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Article

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.

Movement disorders : official journal of the Movement Disorder Society - 15 Mar 2010

Warnecke Tobias, Duning Thomas, Schirmacher Anja, Mohammadi Siawoosh, Schwindt Wolfram, Lohmann Hubertus, Dziewas Rainer, Deppe Michael, Ringelstein E Bernd, Young Peter

Abstract excerpt

Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. The purpose of this study was to assess the genotype and phenotype in a family with a complicated form of autosomal recessive hereditary spastic paraplegia (ARHSP). Neurological and neuropsychological evaluation, neurophysiologic studies, fiberoptic endoscopic evaluation of swallowing (FEES),...

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Source

Identifiers

PMID: 20108356
DOI: 10.1002/mds.22949

Genes

SPG7

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A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.PMID 20108356Read ↗

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Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia.Semantic proximity Read ↗

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