The first analysis of multiple cause-of-death data for Huntington's disease in the United States was performed, using data from the National Center for Health Statistics for the period 1971 and 1973 through 1978. The overall mortality rate was 2.27 per million population per year, approximately 80% higher than the corresponding rate for deaths in which Huntington's disease was listed as the underlying cause of death. Age-specific mortality rates peaked around age 60. Rates were similar for both sexes, and higher in whites than nonwhites. Age-adjusted rates were similar for United States whites and reported values from the Scandinavian countries. The leading causes of death were pneumonia and heart disease. Other common causes of death were nutritional deficiencies; mental disorders; cerebrovascular disorders; and accidents, poisonings, and violence. Suicide was rarely reported.
These validation studies support the usefulness of the CCCE for identifying patients with generalized dementia, rather than focal types of cognitive impairment, quickly and reliably in cross-cultural neuroepidemiological research.
Neuronal intranuclear inclusion disease (NIID) is a rare and heterogeneous group of slowly progressive neurodegenerative disorders characterized by the widespread presence of eosinophilic neuronal intranuclear inclusions (NII) accompanied by a more restricted pattern of neuronal loss. We report here the pathologic findings in a 13-year-old boy who died after a 6-year clinical history of progressive ataxia, extrapyramidal manifestations, and lower motor neuron abnormalities. Histological evaluation of the brain revealed widespread NII in most neurons. Marked loss of cerebellar Purkinje cells and neurons in the dentate nucleus, red nucleus, and spinal cord anterior horns was accompanied by a modest astrocytosis. Because of the abundance of NII and the absence of a relationship between NII and neuronal loss or microglial activation, we conclude that loss of cerebellar, brainstem, and spinal cord neurons reflects selective neuronal vulnerability. NII were immunoreactive for ubiquitin, glucocorticoid receptor, and SUMO-1, a small, ubiquitin-like protein purportedly involved in protein transport and gene transcription. NII were non-reactive for polyglutamine (1C2), TATA binding protein, promyelocytic leukemia protein, heat shock protein 90, tau, alpha-synuclein, neurofilament, and beta amyloid. The moderate ubiquitin and strong SUMO-1 staining of NII in juvenile cases is the reverse of the pattern noted in adult diseases, suggesting the two age groups are pathogenically distinct. We suggest that juvenile NIID is a spinocerebellar brainstem ataxic disease possibly related to an abnormality in SUMOylation.
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