FAMILIAL FATAL PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION
FAMILIAL FATAL PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION
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DOI：
10.1002/ana.410060611
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发表时间：
1979-01-01
影响因子：
11.2
通讯作者：
PERRY, TL
中科院分区：
文献类型：
--
作者：
PURDY, A;HAHN, A;PERRY, TL
报告一种新发现的遗传性神经系统疾病的临床、病理和神经化学特征。嗜睡和精神抑郁是早期症状，随后出现轻度帕金森综合征和进行性体重减轻。自动呼吸控制的失败发展，并可能导致猝死。病理学检查可见黑质变性、基底节细胞丢失和胶质增生，髓质局灶性胶质增生。死后大脑样本中的酪氨酸羟化酶、多巴胺、高香草酸和L-多巴脱羧酶水平较低，证明了黑质纹状体多巴胺能系统的退化。空腹血浆和CSF中的牛磺酸浓度有所降低;脑内牛磺酸含量在正常范围内。
The clinical, pathological, and neurochemical characteristics of a newly recognized inherited neurological disorder are reported. Lethargy and mental depression are early symptoms, followed by mild parkinsonism and progressive weight loss. Failure of automatic respiratory control develops and may result in sudden death. Advanced degeneration of the substantia nigra, cell loss and gliosis of the basal ganglia, and focal gliosis in the medulla are seen on pathological study. Degeneration of the nigrostriatal dopaminergic system is evidenced by low levels of tyrosine hydroxylase, dopamine, homovanillic acid, and L‐dopa decarboxylase in postmortem brain samples. Taurine concentrations in fasting plasma and CSF are somewhat depressed; brain contents of taurine are within normal limits.