Autosomal recessive hereditary spastic paraparesis with thin corpus callosum; Report of two sisters

Steve Vucic, Tanya Lye, Graham Dunn, Alastair Corbett*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

Objectives: To describe the clinical, cognitive, neurophysiological and radiological features of autosomal recessive hereditary spastic paraparesis (ARHSP) with thin corpus callosum. Patients and 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.

Original languageEnglish
Pages (from-to)427-430
Number of pages4
JournalJournal of Clinical Neuroscience
Volume11
Issue number4
DOIs
Publication statusPublished - May 2004
Externally publishedYes

Keywords

  • Cognitive impairment
  • Hereditary spastic paraparesis
  • Thin corpus callosum

Fingerprint

Dive into the research topics of 'Autosomal recessive hereditary spastic paraparesis with thin corpus callosum; Report of two sisters'. Together they form a unique fingerprint.

Cite this