RESEARCH: Recessive HSP with cognitive symptoms

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Autosomal recessive hereditary spastic paraparesis

with thin corpus callosum; report of two sisters.

Vucic S, Lye T, Dunn G, Corbett A.

Concord Repatriation General Hospital, Concord NSW,

Australia.

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.

SOURCE: J Clin Neurosci. 2004 May;11(4):427-30.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_uids=1\

5080965 & dopt=Abstract