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[Friedreich ataxia with GAA repeat expansion: molecular mechanism and clinical feature].
Nihon Rinsho. 1999 Apr; 57(4):960-6.NR

Abstract

Friedreich ataxia(FRDA) is an autosomal recessive, degenerative disease that involves central and peripheral nervous system and the heart. FRDA mutation has recently been identified as an unstable GAA repeat expansion in the first intron of frataxin gene on chromosome 9q13-21.1. The length of FRDA alleles ranged from 120 to 1,700 repeat units. A few FRDA patients were found to have point mutation in frataxin, but the majority were homozygous for an unstable GAA expansion. The GAA expansion was unstable during transmission, and meiotic instability showed a sex bias(paternally transmitted alleles tend to decrease). Some patients of atypical FRDA can carry the GAA expansion. The clinical spectrum of FRDA is broader than previously recognized.

Authors+Show Affiliations

Department of Neurology, Shinrakuen Hospital.

Pub Type(s)

English Abstract
Journal Article
Review

Language

jpn

PubMed ID

10222797

Citation

Tanaka, H. "[Friedreich Ataxia With GAA Repeat Expansion: Molecular Mechanism and Clinical Feature]." Nihon Rinsho. Japanese Journal of Clinical Medicine, vol. 57, no. 4, 1999, pp. 960-6.
Tanaka H. [Friedreich ataxia with GAA repeat expansion: molecular mechanism and clinical feature]. Nihon Rinsho. 1999;57(4):960-6.
Tanaka, H. (1999). [Friedreich ataxia with GAA repeat expansion: molecular mechanism and clinical feature]. Nihon Rinsho. Japanese Journal of Clinical Medicine, 57(4), 960-6.
Tanaka H. [Friedreich Ataxia With GAA Repeat Expansion: Molecular Mechanism and Clinical Feature]. Nihon Rinsho. 1999;57(4):960-6. PubMed PMID: 10222797.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Friedreich ataxia with GAA repeat expansion: molecular mechanism and clinical feature]. A1 - Tanaka,H, PY - 1999/5/1/pubmed PY - 1999/5/1/medline PY - 1999/5/1/entrez SP - 960 EP - 6 JF - Nihon rinsho. Japanese journal of clinical medicine JO - Nihon Rinsho VL - 57 IS - 4 N2 - Friedreich ataxia(FRDA) is an autosomal recessive, degenerative disease that involves central and peripheral nervous system and the heart. FRDA mutation has recently been identified as an unstable GAA repeat expansion in the first intron of frataxin gene on chromosome 9q13-21.1. The length of FRDA alleles ranged from 120 to 1,700 repeat units. A few FRDA patients were found to have point mutation in frataxin, but the majority were homozygous for an unstable GAA expansion. The GAA expansion was unstable during transmission, and meiotic instability showed a sex bias(paternally transmitted alleles tend to decrease). Some patients of atypical FRDA can carry the GAA expansion. The clinical spectrum of FRDA is broader than previously recognized. SN - 0047-1852 UR - https://www.unboundmedicine.com/medline/citation/10222797/[Friedreich_ataxia_with_GAA_repeat_expansion:_molecular_mechanism_and_clinical_feature]_ L2 - http://www.diseaseinfosearch.org/result/2931 DB - PRIME DP - Unbound Medicine ER -