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Article

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

Journal of the neurological sciences - 15 Jul 2011

Proukakis Christos, Moore David, Labrum Robyn, Wood Nicholas W, Houlden Henry

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) is characterised in its pure form by slowly progressive spastic paraparesis. Around 40% of autosomal dominant (AD) cases are caused by mutations in SPAST, encoding spastin. PATIENTS AND METHODS: The clinical and investigation details of all patients with a SPAST mutation identified through our centre were reviewed. All published reports of SPAST mutations where the...

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Spastic Paraplegia, Hereditary

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PMID: 21546041
DOI: 10.1016/j.jns.2011.03.043

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SPAST

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Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.PMID 21546041Read ↗

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