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-...

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Bibliographic Details
Published in:Parkinsonism & related disorders 2007-05, Vol.13 (4), p.246-249
Main Authors: Lin, I-Sheng, Wu, Ruey-Meei, Lee-Chen, Guey-Jen, Shan, Din-E, Gwinn-Hardy, Katrina
Format: Article
Language:English
Subjects:
Brain - diagnostic imaging
Brain - pathology
Cognition Disorders - etiology
Cognition Disorders - pathology
Humans
Magnetic Resonance Imaging - methods
Male
Middle Aged
MSA
Multiple System Atrophy - etiology
Multiple System Atrophy - pathology
Neurology
Phenotype
Positron-Emission Tomography - methods
PSP
SCA17
Spinocerebellar Ataxias - complications
Taiwanese
TATA Box
TATA box-binding protein (TBP)
TATA-Box Binding Protein
Trinucleotide Repeat Expansion
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Summary: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.
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2006.04.009