Spinocerebellar ataxia type 13 (SCA13) (Spinocerebellar ataxia type 13) - Gen KCNC3.
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of disorders of the cerebellum group 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. Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominant cerebellar ataxia (ADCA), characterized by a slowly progressive and age at onset of symptoms varying, ranging from childhood to late adulthood. In addition, some affected individuals may have mental retardation.
This disease is due to mutations in the gene KCNC3, located on the long arm of chromosome 19 (19q13.33). This gene encodes a mediating ion permeability potassium voltage - dependent protein excitable membranes. This protein, open or shut conformations in response to the voltage difference across the membrane, to form a selective potassium channel through which ions may pass potassium according to their electrochemical gradient.
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 13 (SCA13), by complete PCR amplification of exons KCNC3 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).