Familial neurodegenerative disease with parkinsonism syndrome and amyotrophic lateral sclerosis

Abstract

The concurrence of amyotrophic lateral sclerosis (ALS) with parkinsonism syndrome and dementia is described as Guam ALS, in which up to 70% of patients have a positive family history. The concurrence of parkinsonism with other neurological disorders, such as autonomic failure, dementia, cerebellar ataxia, visual disturbances, and pyramidal syndrome, is characteristic of some neurodegenerative diseases, for example, multiple system atrophy, dementia with Lewy bodies, progressive supranuclear palsy, and corticobasal degeneration. These diseases are common in the practice of a neurologist, have a detailed description and clear diagnostic criteria. The isolated concurrence of parkinsonism and ALS without other neurological disorders is extremely rare. This disorder is known as Brait–Fahn–Schwartz disease and is named after the scientists who first described this overlap syndrome. No cases of familial neurodegenerative disease concurrent with parkinsonism and ALS have been found in the literature. This paper presents the authors' own case of two siblings, one of whom is observed to have parkinsonism with ALS syndrome; and the other had Parkinson's disease.