[Familial parkinsonism: different clinical phenotype between a mother and her daughter].
We reported a familial case of parkinsonism in which clinical features are different between a mother and her daughter. The mother developed rigidity and bradykinesia at age 76. Her symptoms were slowly progressive, and were responsive to levodopa. Thus, she was diagnosed as having Parkinson's disease. In contrast, her daughter developed postural instability as well as rigidity and bradykinesia at age 53 in rapid progression. In addition, she also developed pyramidal signs and autonomic failures, including orthostatic hypotension and urinary incontinence. The disease phenotype of the daughter resembled that of striatonigral degeneration (SND). However, PET studies showed normal binding of 11C-N-methyl-spiperone (NMSP) in the striatum, suggesting that the daughter was also affected with Parkinson's disease.
Kanemaru
K
K
Department of Neurology, Tokyo Metropolitan Geriatric Hospital.
Ishii
K
K
Mitani
K
K
Nagura
H
H
Yamanouchi
H
H
D000368:Aged; D005260:Female; D006801:Humans; D007024:Hypotension, Orthostatic / Q000209:etiology; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology; D009127:Muscle Rigidity / Q000209:etiology; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D010641:Phenotype; D014549:Urinary Incontinence / Q000209:etiology