Premium
Familial occurrence of amyotrophic lateral sclerosis, parkinsonism, and dementia
Author(s) -
Schmitt Horst P.,
Emser Wendelin,
Heimes Christian
Publication year - 1984
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410160604
Subject(s) - amyotrophic lateral sclerosis , locus ceruleus , dementia , parkinsonism , parahippocampal gyrus , substantia nigra , neuroscience , medicine , lewy body , pick's disease , hippocampus , pathology , psychology , disease , parkinson's disease , temporal lobe , epilepsy
We report here on a 59‐year‐old man from southwest Germany who died after a 14‐year course of an illness characterized by progressive dementia, parkinsonism, and amyotrophic lateral sclerosis. Postmortem examination revealed Alzheimer's neurofibrillary tangles in the substantia nigra, innominata, locus ceruleus, parahippocampal gyrus, and less frequently in the hippocampus and the cerebral cortex. Investigation of the patient's pedigree back to the 17th century revealed nine additional family members who had exhibited signs of amyotrophic lateral sclerosis or parkinsonism‐dementia or both. The pedigree suggests that a recessive trait with genetic epistasis is responsible for the disorder.