Hereditary Spastic Paraplegia With Thin Corpus Callosum
Open Access
- 1 May 2006
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 63 (5) , 756-760
- https://doi.org/10.1001/archneur.63.5.756
Abstract
Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) (Online Mendelian Inheritance in Man [OMIM] #604360) is an autosomal recessive form of complicated HSP characterized clinically by slowly progressive spastic paraparesis and mental deterioration beginning in the second decade of life.1 Additional manifestations include urinary incontinence, sensory deficit in the legs, late distal amyotrophy, occasional seizures, extrapyramidal signs, and cerebellar ataxia. Although the appearance of TCC on cerebral magnetic resonance imaging is typical of HSP-TCC,1 it also occurs in some of the other HSPs, including those related to SPG7,2SPG21,3 and SPG4,4 and in peripheral neuropathy with agenesis of the corpus callosum,5 making genetic analysis essential for diagnosis.Keywords
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