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FGF14 (GAA) repeat expansion-associated Ataxia (SCA27B): Expanding the clinical and diagnostic spectrum from the

E M Gatto1, N Gonzalez Rojas2, M E Cesarini2

  • 1Sanatorio de La Trinidad Mitre, Ciudad de Buenos Aires, Argentina; Instituto Neurociencias Buenos Aires (INEBA), Ciudad de Buenos Aires, Argentina.

Parkinsonism & Related Disorders
|September 8, 2026
PubMed

Keywords:
4-AminopyridineEpisodic ataxiaFGF14Late onset ataxiaSCA27B

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...