A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation

• DOI: 10.1007/s13760-020-01490-4
• Publication Date: 2020-09-26T12:02:52Z
• Authors: Marwa Maalej; Fatma Kammoun; Marwa Kharrat; Wafa Bouchaala; Marwa Ammar; Emna Mkaouar-Rebai; Chahnez Triki; Faiza Fakhfakh
• Keywords: 0303 health sciences; Base Sequence; DNA Mutational Analysis; DNA, Mitochondrial; Pedigree; 3. Good health; Young Adult; 03 medical and health sciences; Mutation; Humans; Ataxia; Female; Vitamin E Deficiency

Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive cerebellar ataxia disorder that is caused by a mutation in the alpha-tocopherol transfer protein gene TTPA, leading to a lower level of serum vitamin E. Although it is almost clinically similar to Friedreich's ataxia, its devastating neurological features can be prevented with appropriate treatment. In this study, we present a patient who was initially diagnosed with Friedreich's ataxia, but was later found to have AVED. Frataxin gene screening revealed the absence of GAA expansion in homozygous or heterozygous state. However, TTPAgene sequencing showed the presence of the c.744delA mutation, leading to a premature stop codon (p.E249fx). In addition, the result of mutational analysis of MT-DNA genes revealed the presence of several variants, including the m.10044A>G mutation in MT-TG gene. Here, we report for the first time the coexistence of both mitochondrial and nuclear genes mutations in AVED.