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

M. L. Mostacciuolo, L. Rampoldi, E. Righetti, G. Vazza, F. Schiavon, C. Angelini

Research output: Contribution to journalArticlepeer-review

Abstract

Hereditary motor and sensory neuropathy type V is a very rare disease in which hereditary spastic paraplegia is associated with peripheral motor and sensory neuropathy. The symptomatic onset of the disorder is usually in the second decade of life or later and the course is progressive over many years. Hereditary motor and sensory neuropathy type V is inherited as an autosomal dominant trait usually showing incomplete penetrance. So far, no molecular data are available in the literature about this disease. In our study we present clinical and molecular data from a large Italian family displaying hereditary motor and sensory neuropathy type V. Taking into account the clinical features in this family, we have performed a linkage analysis for markers strictly associated with all the known loci for autosomal dominant and autosomal recessive forms of hereditary spastic paraplegia and hereditary motor and sensory neuropathy type II, 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. Copyright (C) 2000 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)497-502
Number of pages6
JournalNeuromuscular Disorders
Volume10
Issue number7
DOIs
Publication statusPublished - Oct 2000

Keywords

  • Exclusion mapping
  • Hereditary motor and sensory neuropathy type V
  • Hereditary spastic paraplegia

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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