Autosomal recessive hereditary spastic paraparesis with thin corpus callosum; report of two sisters.
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.
Vucic
Steve
S
Concord Repatriation General Hospital, Concord NSW, Australia.
Lye
Tanya
T
Dunn
Graham
G
Corbett
Alastair
A
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*