Delving further into SPG3A HSP

SPG3A mutations leading to different symptoms in the same family

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 first family member to see us, 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.

SOURCE: J Neurol. 2009 Sep 19.

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

de Leva MF, Filla A, Criscuolo C, Tessa A, Pappatà S, Quarantelli M, Bilo L, Peluso S, Antenora A, Longo D, Santorelli FM, De Michele G.

Department of Neurological Sciences, Federico II University, Via S. Pansini 5, 80131, Naples, Italy, [email protected].