Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay
Teodora Chamova,
Neviana Ivanova,
Sylvia Cherninkova
et al.
Abstract:BackgroundAutosomal recessive spastic ataxia ofCharlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder characterizedby early‐onset cerebellar ataxia, peripheral sensorimotor neuropathy, and lowerlimb spasticity. We present clinical andgenetic data of the first Bulgarian patients diagnosed with ARSACS by wholeexome sequencing (WES).MethodsVariant filtering was performed usinglocally established pipeline and the selected variants were analysed by Sangersequencing. All patients underwent clinical examin… Show more
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