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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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Detalles Bibliográficos
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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