SCA-14 Spinocerebellar Ataxia Type 14, PRKCG Gene mutation Test
SCA-14 Spinocerebellar Ataxia Type 14, PRKCG Gene mutation Test
Ataxia is a condition where different aspects like muscle movement, posture, gait, coordination, and speech are affected. Usually, abnormal repeats in the DNA sequences coding for the building blocks of proteins, called amino acids, create misfolded proteins, which causes ataxia. Abnormal proteins can also be produced if there are deletions, or other abnormalities in the DNA sequence. When these misfolded or abnormal proteins affect the cerebellum, which is a part of the brain responsible for muscle movement and coordination, and the spinal cord, this type of ataxia is called the spinocerebellar ataxia (SCA). Different patterns of repeats in the DNA sequences, present in different locations in certain genes, result in different types of SCA (called subtypes), for example SCA 1, 2, 3, 6, 7, 12 etc. One of these subtypes, is the SCA-14, which is a rare condition. It is caused by deletions, and other abnormalities, instead of repeats in DNA sequences. The symptoms are similar to other ataxias. Studies are still ongoing to understand what causes this disease, as it is a rarely reported disease. The SCA-14 test is done to check for the abnormalities in the gene associated with this subtype, called PRKCG.
What is the SCA-14 Spinocerebellar Ataxia Type 14, PRKCG Gene mutation Test Used For?
SCA-14 test is used for finding if a person has this particular subtype of SCA. It is usually recommended after testing for more common subtypes like SCA-1, 2, 3, 6, 7, also known as the SCA Comprehensive Panel.
Symptoms of SCA-14
This test is recommended for people who are at the risk of SCA-14. Some of the symptoms of SCA-14 are
Worsening gait and posture
Hand Tremors
Speaking difficulty due to tongue muscle weakness
Psychiatric Issues
Rigid muscles
Muscle spasms
Trouble swallowing food
Preparation for Test
Before the test, let your general physician know of any medication, supplements or treatments that you are consuming or are currently undergoing. No other special preparations are required.
Interpretation of Test Results
DNA is composed of building blocks called nucleotides, and these can be of four types (A: Adenine, T: Thymine, C: Cytosine, G: Guanine). Depending on the combination of these nucleotides, different amino acids can be coded, forming proteins.
Positive Test: Presence of abnormality in the gene (PRKCG) that produces an enzyme called protein kinase C gamma, indicates the possibility that you may have or develop SCA-14. These abnormalities can be deletions of certain sequences in the gene, or an abnormality called missense mutation, where a single nucleotide can eventually change the protein being produced. Unlike other SCA types, this one does not involve CAG repeats.
Negative test: Absence of any abnormality in the gene PRKCG, decreases the likelihood of your developing SCA-14. As this is a rare disease with very few reported cases, the abnormalities in the gene that can cause this disease are being studied further.
FAQs
How is the sample collected for the SCA-14 test?
A blood sample is collected from a vein in your arm.
What is the turnaround time (TAT) for SCA-14 test?
The tests results should come within 3-5 days after the sample is taken. This time would depend on the diagnostic laboratory that has taken the sample for analysis.
What is the treatment for this subtype of SCA?
SCA-14 does not have a cure. By using medications for managing symptoms like tremors, psychiatric symptoms pain and muscle issues associated with SCA-14. Physiotherapy and psychological interventions can also help improve motor learning and control, posture etc. As, SCA-14 is a rare condition, studies are being conducted to discover more effective treatments for this condition.
Who is more likely to have this subtype?
As SCA-14 is a very rare condition with few reported cases, no specific patterns have been observed. Men and women have similar chances to have this condition, with symptoms being observed in the age group of twenties to forties. Cases were reported sporadically in different parts of the world, in countries like Japan.
Does this disease get worse with time?
Usually with time, the symptoms of this disease may worsen.SCA-14 is known to have a slower progression compared to other subtypes of this condition.
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