[Hereditary dentatorubropallidoluysian atrophy--clinical variants in a family and degeneration of cerebral white matter in a proband].
[Hereditary dentatorubropallidoluysian atrophy--clinical variants in a family and degeneration of cerebral white matter in a proband].
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[遗传性齿状核红苍白球体萎缩——家族中的临床变异和先证者脑白质变性]。
DOI：
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发表时间：
1992
期刊：
影响因子：
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通讯作者：
T. Yuasa
中科院分区：
文献类型：
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作者：
K. Miyashita;T. Inuzuka;A. Ishikawa;H. Kondo;A. Kawakami;S. Takeda;F. Ikuta;T. Yuasa
我们描述了一个遗传性齿状回苍白质遗传性萎缩(DRPLA)家系。4例患者连续3代临床表现多样。发病于老年的女性先证者出现舞蹈性不自主运动、痴呆、反射亢进，并在进展期出现轻度共济失调。然而，她从未表现出癫痫和肌阵挛。两个儿子表现为痴呆症、编舞动作和共济失调。孙子出现典型的进行性肌阵挛癫痫的体征和症状。先证者的头颅CT表现为严重的小脑和脑干萎缩，中度的大脑皮质萎缩和大脑深层白质的弥漫性低密度病变。她的神经病理检查显示大脑和小脑白质萎缩和胶质化，并伴有齿状核和苍白球系统退行性变。本研究表明，遗传性DRLA可包括多种临床变异，即使在同一个家族中，也可包括大脑和小脑白质的变性，除齿状核和苍白球系统外，还可包括脑白质变性。
We describe a family with hereditary dentatorubropallidoluysian atrophy (DRPLA). 4 patients through 3 successive generations showed a wide clinical variety. The female proband with onset in the elderly developed choreiform involuntary movement, dementia, hyperreflexia and, at the progressive stage, mild ataxia. However she had never displayed epilepsy and myoclonus. The 2 sons showed dementia, choreoathetoid movement and ataxia. The grandson developed typical signs and symptoms of progressive myoclonus epilepsy. The brain CT in the proband showed severe cerebellar and brain stem atrophy, moderate cerebral cortical atrophy and diffuse low density lesions in the deep cerebral white matter. Her neuropathological examination revealed the atrophy and gliosis of cerebral and cerebellar white matter concomitant with both dentatorubral and pallidoluysian system degeneration. The present study indicates that hereditary DRPLA can include multiple clinical variants even in the same family and the degeneration of cerebral and cerebellar white matter besides dentatorubral and pallidoluysian system.