Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum.
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.
Kang
Suk Y
SY
Department of Neurology and Brain Research, Yonsei University College of Medicine, Seoul, South Korea.
Lee
Mee H
MH
Lee
Seung K
SK
Sohn
Young H
YH
D000293:Adolescent; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D001590:Benztropine / Q000627:therapeutic use; D003072:Cognition Disorders / Q000209:etiology / Q000503:physiopathology; D003337:Corpus Callosum / Q000473:pathology*; D004569:Electroencephalography; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D008297:Male; D018908:Muscle Weakness / Q000209:etiology / Q000503:physiopathology; D009483:Neuropsychological Tests; D010300:Parkinson Disease / Q000188:drug therapy* / Q000209:etiology*; D012642:Selegiline / Q000627:therapeutic use; D015419:Spastic Paraplegia, Hereditary / Q000150:complications* / Q000473:pathology; D014202:Tremor / Q000209:etiology / Q000503:physiopathology
D000978:Antiparkinson Agents; D001590:Benztropine; D012642:Selegiline; D007980:Levodopa