Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)

We report a Japanese family with spastic paraplegia 7 (SPG7) that carries a deleterious homozygous p.R398X mutation in SPG7. The patients showed a predominant cerebellar ataxia phenotype. SPG7 is quite rare in Japan, but it should be included in the differential diagnosis for hereditary spastic-atax...

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Autores principales: Yahikozawa, Hiroyuki, Yoshida, Kunihiro, Sato, Shunichi, Hanyu, Norinao, Doi, Hiroshi, Miyatake, Satoko, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785587/
https://www.ncbi.nlm.nih.gov/pubmed/27081526
http://dx.doi.org/10.1038/hgv.2015.12
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author Yahikozawa, Hiroyuki
Yoshida, Kunihiro
Sato, Shunichi
Hanyu, Norinao
Doi, Hiroshi
Miyatake, Satoko
Matsumoto, Naomichi
author_facet Yahikozawa, Hiroyuki
Yoshida, Kunihiro
Sato, Shunichi
Hanyu, Norinao
Doi, Hiroshi
Miyatake, Satoko
Matsumoto, Naomichi
author_sort Yahikozawa, Hiroyuki
collection PubMed
description We report a Japanese family with spastic paraplegia 7 (SPG7) that carries a deleterious homozygous p.R398X mutation in SPG7. The patients showed a predominant cerebellar ataxia phenotype. SPG7 is quite rare in Japan, but it should be included in the differential diagnosis for hereditary spastic-ataxic syndromes, even if the cerebellar signs are much more pronounced than the pyramidal tract signs.
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spelling pubmed-47855872016-04-14 Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7) Yahikozawa, Hiroyuki Yoshida, Kunihiro Sato, Shunichi Hanyu, Norinao Doi, Hiroshi Miyatake, Satoko Matsumoto, Naomichi Hum Genome Var Data Report We report a Japanese family with spastic paraplegia 7 (SPG7) that carries a deleterious homozygous p.R398X mutation in SPG7. The patients showed a predominant cerebellar ataxia phenotype. SPG7 is quite rare in Japan, but it should be included in the differential diagnosis for hereditary spastic-ataxic syndromes, even if the cerebellar signs are much more pronounced than the pyramidal tract signs. Nature Publishing Group 2015-03-26 /pmc/articles/PMC4785587/ /pubmed/27081526 http://dx.doi.org/10.1038/hgv.2015.12 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Yahikozawa, Hiroyuki
Yoshida, Kunihiro
Sato, Shunichi
Hanyu, Norinao
Doi, Hiroshi
Miyatake, Satoko
Matsumoto, Naomichi
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
title Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
title_full Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
title_fullStr Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
title_full_unstemmed Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
title_short Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
title_sort predominant cerebellar phenotype in spastic paraplegia 7 (spg7)
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785587/
https://www.ncbi.nlm.nih.gov/pubmed/27081526
http://dx.doi.org/10.1038/hgv.2015.12
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