Spinocerebellar ataxia type 5 (SCA5) (Spinocerebellar ataxia type 5) - Gen SPTBN2.

Spinocerebellar ataxia type 5 (SCA5) is a disorder of the cerebellum in which affected individuals show a progressive deterioration of locomotor coordination, dysarthria, and eye movements uncoordinated, because cerebellar degeneration with variable involvement of the brainstem and spinal cord. This alteration is a slowly progressive disease whose age at onset of symptoms can be variable, ranging from 10 to 50 years old.

Spinocerebellar ataxia type 5 (SCA5) is due to mutations in the gene SPTBN2, located on the long arm of chromosome 11 (11q13). This gene encodes a non - erythrocytic 2 or spectrin beta-III protein called beta spectrin. This protein is related to erythrocyte spectrin not beta1 (SPTBN1). SPTBN2 regulates glutamate signaling pathway by stabilizing EAAT4 glutamate transporter on the surface of the plasma membrane.

This disease is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient for the disease to be expressed.

Tests in IVAMI: in IVAMI perform detection of mutations associated with spinocerebellar ataxia type 5 (SCA5), by complete PCR amplification of exons SPTBN2 gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).