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September 2, 2008

Distinct muscle imaging patterns in myofibrillar myopathies

D. Fischer, MD, R. A. Kley, MD, K. Strach, MD, C. Meyer, MD, T. Sommer, MD, K. Eger, MD, A. Rolfs, MD, … Show All … , W. Meyer, A. Pou, MD, J. Pradas, MD, C. M. Heyer, MD, A. Grossmann, MD, A. Huebner, MD, W. Kress, MD, J. Reimann, MD, R. Schröder, MD, B. Eymard, MD, M. Fardeau, MD, B. Udd, MD, L. Goldfarb, MD, M. Vorgerd, MD, and M. Olivé, MDAuthors Info & Affiliations
September 2, 2008 issue
71 (10) 758-765
https://doi.org/10.1212/01.wnl.0000324927.28817.9b
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Abstract

Objective: To compare muscle imaging findings in different subtypes of myofibrillar myopathies (MFM) in order to identify characteristic patterns of muscle alterations that may be helpful to separate these genetic heterogeneous muscular disorders.
Methods: Muscle imaging and clinical findings of 46 patients with MFM were evaluated (19 desminopathy, 12 myotilinopathy, 11 filaminopathy, 1 αB-crystallinopathy, and 3 ZASPopathy). The data were collected retrospectively in 43 patients and prospectively in 3 patients.
Results: In patients with desminopathy, the semitendinosus was at least equally affected as the biceps femoris, and the peroneal muscles were never less involved than the tibialis anterior (sensitivity of these imaging criteria to detect desminopathy in our cohort 100%, specificity 95%). In most of the patients with myotilinopathy, the adductor magnus showed more alterations than the gracilis muscle, and the sartorius was at least equally affected as the semitendinosus (sensitivity 90%, specificity 93%). In filaminopathy, the biceps femoris and semitendinosus were at least equally affected as the sartorius muscle, and the medial gastrocnemius was more affected than the lateral gastrocnemius. The semimembranosus mostly showed more alterations than the adductor magnus (sensitivity 88%, specificity 96%). Early adult onset and cardiac involvement was most often associated with desminopathy. In patients with filaminopathy, muscle weakness typically beginning in the 5th decade of life was mostly pronounced proximally, while late adult onset (>50 years) with distal weakness was more often present in myotilinopathy.
Conclusions: Muscle imaging in combination with clinical data may be helpful for separation of distinct myofibrillar myopathy subtypes and in scheduling of genetic analysis.

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Information & Authors

Information

Published In

Neurology®
Volume 71 • Number 10 • September 2, 2008
Pages: 758-765
PubMed: 18765652

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© 2008.

Publication History

Published online: September 2, 2008
Published in print: September 2, 2008

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Affiliations & Disclosures

D. Fischer, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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R. A. Kley, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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K. Strach, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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C. Meyer, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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T. Sommer, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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K. Eger, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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A. Rolfs, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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W. Meyer
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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A. Pou, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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J. Pradas, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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C. M. Heyer, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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A. Grossmann, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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A. Huebner, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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W. Kress, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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J. Reimann, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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R. Schröder, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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B. Eymard, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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M. Fardeau, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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B. Udd, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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L. Goldfarb, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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M. Vorgerd, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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M. Olivé, MD
From the Department of Neurology (D.F.), University Hospital Basel, Switzerland; Department of Neuropediatrics (D.F.), University Children’s Hospital Basel, Department of Neurology (R.A.K., M.V.), Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Germany; Departments of Radiology (K.S., C.M., T.S.) and Neurology (D.F., J.R.), University Hospital Bonn, Germany; Department of Neurology (K.E.), University Hospital Halle, Germany; Departments of Neurology (A.R., W.M.) and Radiology (A.G.), University Hospital Rostock, Germany; Servei Neurologia (A.P.), Hospital del Mar, Barcelona; Sevei Neurologia (J.P.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Radiology (C.M.H.), University Hospital Bergmannsheil, Bochum, Germany; Children’s Hospital (A.H.), Technical University Dresden, Germany; Institute of Human Genetics (W.K.), Biozentrum, University of Würzburg, Germany; Departments of Neurology (B.U.), Tampere Medical School and University Hospital and Vaasa Central Hospital, and Folkhalsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland; Institute of Neuropathology and Department of Neurology (R.S.), University Hospital Erlangen, Germany; Institut de Myologie (B.E., M.F.), Groupe Hospitalier Pitié-Salpêtrière, Paris, France; The National Institute of Neurological Disorders and Stroke (I.G.), National Institutes of Health, Bethesda, MD; Institut de Neuropatologia (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.O.); and Queen Mary University of London (W.M.), St. Bartholomew’s and the Royal London School of Medicine, UK.
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Notes

Address correspondence and reprint requests to Dr. Dirk Fischer, Department of Neurology, University Hospital Basel, Switzerland [email protected]

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  • 1-301-223-2300 for customers outside the U.S. - 8:30 - 7 pm ET (M-F)
  • [email protected]

We appreciate your patience during this time and apologize for any inconvenience.

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