| Literature DB >> 15465400 |
Suk Y Kang1, Mee H Lee, Seung K Lee, Young H Sohn.
Abstract
Hereditary spastic paraplegia with thin corpus callosum is a rare degenerative disease, which is characterized by a progressive weakness of the lower limbs with a hypoplastic corpus callosum, and is often associated with other symptoms such as mental impairment, amyotrophy, sensory disturbances, dysuria, nystagmus and cataract. We describe two siblings (brother and sister) who showed a thin corpus callosum on MRI, one of whom showed the pure form of progressive spastic paraplegia, while the other showed predominant levodopa-responsive parkinsonism. The present cases are illustrative of a phenotypic heterogeneity in the same family of spastic paraplegia with a thin corpus callosum, despite the identical neuroimaging findings, and also presented another form of autosomal recessive juvenile levodopa-responsive parkinsonism.Entities:
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Year: 2004 PMID: 15465400 DOI: 10.1016/j.parkreldis.2004.05.003
Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN: 1353-8020 Impact factor: 4.891