Gerstmann–Sträussler–Scheinker syndrome

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

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:

• Dementia
• Dysarthria (difficulty speaking)
• Spasticity (muscle stiffness)
• Nystagmus (involuntary eye movements)
• Visual disturbances

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

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

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

• Genetic testing to identify mutations in the PRNP gene
• Magnetic resonance imaging (MRI) to detect brain abnormalities
• Electroencephalography (EEG) to assess brain activity

Treatment

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

• Physical therapy to improve mobility and coordination
• Speech therapy to address speech difficulties
• Medications to manage symptoms such as muscle stiffness and seizures

Prognosis

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

• Prion disease
• Creutzfeldt–Jakob disease
• Fatal familial insomnia
• Kuru (disease)
• Ataxia
• Dementia