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

I. Sheng Lin; Ruey Meei Wu; Guey Jen Lee-Chen; Din E. Shan; Katrina Gwinn-Hardy

doi:10.1016/j.parkreldis.2006.04.009

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

I. Sheng Lin, Ruey Meei Wu^*, Guey Jen Lee-Chen, Din E. Shan, Katrina Gwinn-Hardy

^*Corresponding author for this work

Department of Life Science

Research output: Contribution to journal › Article › peer-review

62 Citations (Scopus)

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.

Original language	English
Pages (from-to)	246-249
Number of pages	4
Journal	Parkinsonism and Related Disorders
Volume	13
Issue number	4
DOIs	https://doi.org/10.1016/j.parkreldis.2006.04.009
Publication status	Published - 2007 May

Keywords

MSA
PSP
SCA17
TATA box-binding protein (TBP)
Taiwanese

ASJC Scopus subject areas

Neurology
Geriatrics and Gerontology
Clinical Neurology

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10.1016/j.parkreldis.2006.04.009

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title = "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.",

keywords = "MSA, PSP, SCA17, TATA box-binding protein (TBP), Taiwanese",

author = "Lin, {I. Sheng} and Wu, {Ruey Meei} and Lee-Chen, {Guey Jen} and Shan, {Din E.} and Katrina Gwinn-Hardy",

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journal = "Parkinsonism and Related Disorders",

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AU - Wu, Ruey Meei

AU - Lee-Chen, Guey Jen

AU - Shan, Din E.

AU - Gwinn-Hardy, Katrina

PY - 2007/5

Y1 - 2007/5

N2 - 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.

AB - 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.

KW - MSA

KW - PSP

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KW - TATA box-binding protein (TBP)

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

Abstract

Keywords

ASJC Scopus subject areas

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