Article
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Molecular genetics & genomic medicine - 1 Jul 2024
Chamova Teodora, Ivanova Neviana, Cherninkova Sylvia, Koleva Maya, Zlatareva Dora, Bojinova Veneta, Mihova Kalina, Georgiev Martin, Ferdinandov Dilyan, Bichev Stoyan, Kaneva Radka, Mitev Vanio, Jordanova Albena, Tournev Ivailo
Abstract excerpt
BACKGROUND: Autosomal 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). METHODS: Variant filtering was performed usinglocally established...
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