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Abstract

Objective:

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is caused by autosomal-dominantly inherited mutations in the colony stimulating factor 1 receptor (CSF1R) gene, and is clinically characterized by a progressive cognitive and motor decline leading to death within several years.

Methods:

In a continuous series of 25 patients with adult-onset leukoencephalopathy of unknown cause, we genetically confirmed HDLS in 6 families. Affected and nonaffected individuals were examined clinically and by brain MRI studies.

Results:

HDLS presented as prominent dementia and apraxia, often with extrapyramidal and pyramidal signs, rarely with ataxia. White matter MRI changes were detectable early in the disease course. Family history was negative in 4 of 6 index patients. In 2 of 6 index patients, we could confirm the occurrence of de novo mutations in the CSF1R gene. One family showed possible incomplete penetrance: the 69-year-old father of the index patient carried a CSF1R mutation but was clinically unaffected. In one family, the parents were apparently unaffected and not available for genetic testing.

Conclusions:

Typical clinical phenotype and early brain MRI alterations can help to guide the diagnosis of HDLS. Because we confirmed de novo mutations in one-third of patients with CSF1R mutations, this diagnosis should be considered even in the absence of a family history. Furthermore, we present evidence for reduced penetrance of a CSF1R mutation. These results have substantial impact for genetic counseling of asymptomatic individuals at risk and should foster research into disease-modifying factors.

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Supplementary Material

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Information & Authors

Information

Published In

Neurology®
Volume 81Number 23December 3, 2013
Pages: 2039-2044
PubMed: 24198292

Publication History

Received: May 27, 2013
Accepted: September 5, 2013
Published online: November 6, 2013
Published in print: December 3, 2013

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Disclosure

K. Karle, S. Biskup, R. Schüle, and K. Schweitzer report no disclosures. R. Krüger serves as Editor of European Journal of Clinical Investigation and Journal of Neural Transmission and Associate Editor of BMC Neurology; has received research grants of the German Research Council (DFG; KR2119/8-1), the Michael J. Fox Foundation, the Fritz Thyssen Foundation (10.11.2.153), and the Federal Ministry for Education and Research (BMBF, NGFNplus; 01GS08134); and speakers honoraria and/or travel grants from UCB Pharma, Cephalon, Abbott Pharmaceuticals, Takeda Pharmaceuticals, St. Jude Medical, and Medtronic. P. Bauer has received honoraria from Actelion Pharmaceuticals Ltd. B. Bender and T. Nägele report no disclosures. L. Schöls received research grants of the Deutsche Forschungsgemeinschaft (SCHO754/4-1 and SCHO754/5-1), grants of the German Research Council (BMBF) to Leukonet (01GM0644) and mitoNET (01GM0864), an E-RARE grant to EUROSCAR (01GM1206), and an FP7 grant to NeurOmics (305121). He further received funding from the HSP-Selbsthilfegruppe Deutschland eV. Go to Neurology.org for full disclosures.

Study Funding

Supported by a grant (01GM0644) of the German Ministry of Education and Research (BMBF) to the German Leukodystrophy Network (Leukonet).

