SCA16

SCA16 refers to Spinocerebellar Ataxia type 16. It is a rare, inherited neurological disorder that affects the cerebellum, a part of the brain responsible for coordination and balance. The condition is characterized by progressive problems with movement and coordination. Symptoms typically begin in adulthood, though the exact age of onset can vary. Individuals with SCA16 may experience difficulties with walking, leading to an unsteady gait, tremors, and problems with speech articulation. Fine motor skills can also be impaired, making tasks requiring precise movements challenging.

The genetic cause of SCA16 has been linked to mutations in the TTBK1 gene, which encodes a protein kinase. This gene plays a role in neuronal function and survival. The inheritance pattern for SCA16 is autosomal dominant, meaning that a person needs to inherit only one copy of the mutated gene from either parent to develop the condition. Each child of an affected individual has a 50% chance of inheriting the mutation and developing SCA16. Diagnosis usually involves a neurological examination, assessment of symptoms, and genetic testing to confirm the presence of a mutation in the TTBK1 gene. Currently, there is no cure for SCA16, and treatment focuses on managing symptoms and improving quality of life through physical and occupational therapy.