[Neuroaxonal dystrophy with delayed onset and protracted course (author's transl)].
An unusual case of neuraxonal dystrophy in a 24-year-old man has been described. The condition started at the age of 10 years with motoric disturbances, later the patient developed spastic quadruparesis and deep dementia in last two years. The disease appears to be of genetic origin. The morphology is characterized by the generalized presence of spheroids in the central nervous system. Additional findings of status pigmentosus and dysmyelinisatus do not exclude the case from being labelled neuraxonal dystrophy.
D000328:Adult; D000367:Age Factors; D001344:Autopsy; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000473:pathology*; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000209:etiology; D009896:Optic Atrophy / Q000209:etiology; D011782:Quadriplegia / Q000209:etiology; D013577:Syndrome; D013997:Time Factors
Neuraxonale Dystrophie (Beschreibung einer Spätform mit protrahiertem Verlauf)