Authors

Affiliations & Disclosures

Kathrin N. Karle, MD
From the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Department of Neurology (K.N.K., S.B., R.S., K.J.S., R.K., L.S.), Institute of Medical Genetics and Applied Genomics (P.B.), and Department of Diagnostic and Interventional Neuroradiology (B.B., T.N.), Eberhard Karls-University Tübingen; German Research Center for Neurodegenerative Diseases (K.N.K., S.B., R.S., R.K., L.S.), Tübingen; and CeGaT GmbH (S.B.), Center for Genomics and Transcriptomics, Tübingen, Germany.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Saskia Biskup, PhD
From the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Department of Neurology (K.N.K., S.B., R.S., K.J.S., R.K., L.S.), Institute of Medical Genetics and Applied Genomics (P.B.), and Department of Diagnostic and Interventional Neuroradiology (B.B., T.N.), Eberhard Karls-University Tübingen; German Research Center for Neurodegenerative Diseases (K.N.K., S.B., R.S., R.K., L.S.), Tübingen; and CeGaT GmbH (S.B.), Center for Genomics and Transcriptomics, Tübingen, Germany.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Rebecca Schüle, MD
From the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Department of Neurology (K.N.K., S.B., R.S., K.J.S., R.K., L.S.), Institute of Medical Genetics and Applied Genomics (P.B.), and Department of Diagnostic and Interventional Neuroradiology (B.B., T.N.), Eberhard Karls-University Tübingen; German Research Center for Neurodegenerative Diseases (K.N.K., S.B., R.S., R.K., L.S.), Tübingen; and CeGaT GmbH (S.B.), Center for Genomics and Transcriptomics, Tübingen, Germany.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
European Union, PIOF-GA-2012-326681
Research Support, Academic Entities:
1.
University of Tuebingen, Interdisciplinary Center for Clinical Research IZKF, grant 1970-0-0
Research Support, Foundations and Societies:
1.
HSP Selbsthilfegruppe e.V.
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Katherine J. Schweitzer, MD
From the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Department of Neurology (K.N.K., S.B., R.S., K.J.S., R.K., L.S.), Institute of Medical Genetics and Applied Genomics (P.B.), and Department of Diagnostic and Interventional Neuroradiology (B.B., T.N.), Eberhard Karls-University Tübingen; German Research Center for Neurodegenerative Diseases (K.N.K., S.B., R.S., R.K., L.S.), Tübingen; and CeGaT GmbH (S.B.), Center for Genomics and Transcriptomics, Tübingen, Germany.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Rejko Krüger, MD
From the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Department of Neurology (K.N.K., S.B., R.S., K.J.S., R.K., L.S.), Institute of Medical Genetics and Applied Genomics (P.B.), and Department of Diagnostic and Interventional Neuroradiology (B.B., T.N.), Eberhard Karls-University Tübingen; German Research Center for Neurodegenerative Diseases (K.N.K., S.B., R.S., R.K., L.S.), Tübingen; and CeGaT GmbH (S.B.), Center for Genomics and Transcriptomics, Tübingen, Germany.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
speaker�s honoraria and/or travel grants from UCB Pharma, Cephalon, Abbott Pharma, Takeda Pharma, TEVA Pharma and Medtronic
Editorial Boards:
1.
European Journal of Clinical Investigations, associate editor, since 2009 Journal of Neural Transmission, associate editor, since 2009 BMC Neurology, associate editor, since 2009
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
German Research Council [DFG; KR2119/3-2, KR2119/8-1], the Federal Ministry for Education and Research [BMBF, NGFNplus; 01GS08134], The Fritz Thyssen Foundation, The Michael J Fox Foundation
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Peter Bauer, MD
From the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Department of Neurology (K.N.K., S.B., R.S., K.J.S., R.K., L.S.), Institute of Medical Genetics and Applied Genomics (P.B.), and Department of Diagnostic and Interventional Neuroradiology (B.B., T.N.), Eberhard Karls-University Tübingen; German Research Center for Neurodegenerative Diseases (K.N.K., S.B., R.S., R.K., L.S.), Tübingen; and CeGaT GmbH (S.B.), Center for Genomics and Transcriptomics, Tübingen, Germany.
Disclosure
Scientific Advisory Boards:
1.
(1) Scientific advisory board for ZOOM study, Actelion Pharmaceuticals, Allschwil, CH
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
(1) Speaker honoraria from Actelion Pharmaceuticals, Allschwil, CH
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
(1) Consultant for Actelion Pharmaceuticals, Allschwil, CH (2) Consultant for CENTOGENE GmbH, Rostock, GER
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
(1) German Research Council (BMBF) to GeNeMove (01GM0603), EUROSPA (01GM0807) and RISCA (09GM0820) (2) EU for EUROSCA (LSHM-CT-2004-503304), MarkMD (FP7-People PIAP-2008-230596) and TECHGENE (FP7-Health 2007-B 223143).
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
(1) Improved DNase treatment protocol, Roche, Mannheim, GER
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Benjamin Bender, MD
From the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Department of Neurology (K.N.K., S.B., R.S., K.J.S., R.K., L.S.), Institute of Medical Genetics and Applied Genomics (P.B.), and Department of Diagnostic and Interventional Neuroradiology (B.B., T.N.), Eberhard Karls-University Tübingen; German Research Center for Neurodegenerative Diseases (K.N.K., S.B., R.S., R.K., L.S.), Tübingen; and CeGaT GmbH (S.B.), Center for Genomics and Transcriptomics, Tübingen, Germany.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
Bayer Vital GmbH, travel support
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
Deutsche Forschungsgemeinschaft, BE4609/1-1, research grant, 2010-2011.
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Thomas Nägele, MD
From the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Department of Neurology (K.N.K., S.B., R.S., K.J.S., R.K., L.S.), Institute of Medical Genetics and Applied Genomics (P.B.), and Department of Diagnostic and Interventional Neuroradiology (B.B., T.N.), Eberhard Karls-University Tübingen; German Research Center for Neurodegenerative Diseases (K.N.K., S.B., R.S., R.K., L.S.), Tübingen; and CeGaT GmbH (S.B.), Center for Genomics and Transcriptomics, Tübingen, Germany.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Ludger Schöls, MD
From the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Department of Neurology (K.N.K., S.B., R.S., K.J.S., R.K., L.S.), Institute of Medical Genetics and Applied Genomics (P.B.), and Department of Diagnostic and Interventional Neuroradiology (B.B., T.N.), Eberhard Karls-University Tübingen; German Research Center for Neurodegenerative Diseases (K.N.K., S.B., R.S., R.K., L.S.), Tübingen; and CeGaT GmbH (S.B.), Center for Genomics and Transcriptomics, Tübingen, Germany.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
I served as an editorial board member for Movement Disorders 2006-2008
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
As participant of the MICONOS trial I received fees from Santhera Pharmaceuticals
Research Support, Government Entities:
1.
I received the following grants: PI: Genetic disorders in Arab Societies (grant SCHO754/5-1), DFG: 2011-2013 PI: Leukodystrophies in adulthood (Leukonet, grant 01GM0644), BMBF: 2004-2011 PI: mitoMORPH (mitoNET, grant 01GM0864), BMBF: 2008-2014 PI: EUROSPA (01GM0807) EU/BMBF: 2008-2011 Co-PI: RISCA (01GM0820) EU/BMBF: 2008-2011 PI: EUROSCAR (01GM1207) EU/BMBF: 2012-2015 PI: NEUROMICS (F5-2012-305121) EU: 2012-2017
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
I received additional funding from the HSP-Selbsthilfegruppe Deutschland eV.
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE

Notes

Correspondence to Dr. Schöls: [email protected]
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

Author Contributions

Design and conceptualization of the study: Schöls, Karle. Organization and execution of the study: Karle, Biskup, Schüle, Schweitzer, Krüger, Schöls. Analysis and interpretation of the data: Karle, Biskup, Schüle, Krüger, Bauer, Bender, Nägele, Schöls. Drafting of the manuscript: Karle, Schöls. Critical revision of the manuscript for intellectual content: Karle, Biskup, Schüle, Schweitzer, Krüger, Bauer, Bender, Nägele, Schöls. Study supervision and guarantor: Schöls.

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