gerstmann-straussler-scheinker-disease-gss

Gerstmann-Sträussler-Scheinker disease (GSS)

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Overview

Gerstmann-Sträussler-Scheinker disease (GSS) is an extremely rare, neurodegenerative brain disorder caused by prion (proteins) that misfold in the brain, primarily in the cerebellum.

Symptoms

Typical early symptoms: ataxia (gait changes), balance problems, difficulty walking, incoordination. Sometimes Parkinson’s-like symptoms.

May also include: dysarthria (difficulty speaking), nystagmus (movement of the eyes), hearing problems, spasticity, visual disturbances including double vision, and dementia.

Type

Genetic

Occurrence

At least 56 known families

Duration

2-10 years

Age of onset

Midlife: 30s, 40s, 50s

Diagnosis

Clinical examination, family history, genetic testing, brain MRI, spinal fluid testing (RT-QuIC) (Contact the CJD Foundation for specifics)

Mutations

There are several mutations that cause GSS. The most common mutations include P102L and A117V.

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