title: Autosomal recessive hereditary spastic paraparesis with thin corpus callosum; report of two sisters.
abstract: OBJECTIVE
  To describe the clinical, cognitive, neurophysiological and radiological features of autosomal recessive hereditary spastic paraparesis (ARHSP) with thin corpus callosum.
  
  
  METHODS
  Two sisters with spastic paraparesis.
  
  
  RESULTS
  MRI brain scans demonstrated thinning of the corpus callosum. The clinical features were progressive spastic paraparesis beginning in the second decade, dysarthria, minor dystonia and chorea, distal weakness and cognitive impairment with frontal dysfunction. Motor compound action potentials are reduced and EMG demonstrated minor chronic denervation. Magnetic stimulation studies demonstrated increased threshold consistent with pyramidal system axonal loss.
  
  
  CONCLUSIONS
  AHRSP with thinned corpus callosum is a distinct clinical and genetic entity that may occur in non-Japanese individuals.
authors.affiliation: Concord Repatriation General Hospital, Concord NSW, Australia.
authors.forename: Steve
authors.initials: S
authors.lastname: Vucic
authors.forename: Tanya
authors.initials: T
authors.lastname: Lye
authors.forename: Graham
authors.initials: G
authors.lastname: Dunn
authors.forename: Alastair
authors.initials: A
authors.lastname: Corbett
mesh_terms: D000328:Adult; D003337:Corpus Callosum / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D035781:Siblings; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics / Q000473:pathology*