Focal dystonia as a presenting sign of spinocerebellar ataxia 17

Johann M. Hagenah; Christine Zühlke; Yorck Hellenbroich; Wolfgang Heide; Christine Klein

doi:10.1002/mds.10600

Focal dystonia as a presenting sign of spinocerebellar ataxia 17

Johann M. Hagenah^*, Christine Zühlke, Yorck Hellenbroich, Wolfgang Heide, Christine Klein

^*Corresponding author for this work

71 Citations (Scopus)

Abstract

We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.

Original language	English
Journal	Movement Disorders
Volume	19
Issue number	2
Pages (from-to)	217-220
Number of pages	4
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.10600
Publication status	Published - 19.03.2004

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10.1002/mds.10600

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title = "Focal dystonia as a presenting sign of spinocerebellar ataxia 17",

abstract = "We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.",

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T1 - Focal dystonia as a presenting sign of spinocerebellar ataxia 17

AU - Hagenah, Johann M.

AU - Zühlke, Christine

AU - Hellenbroich, Yorck

AU - Heide, Wolfgang

AU - Klein, Christine

PY - 2004/3/19

Y1 - 2004/3/19

N2 - We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.

AB - We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia.

UR - https://www.scopus.com/pages/publications/1542360717

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SP - 217

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JO - Movement Disorders

JF - Movement Disorders

IS - 2

ER -

Focal dystonia as a presenting sign of spinocerebellar ataxia 17

Abstract

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