Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity

Hereditary motor and sensory neuropathy type V is a very rare disease in wh ich hereditary spastic paraplegia is associated with peripheral motor and s ensory neuropathy. The symptomatic onset of the disorder is usually in the second decade of life or later and the course is progressive over many year s. Hereditary motor and sensory neuropathy type V is inherited as an autoso mal dominant trait usually showing incomplete penetrance. So far, no molecu lar data are available in the literature about this disease. In our study w e present clinical and molecular data from a targe Italian family displayin g hereditary motor and sensory neuropathy type V. Taking into account the c linical features in this family, we have performed a linkage analysis for m arkers strictly associated with all the known loci for autosomal dominant a nd autosomal recessive forms of hereditary spastic paraplegia and hereditar y motor and sensory neuropathy type Il, and have found no linkage to these loci. Our study suggests that hereditary motor and sensory neuropathy type V is not only a distinct clinical entity but also a distinct genetic entity . (C) 2000 Elsevier Science B.V. All rights reserved.