A novel prion disease associated with diarrhea and autonomic neuropathy.

ABSTRACT:

Background

Human prion diseases, although variable in clinicopathological phenotype, generally present as neurologic or neuropsychiatric conditions associated with rapid multifocal central nervous system degeneration that is usually dominated by dementia and cerebellar ataxia. Approximately 15% of cases of recognized prion disease are inherited and associated with coding mutations in the gene encoding prion protein (PRNP). The availability of genetic diagnosis has led to a progressive broadening of the recognized spectrum of disease.

Methods

We used longitudinal clinical assessments over a period of 20 years at one hospital combined with genealogical, neuropsychological, neurophysiological, neuroimaging, pathological, molecular genetic, and biochemical studies, as well as st

SUBMITTER: Mead S 

PROVIDER: S-EPMC3863770 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature