The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment.

Abstract:

:Spinocerebellar ataxia (SCA) 17 is a dominant neurodegenerative disorder characterized by ataxia, cognitive decline, dystonia, and parkinsonism. The disease is caused by unstable cytosine-adenine-guanine (CAG) trinucleotide expansion mutation coding for polyglutamine tracts in the TATA box-binding protein (TBP), a general transcription initiation factor. Herein, we report a SCA17 case with a phenotype not previously reported, which consisted of progressive ataxia, autonomic dysfunction, parkinsonism, supranuclear palsy and cognitive impairment. Cerebrospinal fluid study and 18F-dopa PET scanning demonstrated dopamine deficiency and nigrostrital degeneration. This case expands the current phenotype associated with SCA17. SCA17 should be considered in the differential diagnosis of cases resembling multiple system atrophy, especially those with atypical features.

authors

Lin IS,Wu RM,Lee-Chen GJ,Shan DE,Gwinn-Hardy K

doi

10.1016/j.parkreldis.2006.04.009

subject

Has Abstract

pub_date

2007-05-01 00:00:00

pages

246-9

issue

4

eissn

1353-8020

issn

1873-5126

pii

S1353-8020(06)00090-3

journal_volume

13

pub_type

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