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Article

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.

BMC medical genetics - 1 Apr 2014

Racis Loretta, Storti Eugenia, Pugliatti Maura, Agnetti Virgilio, Tessa Alessandra, Santorelli Filippo M

Abstract excerpt

BACKGROUND: The hereditary spastic paraplegias (HSPs) are pleiomorphic disorders of motor pathway and a large number of affected genes have been discovered. Yet, mutations in SPG4/SPAST represent the most frequent molecular etiology in autosomal dominant (AD) patients and sporadic cases. We describe a large, AD-HSP Sardinian family where 5 out of several living members harbored a novel deletion affecting also the...

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Source

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Identifiers

PMID: 24690193
DOI: 10.1186/1471-2350-15-39
PMCID: PMC3974227

Genes

SPAST

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