Table 1.

Ataxia, comprehensive evaluation.

Gene/test	Technical result	Mutation type	Inheritance	Clinical relevance	Reference
ADCK3	c.1773 T > C	Heterozygous synonymous	Autosomal recessive	Unknown	NM_020247.4
CACNA1A	c.2283 (Isoform1) G > C	Heterozygous synonymous	Autosomal dominant	Unknown	NM_000068.2
SPTBN2	c.%75 + 8C > T	Heterozygous intronic	Autosomal dominant	Unknown	NM_006946.2

All other analyzed segments were negative.