Hereditary diffuse leucoencephalopathy with spheroids.

摘要: The clinical, genetic, and morphological features of a previously unknown progressive neuropsychiatric disease are presented. By genealogical investigation the background an uncharacteristic case presumed organic psychosis, we traced 71 relatives from four generations. anamnestic data showed various combinations psychiatric symptoms (depression, anxiety, aggressiveness, severe dementia), neurological (impaired balance with retropulsion, hyperkinesia, epilepsy), somatic (gastrointestinal disorders, arthritis, gynaecological problems) in 17 (11 dead 6 living) members family. Age at onset varied between 8 60 years. Some patients rapidly developed dementia died few months after symptoms, while others course was prolonged over several decades. genetic interpretation indicated autosomal dominant inheritance possible full penetrance but widely variable expressivity. Morphological studies were performed on central nervous system decreased family (three siblings their maternal uncle). same type widespread leucoencephalopathy seen autopsy cases. It characterised by degeneration loss myelin sheaths axons, occurrence numerous neuroaxonal spheroids affected white matter, accumulation lipid-laden macrophages, gliosis. bilateral, frontal, fronto-parietal, temporal locations most pronounced, diffusely demarcated lesions corresponded fairly well to psychosyndrome its main substrate forebrain. For this new clinico-pathological entity, name "hereditary diffuse spheroids" (HDLS) is proposed. As working hypothesis, it suggested that not only also immunological endocrine factors may contribute development disease.