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A collection of resources for individuals and families affected by Spinocerebellar Ataxia Type 14 (SCA14).
SCA14 is caused by a genetic mutation that is passed on from parents to their children. In SCA4, genetic defects cause a slow progressive degeneration of cells in the cerebellum. For complete information about symptoms, diagnosis, and treatment of Ataxia, visit our What is Ataxia? page. This page contains NAF’s resources that are specific to SCA14.
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Presented by Dong-Hui Chen, MD, PhD and Thomas Bird, MD
During this webinar, two experts joined us to take a look at the causes and symptoms of Spinocerebellar Ataxia type 14 (SCA14), the typical diagnostic journey for those affected, what to expect for clinical care, and an overview of current research into the disease.
Spinocerebellar Ataxia type 14 (SCA14) is one type of Ataxia among a group of inherited diseases of the central nervous system. The involved gene, discovered in 2003, is located on human chromosome 19 and encodes a protein called protein kinase C gamma (PKCγ, the gene is PRKCG). Inherited defects in this gene cause a slowly progressive degeneration of cells in the cerebellum that causes the neurologic phenotypes of Ataxia. It is not yet known how abnormalities of this protein cause degeneration of the cerebellum.
SCA14 is not common. It represents less than 1% of all the hereditary Ataxias.
The most common symptom of SCA14 is incoordination (ataxia) or walking (gait). Other symptoms may include poor coordination of speaking (dysarthria), and tremor of the hands when reaching for objects. Less common symptoms have included stiffness of the muscles (rigidity), muscular spasms (dystonia) and difficulty swallowing (dysphagia). A few persons with SCA14 have developed brief shaking episodes of the arms or body referred to as myoclonus. Cognitive deficits may be a part of SCA14.
The symptoms of SCA14 typically begin in mid-life (20’s – 40’s), but childhood onset or later adult onset have also been reported. The condition is slowly progressive and may require a cane, walker, or rarely a wheelchair later in life. Life span is not shortened. Currently there is no cure for SCA14.
SCA14 is inherited as an autosomal dominant genetic disease. This means that each child of an affected parent has a 50% risk of inheriting the gene mutation and developing the disease. Males and females are both affected.
A neurological evaluation by a physician makes the diagnosis a Cerebellar Ataxia. A CT or MRI scan of the brain may show atrophy of the cerebellum. However, a specific diagnosis of SCA14 can only be made by a genetic test done on a blood sample. This genetic test is sometimes clearly abnormal, but other times it is difficult to interpret. The test results often need to be evaluated by an expert in genetic medicine.
SCAsource provides Ataxia research news, directly from researchers to the Ataxia community. Visit SCAsource to see their full collection. Here is a collection of articles relevant to SCA14.
Written By Dr. Marija Cvetanovic Edited by Dr. Sriram Jayabal Protein kinase C: one protein that may help to protect against cerebellar neuronal dysfunction & death in spinocerebellar ataxias Among Read More…
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