PMC8525662_01
Pedigree of the family with SCA40. Squares indicate males; circles indicate females; an arrow indicates the propositus. Slash marks indicate subjects who are deceased. Roman numerals indicate generations, and Arabic numbers indicate subjects. SCA40, spinocerebellar ataxia type 40.
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The pedigree of this research is shown in Figure 1.
Flat pons, not full and mild cerebellar atrophy in T2-weighted MRI.
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MRI showed mild cerebellar and pons atrophy (Figure 2).
CCDC88C gene mutation sequencing results of II-2, II-3, III-4, III-5, IV-1, and IV-2.
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Genetic testing of the proband showed a missense mutation in the CCDC88C gene located at 14q32.11 (Figure 3). The genetic tests revealed heterozygous mutations in the gene CCDC88C in five of the proband's families (Figure 3), but none of them showed any clinical manifestations so far.