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.
Orlacchio, A., Kawarai, T., Gaudiello, F., Totaro, A., Schillaci, O., Stefani, A., et al. (2005). Clinical and genetic study of a large SPG4 Italian family. MOVEMENT DISORDERS, 20(8), 1055-1059 [10.1002/mds.20494].
Clinical and genetic study of a large SPG4 Italian family
ORLACCHIO, ANTONIO;SCHILLACI, ORAZIO;STEFANI, ALESSANDRO;FLORIS, ROBERTO;BERNARDI, GIORGIO
2005-08-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
