Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature

ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein

“…With regards to elevated AFP, whole exome sequencing in our case ruled out other autosomal recessive cerebellar ataxias, including ataxia telangiectasia as the cause, as the genes ATM, APTX, PNKP and SETX (ataxia telangiectasia, AOA-1, 4 and 2 respectively) were checked for with 100% coverage. During the development of the fetus, AFP is normally highly expressed, and gradually, over 2 years, it reaches the adult value [3]. It is produced in the liver and is involved in ligand transport, scavenging free radicals, as well as lipid peroxidation [12].…”

“…Ataxia telangiectasia is one of the most common inherited causes of childhood onset ataxia, which is characterized by ataxia, oculomotor apraxia, choreoathetosis and elevated alpha-fetoprotein (AFP) levels. Increased values of AFP can also be noted in other autosomal recessive cerebellar ataxias (ARCA) such as Ataxia-oculomotor apraxia (AOA) [3]. We hereby report a case of a 14-year-old girl with ARV1 gene mutation presenting like autosomal recessive ataxia with elevated AFP level, and present a comparative literature review of the existing knowledge about this ARV1 gene.…”