Spinocerebellar ataxia type 7 without retinal degeneration: a case report.

A 60-yr-old man developed progressive gait disturbance and limb ataxia at the age of 52. Family history was absent for neurological disorders. Examinations showed pure cerebellar syndrome. There was no retinal degeneration for 7 yr. A brain MRI done at the age of 56 showed atrophy of the cerebellar...

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Autores principales: Kim, Byeong-Chae, Kim, Myeong-Kyu, Cho, Ki-Hyun, Jeon, Beom S.
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 2002
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054916/
https://www.ncbi.nlm.nih.gov/pubmed/12172062
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author Kim, Byeong-Chae
Kim, Myeong-Kyu
Cho, Ki-Hyun
Jeon, Beom S.
author_facet Kim, Byeong-Chae
Kim, Myeong-Kyu
Cho, Ki-Hyun
Jeon, Beom S.
author_sort Kim, Byeong-Chae
collection PubMed
description A 60-yr-old man developed progressive gait disturbance and limb ataxia at the age of 52. Family history was absent for neurological disorders. Examinations showed pure cerebellar syndrome. There was no retinal degeneration for 7 yr. A brain MRI done at the age of 56 showed atrophy of the cerebellar hemispheres and vermis. Genetic test confirmed the spinocerebellar ataxia type 7 with CAG repeat number of 42.
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spelling pubmed-30549162011-03-15 Spinocerebellar ataxia type 7 without retinal degeneration: a case report. Kim, Byeong-Chae Kim, Myeong-Kyu Cho, Ki-Hyun Jeon, Beom S. J Korean Med Sci Research Article A 60-yr-old man developed progressive gait disturbance and limb ataxia at the age of 52. Family history was absent for neurological disorders. Examinations showed pure cerebellar syndrome. There was no retinal degeneration for 7 yr. A brain MRI done at the age of 56 showed atrophy of the cerebellar hemispheres and vermis. Genetic test confirmed the spinocerebellar ataxia type 7 with CAG repeat number of 42. Korean Academy of Medical Sciences 2002-08 /pmc/articles/PMC3054916/ /pubmed/12172062 Text en
spellingShingle Research Article
Kim, Byeong-Chae
Kim, Myeong-Kyu
Cho, Ki-Hyun
Jeon, Beom S.
Spinocerebellar ataxia type 7 without retinal degeneration: a case report.
title Spinocerebellar ataxia type 7 without retinal degeneration: a case report.
title_full Spinocerebellar ataxia type 7 without retinal degeneration: a case report.
title_fullStr Spinocerebellar ataxia type 7 without retinal degeneration: a case report.
title_full_unstemmed Spinocerebellar ataxia type 7 without retinal degeneration: a case report.
title_short Spinocerebellar ataxia type 7 without retinal degeneration: a case report.
title_sort spinocerebellar ataxia type 7 without retinal degeneration: a case report.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054916/
https://www.ncbi.nlm.nih.gov/pubmed/12172062
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AT chokihyun spinocerebellarataxiatype7withoutretinaldegenerationacasereport
AT jeonbeoms spinocerebellarataxiatype7withoutretinaldegenerationacasereport

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