Dementia with ALS features and diffuse Pick body-like inclusions (atypical Pick's disease?)

An autopsy case of dementia beginning with right hand muscle atrophy was reported. A 42-year-old woman with no family history of neurologic disease developed weakness of the right hand at age 30, and was diagnosed as having amyotrophic lateral sclerosis (ALS). The weakness and atrophy spread to the four extremities subsequently. At age 36, she could not walk without assistance. At age 38, she was first noted as having dementia with forced crying, and she also showed generalized muscle weakness and atrophy. She rapidly developed akinetic mutism, and died of respiratory failure at age 42, 12 years after the onset of the symptoms. Macroscopically, the brain showed fronto-temporal atrophy. Microscopic examination revealed numerous intracytoplasmic inclusions throughout the central nervous system (CNS) including anterior horn of the spinal cord. The inclusions were stained moderate to dark brown with silver stain. Electron microscopically, they consisted of fibrils covered along most of the length with granular and fuzzy materials. This case was thought to be difficult to categorize in any known neuro-degenerative diseases. We proposed the case to be "atypical Pick's disease" with ALS features. This case might be a new entity of neuro-degenerative disease.