منابع مشابه
Friedreich ataxia: neuropathology revised.
Friedreich ataxia is an autosomal recessive disorder that affects children and young adults. The mutation consists of a homozygous guanine-adenine-adenine trinucleotide repeat expansion that causes deficiency of frataxin, a small nuclear genome-encoded mitochondrial protein. Low frataxin levels lead to insufficient biosynthesis of iron-sulfur clusters that are required for mitochondrial electro...
متن کاملIron and Friedreich ataxia.
Friedreich ataxia is due to insufficient levels of frataxin, a mitochondrial iron chaperone that shields this metal from reactive oxygen species (ROS) and renders it bioavailable as Fe II. Frataxin participates in the synthesis of iron-sulfur clusters (ISCs), cofactors of several enzymes, including mitochondrial and cytosolic aconitase, complexes I, II and III of the respiratory chain, and ferr...
متن کاملcase report of friedreich ataxia (frda)
index case is 17 years old girl with ataxia of gait since 3 years ago. she has been walking normally in past. sensory is normal in her legs. ocular movements are normal. she has mild scoliosis. her electrocardiogram shows t-wave inversions. her parents are cousins& asymptomatic. she has 5 brothers & 3 sisters. one of her brothers & one of her sisters are wheelchair dependent. their history is s...
متن کاملMolecular pathogenesis of Friedreich ataxia.
Friedreich ataxia, the most common type of inherited ataxia, is itself caused in most cases by a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene. The autosomal recessive inheritance of the disease gives this triplet repeat mutation some unique features of natural history and evolution. Frataxin is a mitochondrial protein that has homologu...
متن کاملReview: Friedreich Ataxia and Erythropoietin
In vitro and in vivo studies have provided evidence for neuroprotective properties of Erythropoietin in neurodegenerative disorders. Although the magnitude of effect is still controversial, very recent findings point to neuronal protection in the central nervous system by Erythropoietins. Erythropoietin is a powerful growth factor which enhances cellular size and ultimatively increases the numb...
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ژورنال
عنوان ژورنال: Sri Lanka Journal of Child Health
سال: 2009
ISSN: 2386-110X,1391-5452
DOI: 10.4038/sljch.v30i1.808