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

Research output: Contribution to journalArticle

46 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 languageEnglish
Pages (from-to)246-249
Number of pages4
JournalParkinsonism and Related Disorders
Volume13
Issue number4
DOIs
Publication statusPublished - 2007 May 1

Fingerprint

Parkinsonian Disorders
Ataxia
General Transcription Factors
TATA-Box Binding Protein
Multiple System Atrophy
Phenotype
Peptide Initiation Factors
Dihydroxyphenylalanine
Dystonia
Cytosine
Guanine
Adenine
Paralysis
Neurodegenerative Diseases
Cerebrospinal Fluid
Dopamine
Differential Diagnosis
Mutation
Primary Spontaneous Pneumothorax
Cognitive Dysfunction

Keywords

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

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

Cite this

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment. / Lin, I. Sheng; Wu, Ruey Meei; Lee-Chen, Guey Jen; Shan, Din E.; Gwinn-Hardy, Katrina.

In: Parkinsonism and Related Disorders, Vol. 13, No. 4, 01.05.2007, p. 246-249.

Research output: Contribution to journalArticle

Lin, I. Sheng ; Wu, Ruey Meei ; Lee-Chen, Guey Jen ; Shan, Din E. ; Gwinn-Hardy, Katrina. / The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment. In: Parkinsonism and Related Disorders. 2007 ; Vol. 13, No. 4. pp. 246-249.
@article{06e7cf6e2430404799d4018a28019f09,
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",
year = "2007",
month = "5",
day = "1",
doi = "10.1016/j.parkreldis.2006.04.009",
language = "English",
volume = "13",
pages = "246--249",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
number = "4",

}

TY - JOUR

T1 - The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment

AU - Lin, I. Sheng

AU - Wu, Ruey Meei

AU - Lee-Chen, Guey Jen

AU - Shan, Din E.

AU - Gwinn-Hardy, Katrina

PY - 2007/5/1

Y1 - 2007/5/1

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

KW - SCA17

KW - TATA box-binding protein (TBP)

KW - Taiwanese

UR - http://www.scopus.com/inward/record.url?scp=34247117930&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34247117930&partnerID=8YFLogxK

U2 - 10.1016/j.parkreldis.2006.04.009

DO - 10.1016/j.parkreldis.2006.04.009

M3 - Article

C2 - 16793320

AN - SCOPUS:34247117930

VL - 13

SP - 246

EP - 249

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

SN - 1353-8020

IS - 4

ER -