TY - JOUR
T1 - Autosomal recessive hereditary spastic paraparesis with thin corpus callosum; Report of two sisters
AU - Vucic, Steve
AU - Lye, Tanya
AU - Dunn, Graham
AU - Corbett, Alastair
PY - 2004/5
Y1 - 2004/5
N2 - 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.
AB - 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.
KW - Cognitive impairment
KW - Hereditary spastic paraparesis
KW - Thin corpus callosum
UR - http://www.scopus.com/inward/record.url?scp=2342635019&partnerID=8YFLogxK
U2 - 10.1016/S0967-5868(03)00157-7
DO - 10.1016/S0967-5868(03)00157-7
M3 - Article
C2 - 15080965
AN - SCOPUS:2342635019
VL - 11
SP - 427
EP - 430
JO - Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
JF - Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
SN - 0967-5868
IS - 4
ER -