Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations.

Complex phenotype in an Italian family with a novel mutation in SPG3A.

FILLA, ALESSANDRO;CRISCUOLO, CHIARA;QUARANTELLI, MARIO;BILO, LEONILDA;PELUSO, SILVIO;ANTENORA, ANTONELLA;DE MICHELE, GIUSEPPE
2010

Abstract

Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/359547
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