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Abstract

Article abstract The authors found a strong geographic cluster of spinocerebellar ataxia type 6 (SCA6) families in the Northrhine–Westfalia area, suggesting a founder effect in the German SCA6 population. Genotyping with DNA markers linked to the CACNL1A4 gene on chromosome 19p13 revealed a common haplotype and shared allelic characteristics in the majority of German families. The observed founder effect may be related to the relative meiotic stability of CAG repeats in this type of autosomal dominant cerebellar ataxia.

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References

1.
Zuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in a α1A-voltage-dependent calcium channel. Nat Genet 1997;15:62–69.
2.
Ikeuchi T, Takano H, Koide R, et al. Spinocerebellar ataxia type 6 : CAG repeat expansion in α1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 1997;42:879–884.
3.
Geschwind DH, Perlman S, Figueroa BS, Karrim BS, Baloh RW, Pulst SM. Spinocerebellar ataxia type 6. Frequency of the mutation and genotype–phenotype correlations. Neurology 1997;49:1247–1251.
4.
Stevanin G, Dürr A, David MS, et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 1997;49:1243–1246.
5.
Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O. Spinocerebellar ataxia type 6 : genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 1998;64:67–73.
6.
Matsuyama Z, Kawakami H, Maruyama H, et al. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet 1997;6:1283–1287.
7.
Jodice C, Mantuano E, Venziano L, et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997;6:1973–1978.
8.
Matsumura R, Futamura N, Fujimoto Y, et al. Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997;49:1238–1243.
9.
Lorenzetti D, Bohlega S, Zoghbi HY. The expansion of the CAG repeat in the ataxin-2 gene is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology 1997;49:1009–1012.
10.
Schols L, Amoiridis G, Buttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia : phenotypic differences in genetically defined subtypes. Ann Neurol 1997;42:924–932.

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Published In

Neurology®
Volume 52Number 4March 1, 1999
Pages: 849
PubMed: 10078738

Publication History

Received: June 5, 1998
Accepted: October 31, 1998
Published online: March 1, 1999
Published in print: March 1, 1999

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Authors

Affiliations & Disclosures

M. Dichgans, MD
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
L. Schöls, MD
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
J. Herzog
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
G. Stevanin, PhD
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
H. Weirich-Schwaiger, MD
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
G. Rouleau, MD, PhD
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
K. Bürk, MD
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
T. Klockgether, MD
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
C. Zühlke, MD
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
F. Laccone, MD
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
O. Riess, MD
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.
T. Gasser, MD
From the Department of Neurology (Drs. Dichgans and Gasserand J. Herzog), Klinikum Groβhadern, Ludwig-Maximilians University, Munich, Germany; the Department of Neurology (Dr. Schöls), Ruhr-University, St. Josef Hospital, Bochum, Germany; INSERM U289 and Fédération de Neurologie (Dr. Stevanin), Hôpital de la Salpêtrière, Paris, France; the Department of Human Genetics (Dr. Weirich-Schwaiger), University of Innsbruck, Austria; the Center for Research in Neuroscience (Dr. Rouleau), McGill University, The Montreal General Hospital Research Institute, Canada; the Department of Neurology (Dr. Bürk), Eberhard-Karls-University, Tübingen, Germany; the Department of Neurology (Dr. Klockgether), Friedrich-Wilhelms-University, Bonn, Germany; the Department of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of Human Genetics (Dr. Laccone), Göttingen, Germany; and Molecular Human Genetics (Dr. Riess), Ruhr-University, Bochum, Germany. M.D. and L.S. contributed equally to this work.

Notes

Address correspondence and reprint requests to Dr. M. Dichgans, Department of Neurology, Klinikum Groβhadern, Ludwig-Maximilians-Universität, Munich, Marchioninistr. 15, D-81377 Munich, Germany.

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