Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population

Journal of the Neurological Sciences
Junsheng ZengBei-sha Tang

Abstract

Friedreich's Ataxia (FRDA) is a very common cause of hereditary autosomal recessive ataxia among western Europeans. We aim to define the frequency of FRDA in Chinese Han population due to the lack of reports of FRDA in China. The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-primed PCR (TP-PCR) in 122 unrelated hereditary ataxia (HA) and 114 unrelated hereditary spastic paraplegia (HSP) patients. The GAA copy numbers in the FXN gene of all the subjects ranged from 5 to 16. There were no FRDA patients that could be diagnosed base on the results of TP-PCR. It suggests that FRDA is a very rare cause of inheritance ataxia and FRDA genetic analysis should not be used as a routine genetic diagnosis test in China.

References

Sep 6, 1996·American Journal of Medical Genetics·A RichterS B Melançon
Dec 1, 1996·Journal of Medical Genetics·J P WarnerD J Brock
Apr 21, 2004·The Journal of Molecular Diagnostics : JMD·Claudia CagnoliAlfredo Brusco
Oct 28, 2004·The Journal of Molecular Diagnostics : JMD·Paola CiottiPaola Mandich
Aug 19, 2007·Neurogenetics·Cinzia GelleraFranco Taroni
Mar 14, 2012·Archives of Neurology·Mathieu AnheimMichel Koenig
Sep 21, 2012·Journal of Human Genetics·Takayuki IshigeFumio Nomura

❮ Previous
Next ❯

Citations

Jun 26, 2018·The Cerebellum·Helena FussigerLaura Bannach Jardim

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.