Spinocerebellar ataxia type 6

Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of spinocerebellar ataxia, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to degeneration of the cerebellum and its connections. It is distinguished by the additional feature of episodic ataxia.

Genetics

SCA6 is caused by mutations in the CACNA1A gene, which encodes the α1A subunit of the P/Q type voltage-dependent calcium channel. This channel is highly expressed in the cerebellum, particularly in the Purkinje cells, which are primarily affected in SCA6.

Symptoms

The symptoms of SCA6 can vary but typically include an unsteady gait, poor hand-eye coordination, and dysarthria. These symptoms are due to the degeneration of the cerebellum and its connections, which are responsible for coordinating movement.

Diagnosis

Diagnosis of SCA6 is based on clinical observation of symptoms, a family history of the disease, and genetic testing. Genetic testing can confirm a diagnosis by identifying the mutated CACNA1A gene.

Treatment

There is currently no cure for SCA6. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy to improve mobility and speech therapy to address dysarthria.

See also

• Spinocerebellar ataxia
• CACNA1A
• Ataxia
• Dysarthria

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