Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

Friedreich ataxia (FRDA), the most common autosomal recessive neurodegenerative disease among Europeans and people of European descent, is characterized by an early onset (usually before the age of 25), progressive ataxia, sensory loss, absence of tendon reflexes and pyramidal weakness of the legs....

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Bibliographic Details
Published in:	Nature genetics Vol. 29; no. 2; pp. 184 - 188
Main Authors:	Takiyama, Yoshihisa, Sakai, Tetsuo, Igarashi, Shuichi, Nishizawa, Masatoyo, Awaya, Yutaka, Uekawa, Kazutoshi, Saito, Kayoko, Takahashi, Tatsuya, Date, Hidetoshi, Kawachi, Izumi, Sugano, Sumio, Iwabuchi, Kiyoshi, Koike, Ryoko, Fukuhara, Nobuyoshi, Tanaka, Hajime, Hiroi, Tadashi, Sekijima, Yoshiki, Tsuji, Shoji, Onodera, Osamu, Yuasa, Tatsuhiko, Nagatomo, Hideki
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group 01-10-2001
Subjects:	Amino Acid Sequence Amino acids Animals aprataxin Apraxia Apraxias - complications Apraxias - genetics APTX gene Ataxia Ataxia - complications Ataxia - genetics Biological and medical sciences chromosome 9 Chromosome Mapping Chromosomes, Human, Pair 9 Complications and side effects Diagnosis Disease DNA-Binding Proteins - chemistry DNA-Binding Proteins - genetics Female Friedreich's ataxia Fundamental and applied biological sciences. Psychology Gene mutations Genes. Genome Genetic aspects Genetic Linkage Genotype & phenotype Haplotypes Hospitals Humans Identification and classification Male Molecular and cellular biology Molecular genetics Molecular Sequence Data Mutation Neurology Nuclear Proteins - chemistry Nuclear Proteins - genetics Oculomotor Muscles - physiopathology oculomotor system Pediatrics Pedigree Phylogeny Protein metabolism disorders Psychiatry Publishing Risk factors Sequence Homology, Amino Acid Serum Albumin - metabolism Japan Nervous system diseases Albumin Cerebral disorder Hypoalbuminemia Metabolic disorder Gene Central nervous system disease Ataxia Early Apraxia Earliness Mutation Neurological disorder
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