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 / de Leva, M. F.; Filla, Alessandro; Criscuolo, Chiara; Tessa, A.; Pappatà, S.; Quarantelli, Mario; Bilo, Leonilda; Peluso, Silvio; Antenora, Antonella; Longo, D.; Santorelli, F. M.; DE MICHELE, Giuseppe. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - STAMPA. - 257:3(2010), pp. 328-331.
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.| File | Dimensione | Formato | |
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