Spinocerebellar ataxia type 27 (SCA27) (Spinocerebellar ataxia type 27) - Gen FGF14

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 27 (SCA27) is a slowly progressive autosomal dominant cerebellar ataxia (ADCA), whose age of onset can vary from late childhood to early adulthood. SCA27 is characterized by ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and cognitive deficits.

This disease is due to mutations in the FGF14 gene, located on the long arm of chromosome 13 (13q34). This gene encodes a protein family of fibroblast growth factor (FGF). Members of the FGF family possess a wide range of activities of mitogen survival and cell and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair and invasion and tumor growth.

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 27 (SCA27), by complete PCR amplification of the exons of the FGF14 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).