Familial occurrence of amyotrophic lateral sclerosis, parkinsonism, and dementia

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Abstract
A 59-yr-old man from southwest Germany who died after a 14-yr course of an illness characterized by progressive dementia, parkinsonism and amyotrophic lateral sclerosis [ALS] is reported. 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 9 additional family members who had exhibited signs of ALA or parkinsonism-dementia or both. The pedigree suggests that a recessive trait with genetic epistasis is responsible for the disorder.