Iwabuchi K, Nagatomo H, Tanabe T, Oda T, Itoh H, Hanihara T, Yagishita S
Department of Neuropathology, Tokyo Institute of Psychiatry, Japan.
No To Shinkei. 1993 Sep;45(9):841-9.
Recent progress in neurology has revealed that hereditary olivo-ponto-cerebellar atrophy (OPCA) is in fact three different diseases. These are Menzel's disease, in which degeneration in the olivopontocerebellar (OPC) system is quite severe and similar to that of the patient described by Menzel in 1891, spinocerebellar ataxia 1 (SCA 1), in which the gene locus exists in the short arm of chromosome 6, and hereditary OPCA with retinal degeneration. We present a family with Menzel's disease, some of whom showed dementia and various extrapyramidal symptoms including tremor, myoclonus, and choreoathetoid involuntary movement.
This dominant hereditary cerebellar ataxia family had five affected members in four generations. Neuropathological examination of one member (Case 3) revealed Menzel's disease. There was severe degeneration in the OPC system, the substantia nigra, Clarke's column, the posterior column, and the anterior horn of the spinal cord, and slight-to-moderate degeneration in the globus pallidus and subthalamic nucleus. However, the dentate nucleus, spinocerebellar tracts, and oculomotor nucleus including the medial longitudinal fasciculus were spared. The brain weight was 990 g. Case 1 (Case 3's grandmother) developed slowly progressive ataxia at the age of 55. She showed no involuntary movement or dementia. She died at 63 years of age. Case 2 (Case 3's mother) developed ataxia at 42 years of age, followed by tremor of the hands and head, and died at age 57. She did not show dementia. Case 3 (the autopsied case) developed progressive ataxia at 27 years of age, followed by mental deterioration, tremor, myoclonus, and generalized amyotrophy and sensory disturbance during her fifth decade.(ABSTRACT TRUNCATED AT 250 WORDS)
神经学的最新进展表明，遗传性橄榄体脑桥小脑萎缩（OPCA）实际上是三种不同的疾病。它们分别是门泽尔病，其橄榄体脑桥小脑（OPC）系统的退化相当严重，与门泽尔在1891年描述的患者相似；脊髓小脑共济失调1型（SCA 1），其基因位点位于6号染色体短臂；以及伴有视网膜退化的遗传性OPCA。我们报告一个患有门泽尔病的家族，其中一些成员出现痴呆以及各种锥体外系症状，包括震颤、肌阵挛和舞蹈样手足徐动症不自主运动。
这个显性遗传性小脑共济失调家族四代中有五名患病成员。对一名成员（病例3）进行神经病理学检查发现为门泽尔病。OPC系统、黑质、克拉克柱、后柱和脊髓前角有严重退化，苍白球和丘脑底核有轻度至中度退化。然而，齿状核、脊髓小脑束以及包括内侧纵束在内的动眼神经核未受影响。脑重990克。病例1（病例3的祖母）55岁时出现缓慢进展的共济失调。她没有不自主运动或痴呆症状。63岁时去世。病例2（病例3的母亲）42岁时出现共济失调，随后手部和头部震颤，57岁时去世。她没有痴呆症状。病例3（尸检病例）27岁时出现进行性共济失调，随后在五十多岁时出现精神衰退、震颤、肌阵挛、全身肌萎缩和感觉障碍。（摘要截断于250字）
