Spinocerebellar ataxia type 10 (SCA10) (Spinocerebellar ataxia type 10) - Gen ATXN10.

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 10 (SCA10) is an autosomal dominant cerebellar ataxia (ADCA). This disease is due to mutations in the gene ATXN10, located on the long arm of chromosome 22 (22q13.31). This gene encodes a protein that can act in neuronal survival, differentiation and neuronal neuritogenesis. These functions can be accomplished through activation of kinase cascade mitogen activated protein. Expanding a pentanucleotide repeat in an intron region of this locus it is associated with spinocerebellar ataxia type 10.

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 performed in IVAMI: in IVAMI perform detection of mutations associated with spinocerebellar ataxia type 10 (SCA10), by complete PCR amplification of exons ATXN10 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).