Spinocerebellar Ataxia is a genetic disorder which isprogressive, degenerative, and often fatal. The clinical marker of all SCAs isa progressive loss of balance and coordination accompanied by slurred speech. The mobility and communicative skills of individuals with an SCA are restricted, which strongly impairs quality of life, and many SCAs lead to premature death.
Genetically, the SCAs fall into two major groups: thosecaused by dynamic repeat expansion mutations (repeat expansion SCAs) and thosecaused by nonrepeating mutations. Repeat expansions are also a major cause of non-SCA inherited neurological diseases; these diseases share common features, such as anticipation (i.e., the tendency for disease symptoms to worsen from generation to generation).
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There are at least 12 repeat expansion SCAs. Six of these diseases—SCA1, SCA2, SCA3/Machado–Joseph disease, SCA6, SCA7, and SCA17 are caused by translated CAG repeat expansion mutations that encode stretches of pure glutamine in the respective disease proteins; these diseases are thus referred to as polyglutamine SCAs.
Till date, >40 SCA genetic subtypes have been identifiedand research work is still in progress to find out more information. Out of theautosomal dominant ataxias, SCA3 is the most common worldwide, followed by SCA1, 2, 6, and 7.
Genetic testing provides the sole confirming diagnosis ofSCA. Even the most common form of SCA in US populations (SCA3) is likely totest negative more than 99% of the time in a patient displaying ataxia without a family history. While positive results on genetic tests for SCA subtypes provide a definitive diagnosis for ataxia in a patient, the interpretation of a negative result is much less well defined, and yet negative results are common, even among well-screened patients.
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