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Clinical and genetic study of a large SPG4 Italian family
Author(s) -
Orlacchio Antonio,
Kawarai Toshitaka,
Gaudiello Fabrizio,
Totaro Antonio,
Schillaci Orazio,
Stefani Alessandro,
Floris Roberto,
St. GeorgeHyslop Peter H.,
Sorbi Sandro,
Bernardi Giorgio
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20494
Subject(s) - spasticity , hereditary spastic paraplegia , medicine , peripheral neuropathy , family history , exon , genetic heterogeneity , genetics , phenotype , pediatrics , physical medicine and rehabilitation , biology , gene , diabetes mellitus , endocrinology
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