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gov/gene/PRNP
The PRNP gene is located on the short (p) arm of chromosome 20 at position 13.
More precisely, the PRNP gene is located from base pair 4,686,150 to base pair 4,701,587 on
chromosome 20.
http://www.ncbi.nlm.nih.gov/books/NBK1229/
Clinical Diagnosis
Genetic prion diseases constitute a continuum of clinical manifestations, originally labeled as
familial Creutzfeldt-Jakob disease (fCJD), Gerstmann-Strussler-Scheinker (GSS) syndrome,
and fatal familial insomnia (FFI). Note: A fourth clinical phenotype, known as Huntington disease
like-1 (HDL-1), has been proposed, but this is based on a limited number of cases, and the
underlying pathologic features would categorize it as GSS [Moore et al 2001]. It is now known
that these phenotypes are not distinct entities but rather constitute a spectrum of clinical and
pathologic manifestations of genetic prion disease; nonetheless, certain aspects of these
phenotypes are useful in diagnosis and care. There are no formal diagnostic criteria established
for the genetic forms of disease, although criteria do exist for the non-genetic form of CJD (see
end of this section), which can be used as a general framework for approaching these diseases.
The diagnosis of genetic prion disease requires a combination of the following:
Clinical features comprising varying combinations of adult-onset neurologic signs
and symptoms, including:
Dementia
Psychiatric symptoms
Dyscoordination of movements (ataxia, dysarthria)
Myoclonus (muscle jerks)
Weakness and/or spasticity
Chorea
Stroke-like episodes
Seizures
Autonomic disturbances
Neuropathologic findings include:
Spongiform degeneration and astrogliosis diffusely distributed
throughout the cortex and deep nuclei of the brain (fCJD)
Multiple amyloid plaques to which anti-prion protein (PrP)
antibodies bind (GSS)
A relative lack of spongiform degeneration and presence of
neuronal dropout and gliosis primarily within the thalamus and inferior olivary
nucleus of the brain stem (FFI) [DeArmond & Prusiner 1997]
Family history consistent with autosomal dominant inheritance
A PRNP disease-causing mutation (see Molecular Genetic Testing)
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