Catastrophic Visual Loss in a Patient With Friedreich Ataxia
نویسندگان
چکیده
منابع مشابه
Catastrophic visual loss in a patient with Friedreich ataxia.
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder usually characterized by progressive early-onset ataxia. The most common ophthalmic manifestation of FRDA is optic neuropathy, which is usually late in onset, is slowly progressive, and rarely causes severe visual loss. The genetic basis of FRDA in most patients is the homozygous expansion of a GAA trinucleotide repea...
متن کاملFriedreich 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 کاملMolecular and Clinical Investigation of Iranian Patients with Friedreich Ataxia
Background: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-adenine (GAA) triplet expansions in the FXN gene. Its product, frataxin, which severely reduces in FRDA patients, leads to oxidative damage in mitochondria. The purpose of this study was to evaluate the triple nucleotide repeated expansions in Iranian FRDA patients and to elucidate distinguishable ...
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 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...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2007
ISSN: 0003-9950
DOI: 10.1001/archopht.125.2.273