[A family with Menzel's disease showing dementia and various extrapyramidal symptoms]

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)