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