Gerstmann–Sträussler–Scheinker syndrome

Gerstmann–Sträussler–Scheinker syndrome is a rare inherited prion disease caused by pathogenic variants in PRNP. It typically produces slowly progressive cerebellar ataxia and cognitive decline.

PRNP: The gene encoding cellular prion protein, whose pathogenic variants cause inherited prion diseases. Pathogenic PRNP variants are the genetic cause of this syndrome.
Cerebellar ataxia: Impaired coordination and balance caused by dysfunction of the cerebellum or its connections. Progressive gait and limb incoordination are frequent early features.
Autosomal dominant inheritance: A pattern in which one altered copy of a gene can cause a trait or disorder. A pathogenic PRNP variant can be passed through successive generations in this pattern.
Genetic testing: Analysis of DNA to identify variants associated with inherited traits or disease. Testing can confirm a suspected pathogenic PRNP variant in an affected person.
Prion: An infectious or disease-associated protein that propagates by inducing abnormal folding of the same protein. Misfolded prion protein accumulates in the brain and drives neuronal injury.
Dementia: Acquired decline in cognitive abilities severe enough to interfere with independent functioning. Cognitive impairment may emerge as the neurological disease advances.
Genetic prion disease: A prion disorder caused by an inherited pathogenic variant in PRNP. This syndrome is one clinical form within this broader disease family.
Predictive genetic testing: Testing an asymptomatic person for a genetic variant associated with future disease risk. At-risk relatives may consider testing after counseling, though results cannot predict exact onset.
Prion protein: A host-encoded protein found chiefly on cell surfaces, with normal and disease-associated conformations. The disease-associated form aggregates into characteristic amyloid deposits.
Neuropathology of Gerstmann–Sträussler–Scheinker syndrome: The characteristic brain changes associated with Gerstmann–Sträussler–Scheinker syndrome. Examination often reveals multicentric prion-protein amyloid plaques, especially in cerebellar tissue.

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Variant Creutzfeldt–Jakob diseaseCompared with: It is another human prion disease, but typically follows an inherited course rather than BSE exposure.