ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

J Neurol. 2013 Mar;260(3):869-75. doi: 10.1007/s00415-012-6723-z. Epub 2012 Oct 30.

Abstract

SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Cohort Studies
  • Female
  • GTP-Binding Proteins / genetics*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Membrane Transport Proteins / genetics*
  • Middle Aged
  • Motor Neuron Disease / diagnosis*
  • Motor Neuron Disease / epidemiology
  • Motor Neuron Disease / genetics*
  • Mutation / genetics*
  • Pedigree
  • Retrospective Studies
  • Young Adult

Substances

  • Membrane Proteins
  • Membrane Transport Proteins
  • REEP1 protein, human
  • ATL1 protein, human
  • GTP-Binding Proteins