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

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, it...

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Bibliographic Details
Published in:Acta neurologica Belgica 2021-12, Vol.121 (6), p.1733-1740
Main Authors: Maalej, Marwa, Kammoun, Fatma, Kharrat, Marwa, Bouchaala, Wafa, Ammar, Marwa, Mkaouar-Rebai, Emna, Triki, Chahnez, Fakhfakh, Faiza
Format: Article
Language:English
Subjects:
Ataxia - diagnosis
Ataxia - genetics
Base Sequence
Biomedical and Life Sciences
Biomedicine
DNA Mutational Analysis - methods
DNA, Mitochondrial - genetics
Female
Humans
Medicine/Public Health
Mutation - genetics
Neurology
Neuroradiology
Neurosciences
Original Article
Pedigree
Vitamin E Deficiency - diagnosis
Vitamin E Deficiency - genetics
Young Adult
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Summary: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, TTPA gene 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.
ISSN:0300-9009
2240-2993
DOI:10.1007/s13760-020-01490-4