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.

Italy, Tunisia, France, Health aspects, Europe, Diagnosis, Gene mutations, Gene mutation, Vitamin E, Ataxia, Friedreich's ataxia, Northern Africa, Heredity, Human, Human heredity

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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.

United Kingdom, Canada, Spain, Puerto Rico, Research, Usage, Abnormalities, Mitochondria, Eye, Chromosome mapping, Genetic disorders, Neurogenetics, Gastrointestinal system, Encephalopathy, Eye abnormalities

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