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

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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