Disease Information for Gerstmann-Straussler-Scheinker (GSS) Disease

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Clinical Manifestations
Signs & Symptoms
Akinetic rigid frozen Posture
Rigidity/Muscle/movement
Muscle stiffness/rigidity
Ataxia
Ataxia, Cerebellar type
Bradykinesia
Cerebellar movement disorder/signs
Cerebellar signs
Dysarthria
Limb Ataxia
Near recall/memory deficit/defect
Nystagmus
Staggering Gait
Difficulty Talking
True Vertigo Sign Confirmed
Disease Progression
Course/Chronic disorder
Course/Lethal
Course/Progressive
Course/Progressive/slowly chronic illness
Onset/fifth decade
Onset/fourth decade
Demographics & Risk Factors
Family History
Family history/Dementia
Sex & Age Groups
Population/Forties adult
Population/Thirties adult
Diagnostic Test Results
Pathology
PATH/Amyloid plaques CNS
PATH/Brain abnormal
PATH/Brain/Neuritic senile plaques
PATH/Spongioform degeneration CNS
Associated Diseases & Rule outs
Rule Outs
Creutzfeld-Jacob disease
Associated Disease & Complications
Dementia
Dementia, terminal
Gerstmann-Straussler-Scheinker Disease
Akinetic Rigid Syndrome
Ataxia Disorder
Disease Mechanism & Classification
Specific Agent
AGENT/Prion transmissable disease (ex)
Class
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome 20
Pathophysiology/Gene locus Chromosome 20p
Pathophysiology/Gene PRNP on Chromosome 20
Pathophysiology/Specific mutations of PRNP gene (Prion)
Pathophysiology/CNS Prion Protein Abnormality
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Degenerative/necrosis disorder (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Hereditary ataxia disorder (ex)
Synonyms
Synonym
AMYLOIDOSIS CEREBRAL WITH SPONGIFORM ENCEPHALOPATHY, CEREBELLAR ATAXIA PROGRESSIVE DEMENTIA AND AMYLOID DEPOSITS IN CNS, ENCEPHALOPATHY SUBACUTE SPONGIFORM GERSTMANN STRAUSSLER TYPE, Gerst Straussl Scheinker syndr, GERSTMANN STRAUSSLER DISEASE, GERSTMANN STRAUSSLER INHERITED SPONGIFORM ENCEPH, Gerstmann Straussler Inherited Spongiform Encephalopathy, GERSTMANN STRAUSSLER SCHEINKER DIS, Gerstmann Straussler Scheinker Disease, Gerstmann Straussler Scheinker syndrome, Gerstmann Straussler Scheinker syndrome (disorder), Gerstmann Straussler Syndrome, GSD, GSS Gerstmann Straussler Scheinker syndrome, GSS Gerst Strauss Scheink synd, GSSD, INHERITED SPONGIFORM ENCEPH GERSTMANN STRAUSSLER, Inherited Spongiform Encephalopathy Gerstmann Straussler, PRION DEMENTIA, Synonym/GSS Disease
Definition

Gerstmann-Straussler-Scheinker (GSS) Disease is a rare degenerative brain disease that is transmitted as an autosomal dominant trait; The disorder is typically characterized by increasingly impaired coordination of voluntary movements (cerebellar ataxia), with associated unsteadiness, clumsiness, imbalance, and an abnormal manner of walking (gait disturbances); With disease progression, affected individuals may develop involuntary, rhythmic, rapid eye movements (nystagmus) and abnormally slowed, slurred speech (dysarthria); Additional findings may include stiffness (rigidity), unusually slow movement (bradykinesia), and, in some cases, slowly progressive deterioration of mental functioning (dementia); GSS Disease is caused by certain specific changes (mutations) in the gene (ie, PRNP gene) located on chromosome 20 that regulates production of the human prion protein; Classic GSS Disease is typically distinguished from CJD by an earlier age at symptom onset, a longer duration of disease progression, slowly evolving dementia, more prominent signs of cerebellar ataxia, and differences in degenerative changes of the brain (eg, plaque deposits, "spongiform" changes); However, a form of GSS Disease has been described in a Hungarian family with three affected sisters in whom associated symptoms were indistinguishable from those associated with sporadic CJD; According to researchers, the implications of such findings are currently unknown;

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External Links Related to Gerstmann-Straussler-Scheinker (GSS) Disease
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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