Clinical and genetic study of a large SPG4 Italian family

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

doi:10.1002/mds.20494

Clinical and genetic study of a large SPG4 Italian family

Antonio Orlacchio, Toshitaka Kawarai, Fabrizio Gaudiello, Antonio Torato, Orazio Schillaci, Alessandro Stefani, Roberto Floris, Peter H. St. George-Hyslop, Sandro Sorbi, Giorgio Bernardi

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1055-1059
Number of pages	5
Journal	Movement Disorders
Volume	20
Issue number	8
DOIs	https://doi.org/10.1002/mds.20494
Publication status	Published - Aug 2005

Keywords

Frame-shift mutation
Gender differences
Hereditary spastic paraplegia
Intrafamilial phenotypic variations
SPG4

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)

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10.1002/mds.20494

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Clinical and genetic study of a large SPG4 Italian family. / Orlacchio, Antonio; Kawarai, Toshitaka; Gaudiello, Fabrizio; Torato, Antonio; Schillaci, Orazio; Stefani, Alessandro; Floris, Roberto; St. George-Hyslop, Peter H.; Sorbi, Sandro; Bernardi, Giorgio.

In: Movement Disorders, Vol. 20, No. 8, 08.2005, p. 1055-1059.

Research output: Contribution to journal › Article › peer-review

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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.",

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AU - Gaudiello, Fabrizio

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AU - Stefani, Alessandro

AU - Floris, Roberto

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Clinical and genetic study of a large SPG4 Italian family

Abstract

Keywords

ASJC Scopus subject areas

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