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City Stoneham / Stockholm / New / Washington / / Company CJD / Goldman / GENETEST REVIEW / GE / Baker HF / HP / Cold Spring Harbor Laboratory Press / / Country Slovakia / United Kingdom / China / Italy / Sweden / Guinea / United States / / / Facility University of Chicago / Hall DA / Cold Spring Harbor / / IndustryTerm protein product / magnetic resonance imaging / imaging / beef products / disability insurance coverage / Normal gene product / cognitive processing / treatment for prion diseases / brain imaging / gene product / polymorphic site / / MedicalCondition myoclonic jerks / Gerstmann-Sträussler-Scheinker syndrome / When sporadic disease / appendicular ataxia / dysarthria / Whipple disease / E200K Creutzfeldt-Jakob disease / dementia / neurodegenerative diseases Prion disease / seizures / neurologic disease / Iatrogenic CJD / sexual and urinary tract dysfunction / Nomenclature Spastic pseudosclerosis / hallucinations / FFI CLINICAL DIAGNOSIS OF PRION DISEASES Genetic prion diseases / inherited prion disease / motoric incoordination / sporadic CreutzfeldtJakob disease / several other neurodegenerative diseases / episodic hyperventilation / chorea / prion disease / systemic CNS vasculitides / adult-onset neurologic signs / Huntington disease / multiple sclerosis / bradykinesia / fatal neurodegenerative disorders / Normal/Disease / familial fatal insomnia / treatable diseases / sporadic Creutzfeldt-Jakob disease / Paget disease / infectious prions / alien hand syndrome / Phe198Ser GSS 598G⬎A Glu200Lys CJD 623G⬎A Arg208His CJD 628G⬎A Val210Ile CJD / Pick disease / Genetic counseling Genetic prion disease / Creutzfeldt-Jakob disease / parkinsonism / Gerstmann-Straussler disease / dysphagia / inclusion body myopathy / CJD / progressive supranuclear palsy / stroke / cognitive impairment / Other prion diseases / variant CreutzfeldtJakob disease / Cognitive dysfunction / frontotemporal dementia / genetic prion disease / unsteady gait / diseases / clear cognitive impairment / Variant CJD / Sporadic and familial CJD / CHMP2B-related frontotemporal dementia / limbic encephalitis / genetic prion diseases / depression / prion-unrelated neurological diseases / frontotemporal lobar dementias / genetic and nongenetic prion disease / sporadic fatal insomnia / et al. Sporadic Creutzfeldt-Jakob disease / G Gln217Arg GSS 695T⬎G Met232Arge CJD / double vision / familial insomnia / myoclonus / neurologic signs / herpes encephalitis / Familial prion disease / progressive dysarthria / Sporadic CJD / strain / mild dysarthria / movement disorder / CJDc 538G⬎A Val180Ile CJD 547A⬎G Thr183Ala CJD / adult-onset disorders / tremor / encephalopathy / inherited ataxias / familial Creutzfeldt-Jakob disease / apparently sporadic neurodegenerative dementias / deletion modifying 385A⬎G Pathologic Disease / familial CJD / specific PRNP 20pter-p12 Major prion protein Prion protein/ CJD / prominent insomnia / neuropsychiatric disorders / cerebellar dysfunction / MS / infections / sporadic and genetic prion disease / motor neuron disease / Autoimmune diseases / ataxia / cerebellar ataxia / See Genetically Related Disorders / Gerstmann-Stra¨ussler-Scheinker syndrome / insomnia / rapid disease / disease / fatal familial insomnia / Inherited prion diseases / end stage disease / thyroiditis / paraneoplastic syndromes / neurological disease / prion diseases / Lugaresi E. Fatal familial insomnia / GRN-related frontotemporal dementia / related encephalopathy / Variant CJD Variant CJD / related disorders / mad cow disease / further injury / less frequent neurologic signs / nongenetic prion disease / rapidly progressive dementia / bovine spongiform encephalopathy / Alzheimer disease / neurodegenerative diseases / GENOTYPE-PHENOTYPE CORRELATIONS Familial Fatal Insomnia FFI / progressive dementia / genetic human transmissible spongiform encephalopathies / / MedicalTreatment Antiviral therapies / antibiotics / counseling / / NaturalFeature Curtis MT / / Organization The University of Chicago / Chicago / TSE Advisory Committee Board / National Institute of Health / Brain Research Foundation / Department of Neurology / U.S. Food and Drug Administration / Pioneer Fund / / Person Ann Neurol / Arch Neurol / Hashimoto / James A. Mastrianni / J. A. Mastrianni / / Position editor / social worker / consultant / member / / Product clonazepam / glycine / carbamazepine / amphotericin B / / ProvinceOrState Illinois / / RadioStation Andres AM / / Region Middle East / South Maryland / Eastern Europe / / Technology prions / magnetic resonance imaging / Genotype / tomography / antibodies / cell signaling / transplantation / gene analysis / MRI / / SocialTag 
GENETEST REVIEW Genetics in Medicine The genetics of prion diseases James A. Mastrianni, MD, PhD