[A familial syndrome: a combination of Pick's disease and amyotrophic lateral sclerosis]

The association of Pick's Disease (PD) and Amyotrophic Lateral Sclerosis (ALS) as a familial syndrome is reported for the first time. Four members in two generations of the investigated family suffered from this syndrome, allowing the hypothesis of a dominant mode of inheritance. PD is primary, with onset at 58 to 67 years: loss of interests, depression, aggressivity, perseveration , stereotypies, reduction of speech until total mutism; a few months later appear ALS signs: fasciculations and/or pyramidal symptoms. The total evolution is 3 to 5 years. The brain showed a fronto-temporal atrophy spreading to the precentral gyrus with cortical and white matter gliosis, neuronal loss, atrophic neurons and some ballooned cells, but without senile plaques (SP), neurofibrillary tangles (NFT) or cortical spongiosis; the spinal cord and the medulla oblongata showed typical ALS lesions; mild lesions in the basal nuclei, particularly in the substantia nigra and the pallidum. The differential diagnosis is discussed with: Alzheimer's Disease + ALS (SP + NFT); the Guam syndrome (NFT); Creutzfeldt-Jakob's Disease (cortical microspongiosis); ALS + dementia (primary ALS); Mitsuyama's syndrome (primary dementia and secondary ALS, but with cortical spongiosis and without familial incidence).