Table 1.

Molecular Genetic Testing Used in Spinocerebellar Ataxia Type 37

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
DAB1 Targeted analysis for pathogenic variants 3100% 4
1.
2.

See Molecular Genetics for information on variants detected in this gene.

3.

Long-range PCR combined with Sanger sequencing has been shown to be a reliable method to detect and characterize the ATTTC repeat insertion (see Single-Gene Testing). Repeat-primed PCR (RP-PCR) may not be specific for pathogenic SCA37 ATTTC alleles and is not recommended, since it also has the potential for negative results.

4.

Insertion of a variable number of ATTTC repeats flanked by two stretches of non-pathogenic polymorphic (ATTTT)n repeats in DAB1 is the mutational mechanism in all families with SCA37 examined to date [Seixas et al 2017, Corral-Juan et al 2018].

From: Spinocerebellar Ataxia Type 37

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