Clinical and genetic study of a novel mutation in the REEP1 gene

Synapse. 2009 Mar;63(3):201-5. doi: 10.1002/syn.20602.

Abstract

Objective: To examine the gene mutation associated with clinical phenotype from a Chinese kindred with autosomal dominant hereditary spastic paraplegia (ADHSP).

Method: To perform linkage analysis and mutation detection. For two affected individual of the family, clinical analysis, electrophysiological examination, and MRI of brain and spinal cord were also performed.

Result: A novel splice-site mutation (REEP1 c417+1g>a) was identified. Central motor conduction time to the first metatarsal interosseus and anterior tibial muscles were clearly prolonged. Thoracic cord atrophy was found from T1 to T10.

Conclusion: Our study supports that mutations in REEP1 cause ADHSP and demonstrates genetic heterogeneity in ADHSP. Synapse

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Asian People
  • DNA Mutational Analysis
  • Electric Stimulation
  • Electromyography
  • Evoked Potentials, Motor / physiology
  • Family Health
  • Female
  • Genetic Linkage*
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Membrane Transport Proteins / genetics*
  • Middle Aged
  • Mutation / genetics*
  • Neural Conduction / genetics
  • Neural Conduction / physiology
  • Reaction Time / genetics
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology*
  • Spastic Paraplegia, Hereditary / physiopathology
  • Spinal Cord / pathology

Substances

  • Membrane Transport Proteins
  • REEP1 protein, human