PMC8077635_01
family pedigree showed an autosomal dominant inheritance pattern
PAMJ-38-162-g001.jpg
PMC8077635_01_PAMJ-38-162-g001.jpg
F1
Her family history was remarkable; two of her children were diagnosed with spinocerebellar ataxia (Figure 1).
PMC8077635_02
electrophoretic profile of PCR-amplified CAG repeat expansions (image showed our patient s two SCA7 alleles: the normal allele at 329 bp (10 triplets) and the expanded allele at approximately 443 bp (approximately 50 triplets))
PAMJ-38-162-g002.jpg
PMC8077635_02_PAMJ-38-162-g002.jpg
F2
The fragments analysis revealed the presence of a heterozygote allele with pathological expansion of the CAG triplet of the tested locus, which confirmed the diagnosis of spinocerebellar ataxia type 7 in our patient (the probands: II3) (Figure 2).