Spinocerebellar ataxia type 7 (SCA7) (Spinocerebellar ataxia type 7) - Gen ATXN7.

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 7 (SCA7) belongs to the autosomal dominant cerebellar ataxias of II (ADCA II) characterized by cerebellar ataxia with degeneration of the retina and pigmentary macular dystrophy.

Spinocerebellar ataxia type 7 (SCA7) is due to mutations in the gene ATXN7, located on the short arm of chromosome 3 (3p21.1-p12). This gene encodes a protein component of SPT3 / TAF9 / GCN5 (STAGA) acetyltransferase complex and chromatin remodeling free TAF TBP (TFTC), and therefore plays a role in the regulation of transcription. The gene acts as SPTBN2 component of the transcription complex STAGA coactivator HAT. Media interaction complex STAGA with CRX and is involved in activation - dependent gene CRX. In addition, it is necessary for the stabilization of the microtubule cytoskeleton.

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 7 (SCA7), by complete PCR amplification of exons ATXN7 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).