title: Clinical and genetic study of a novel mutation in the REEP1 gene.
abstract: OBJECTIVE
  To examine the gene mutation associated with clinical phenotype from a Chinese kindred with autosomal dominant hereditary spastic paraplegia (ADHSP).
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  Our study supports that mutations in REEP1 cause ADHSP and demonstrates genetic heterogeneity in ADHSP. Synapse
authors.affiliation: Postgraduate School, Peking Union Medical College, Dong Cheng, Beijing.
authors.forename: Shi Guo
authors.initials: SG
authors.lastname: Liu
authors.forename: Feng Yuan
authors.initials: FY
authors.lastname: Che
authors.forename: Xue Yuan
authors.initials: XY
authors.lastname: Heng
authors.forename: Fei Feng
authors.initials: FF
authors.lastname: Li
authors.forename: Shang Zhi
authors.initials: SZ
authors.lastname: Huang
authors.forename: De Guo
authors.initials: DG
authors.lastname: Lu
authors.forename: Su Jun
authors.initials: SJ
authors.lastname: Hou
authors.forename: Shi En
authors.initials: SE
authors.lastname: Liu
authors.forename: Qiang
authors.initials: Q
authors.lastname: Wang
authors.forename: Hai Ping
authors.initials: HP
authors.lastname: Wang
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People; D004252:DNA Mutational Analysis; D004558:Electric Stimulation; D004576:Electromyography; D019054:Evoked Potentials, Motor / Q000502:physiology; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D011930:Reaction Time / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D013116:Spinal Cord / Q000473:pathology
chemical_list: D026901:Membrane Transport Proteins; C495318:REEP1 protein, human