KUFS-DISEASE (ADULT TYPE NEURONAL CEROID- LIPOFUSCINOSIS) WITH AMYOTROPHY AND PROGRESSIVE DEMENTIA

A 26-year-old housewife, born of consanguineous parentage, began to ha ve gait and speech disturbance Her brother had died from suffocation b ecause of dysphagia. At thirty-two, she developed difficulty in swallo wing, clumsiness and incontinence. When she was thirty-six she had pse udobulbar palsy, vertical gaze paresis, hyperreflexia and muscular atr ophy of the upper half of the body. CT scan showed cerebral atrophy. H er mental function progressively deteriorated and amyotrophic lateral sclerosis associated with dementia was suspected. She died at the age of thirty-seven. Diagnosis was made only by autopsy. There was no part icular general pathologic finding excepting aspiration pneumonia. Micr oscopical examination revealed numerous distended neurons with accumul ation of light brown pigments by Luxol fast blue/H & E stains, especia lly in hypothalamus, substantia nigra and nuclei of oculomotor nerves. To a lesser extent such neurons were noted ubiquitously. The stored m aterial was mainly composed of lipofuscin and ceroid. Ultrastructurall y the by presented the various structures which have previously been r eported, except for finger print profiles. The pigmentary deposits wer e shown to be immunoreactive with polyclonal antibody, directed agains t amyloid beta-protein.