Spinocerebellar ataxia type 5: Clinical and molecular genetic features of a German kindred

K. Bürk; C. Zühlke; I. R. König; A. Ziegler; E. Schwinger; C. Globas; J. Dichgans; Y. Hellenbroich

doi:10.1212/01.WNL.0000103293.63340.C1

Spinocerebellar ataxia type 5: Clinical and molecular genetic features of a German kindred

K. Bürk, C. Zühlke, I. R. König, A. Ziegler, E. Schwinger, C. Globas, J. Dichgans, Y. Hellenbroich

University of Tubingen

68 Citations (Scopus)

Abstract

The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5 (SCA5) locus (multipoint lod score 5.76). The phenotype is characterized by a purely cerebellar syndrome with a downbeat nystagmus occurring prior to the development of other features. Imaging studies demonstrated cortical cerebellar atrophy. Progression is slow even in patients with a disease onset during the second decade. The age at onset varies from 15 to 50 years.

Original language	English
Journal	Neurology
Volume	62
Issue number	2
Pages (from-to)	327-329
Number of pages	3
ISSN	0028-3878
DOIs	https://doi.org/10.1212/01.WNL.0000103293.63340.C1
Publication status	Published - 27.01.2004

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10.1212/01.WNL.0000103293.63340.C1

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title = "Spinocerebellar ataxia type 5: Clinical and molecular genetic features of a German kindred",

abstract = "The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5 (SCA5) locus (multipoint lod score 5.76). The phenotype is characterized by a purely cerebellar syndrome with a downbeat nystagmus occurring prior to the development of other features. Imaging studies demonstrated cortical cerebellar atrophy. Progression is slow even in patients with a disease onset during the second decade. The age at onset varies from 15 to 50 years.",

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T1 - Spinocerebellar ataxia type 5: Clinical and molecular genetic features of a German kindred

AU - Bürk, K.

AU - Zühlke, C.

AU - König, I. R.

AU - Ziegler, A.

AU - Schwinger, E.

AU - Globas, C.

AU - Dichgans, J.

AU - Hellenbroich, Y.

PY - 2004/1/27

Y1 - 2004/1/27

N2 - The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5 (SCA5) locus (multipoint lod score 5.76). The phenotype is characterized by a purely cerebellar syndrome with a downbeat nystagmus occurring prior to the development of other features. Imaging studies demonstrated cortical cerebellar atrophy. Progression is slow even in patients with a disease onset during the second decade. The age at onset varies from 15 to 50 years.

AB - The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5 (SCA5) locus (multipoint lod score 5.76). The phenotype is characterized by a purely cerebellar syndrome with a downbeat nystagmus occurring prior to the development of other features. Imaging studies demonstrated cortical cerebellar atrophy. Progression is slow even in patients with a disease onset during the second decade. The age at onset varies from 15 to 50 years.

UR - https://www.scopus.com/pages/publications/0842347338

U2 - 10.1212/01.WNL.0000103293.63340.C1

DO - 10.1212/01.WNL.0000103293.63340.C1

M3 - Journal articles

C2 - 14745083

AN - SCOPUS:0842347338

SN - 0028-3878

VL - 62

SP - 327

EP - 329

JO - Neurology

JF - Neurology

IS - 2

ER -

Spinocerebellar ataxia type 5: Clinical and molecular genetic features of a German kindred

Abstract

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