Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

Article Abstract:

Ataxia with vitamin E deficiency (AVED) has been shown to be caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). A total of 13 mutations have been found in 27 families. AVED also known as familial isolate vitamin E deficiency and is a rare autosomal recessive neurodegenerative disease. Clinically, symptoms often resemble those of Friedreich ataxia in a striking way, and an early differential diagnosis would be very useful so that prophylactic vitamin E supplementation could be used to prevent irreversible damage. It seems to be much more common in North Africa and the orginal study was of members of Tunisian families.

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Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter

Article Abstract:

The mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome has been studied in 4 famlilies of different ethnic extractions has been mapped to chromosome 22q13.32-qter. The syndrome is a clinically characterized by progressive external ophthalmoplegia, gastrointestinal dysmotility, thin body habitus, leukoencephalopathy, ptosis, myopathy, and is rare. It involves defects in oxidative-phosphorylation and mtDNA deletions, often in skeletal muscle. It is apparently an autosomal recessive disorder.

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ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme [Q.sub.10] deficiency

Article Abstract:

The significance and the role of the ancestral kinase, aarF-domain-containing kinase 3 gene (ADCK3) in the ubiquinone synthesis are discussed. ADCK3 mutations are found to regulate the production of ATP, hence leading to the deficiency of coenzyme [Q.sub.10].

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