ON THE SO-CALLED HEREDITARY ATAXIA, FIRST DESCRIBED BY FRIEDREICH
نویسندگان
چکیده
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 کاملTreatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes.
BACKGROUND Hereditary ataxia syndromes can result in significant speech impairment, a symptom thought to be responsive to treatment. The type of speech impairment most commonly reported in hereditary ataxias is dysarthria. Dysarthria is a collective term referring to a group of movement disorders affecting the muscular control of speech. Dysarthria affects the ability of individuals to communic...
متن کاملFriedreich ataxia , the oxidative stress
1 Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS/INSERM/Université Louis Pasteur, 67404 Illkirch cedex, CU de Strasbourg, France. 2 Institut de Chimie des Substances Naturelles (ICSN), CNRS, avenue de la Terrasse, 91190 Gif-sur-Yvette, France. 3 Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG), University of California Irvine, Irvine, CA 92697,...
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 کاملOn so - called truncated clefts
As these authors observe, the sentences in (1) and (2) are similar in both form and meaning. The truncated clefts in (1) look like the clefts in (2) minus the cleft clause, and in the right contexts, each of the sentences in (1) can be used with the meaning of the corresponding sentence in (2). Following a question like Who went to Hamburg?, (1b) can be used to convey what (2b) conveys, and fol...
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ژورنال
عنوان ژورنال: Brain
سال: 1884
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/7.1.105