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Clinical and genetic study of a large SPG4 Italian family

✍ Scribed by Antonio Orlacchio; Toshitaka Kawarai; Fabrizio Gaudiello; Antonio Totaro; Orazio Schillaci; Alessandro Stefani; Roberto Floris; Peter H. St. George-Hyslop; Sandro Sorbi; Giorgio Bernardi

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 173 KB
Volume: 20
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.20494

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✦ Synopsis

Abstract

A novel SPG4 906delT frame‐shift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, such as peripheral sensory–motor neuropathy, cognitive impairment, and urological dysfunction. Severe clinical features were found predominantly in the men who were affected, and there was no statistically significant correlation of disability and time since onset of symptoms, suggesting the existence of other genetic/nongenetic modifier(s), including gender. © 2005 Movement Disorder Society

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