Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
| Autor: | Tatsuya Takahashi, Tetsuo Sakai, Hideki Nagatomo, Izumi Kawachi, Masatoyo Nishizawa, Osamu Onodera, Kiyoshi Iwabuchi, Yoshiki Sekijima, Kayoko Saito, Hajime Tanaka, Yoshihisa Takiyama, Tatsuhiko Yuasa, Sumio Sugano, Yutaka Awaya, Shuichi Igarashi, Tadashi Hiroi, Shoji Tsuji, Ryoko Koike, Hidetoshi Date, Kazutoshi Uekawa, Nobuyoshi Fukuhara |
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| Rok vydání: | 2001 |
| Předmět: |
Male
Ataxia Apraxias Genetic Linkage Molecular Sequence Data aptX Locus (genetics) Biology Apraxia Genetics medicine Animals Humans Amino Acid Sequence Oculomotor apraxia Phylogeny Serum Albumin Aprataxin Sequence Homology Amino Acid Metabolic disorder Chromosome Mapping Nuclear Proteins medicine.disease Pedigree DNA-Binding Proteins Oculomotor Muscles Mutation Female medicine.symptom Age of onset Chromosomes Human Pair 9 |
| Zdroj: | Nature Genetics. 29:184-188 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng1001-184 |
| Popis: | 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 legs1,2,3,4. We have recently identified a unique group of patients whose clinical presentations are characterized by autosomal recessive inheritance, early age of onset, FRDA-like clinical presentations and hypoalbuminemia. Linkage to the FRDA locus, however, was excluded. Given the similarities of the clinical presentations to those of the recently described ataxia with oculomotor apraxia (AOA) linked to chromosome 9p13, we confirmed that the disorder of our patients is also linked to the same locus5. We narrowed the candidate region and have identified a new gene encoding a member of the histidine triad (HIT) superfamily as the 'causative' gene. We have called its product aprataxin; the gene symbol is APTX. Although many HIT proteins have been identified, aprataxin is the first to be linked to a distinct phenotype. |
| Databáze: | OpenAIRE |
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