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Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).

ABSTRACT: 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.

SUBMITTER: Yahikozawa H

PROVIDER: S-EPMC4785587 | biostudies-other | 2015

REPOSITORIES: biostudies-other

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Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).

Yahikozawa Hiroyuki H Yoshida Kunihiro K Sato Shunichi S Hanyu Norinao N Doi Hiroshi H Miyatake Satoko S Matsumoto Naomichi N

Human genome variation 20150326

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. ...[more]

PMID: 27081526

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