Case report

Acta Neuropathologica

, Volume 96, Issue 2, pp 207-210

Autosomal dominant diffuse Lewy body disease

  • K. WakabayashiAffiliated withBrain Disease Research Center, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951-8585, Japan Tel.: 81-25-227-0673, Fax: 81-25-227-0817, e-mail: koichi@bri.niigata-u.ac.jp
  • , Shintaro HayashiAffiliated withDepartment of Pathology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951-8585, Japan
  • , Atsushi IshikawaAffiliated withDepartment of Neurology, Nishi-Ojiya National Hospital, Ojiya 947-0041, Japan
  • , Tunemi HayashiAffiliated withDepartment of Neurology, Nishi-Ojiya National Hospital, Ojiya 947-0041, Japan
  • , Kaoru OkuizumiAffiliated withDepartment of Neurology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951-8585, Japan
  • , Hajime TanakaAffiliated withDepartment of Neurology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951-8585, Japan
  • , Shoji TsujiAffiliated withDepartment of Neurology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951-8585, Japan
  • , Hitoshi TakahashiAffiliated withDepartment of Pathology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951-8585, Japan

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Abstract

We describe a Japanese family with parkinsonism and later-onset dementia. The proband developed parkinsonism at the age of 61 years, followed by dementia starting when she was 67. Her uncle, who was also her husband, died at the age of 78 years after 7- and 5-year histories of parkinsonism and dementia, respectively. Pathological examination of these two patients showed marked neuronal loss with Lewy bodies (LBs) in the brain stem pigmented nuclei and numerous cortical LBs and ubiquitin-positive hippocampal CA2/3 neurites were observed. The proband also had many amyloid plaques. Their two sons developed similar parkinsonism at the ages of 39 and 28 years and also suffered later-onset dementia. The apolipoprotein E genotype of the proband, her uncle and one of their sons was ɛ3/4 and that of the other son was ɛ4/4. These findings strongly suggest that this family has autosomal dominant diffuse LB disease.

Key word Diffuse Lewy body disease Apolipoprotein E gene Autosomal dominant Parkinson’s disease Dementia