Gerstmann–Sträussler–Scheinker syndrome

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GSS (1)

Gerstmann–Sträussler–Scheinker syndrome (GSS) is a rare, fatal neurodegenerative disease that belongs to the group of prion diseases. It is characterized by a combination of ataxia, dementia, and other neurological symptoms. GSS is inherited in an autosomal dominant pattern and is caused by mutations in the PRNP gene, which encodes the prion protein.

Symptoms[edit | edit source]

The symptoms of GSS typically begin between the ages of 35 and 55. The initial symptoms often include ataxia (loss of coordination), which progressively worsens. Other symptoms may include:

As the disease progresses, individuals may experience severe cognitive decline, muscle weakness, and paralysis. The disease is invariably fatal, with death occurring within 2 to 10 years after the onset of symptoms.

Causes[edit | edit source]

GSS is caused by mutations in the PRNP gene, which provides instructions for making the prion protein. These mutations lead to the production of an abnormal form of the prion protein, which accumulates in the brain and causes neurodegeneration. The disease is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

Diagnosis[edit | edit source]

The diagnosis of GSS is based on a combination of clinical evaluation, family history, and diagnostic tests. These may include:

Treatment[edit | edit source]

There is currently no cure for GSS. Treatment is focused on managing symptoms and providing supportive care. This may include:

Prognosis[edit | edit source]

The prognosis for individuals with GSS is poor. The disease is progressive and leads to severe disability and death within a few years of symptom onset. Research is ongoing to better understand the disease and develop potential treatments.

Related Pages[edit | edit source]


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Contributors: Prab R. Tumpati, MD