Spinocerebellar ataxia type 14 (SCA14) (Spinocerebellar ataxia type 14) - Gen PRKCG
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 14 (SCA14) is an autosomal dominant cerebellar ataxia (ADCA) due to mutations in the gene PRKCG, located on the long arm of chromosome 19 (19q13.4). This gene encodes a protein family of protein kinases C (PKC). This protein kinase is expressed only in the brain and spinal cord and its location is restricted to neurons. It has been shown that various neuronal functions, including long - term potentiation (LTP) and long - term depression (LTD), particularly require this kinase. Multiple roles in neuronal cells and ocular tissue, such as the regulation of GRIA4 / GluR4 and GRIN1 / NMDAR1 neuronal receptors, modulation of receptors and neuronal functions related to the sensitivity to opioids, pain and ethanol, mediation of synaptic function and cell survival after ischemia.
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 14 (SCA14), by complete PCR amplification of the exons of the gene PRKCG, 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).