Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
Siân D SpaceyTerrance P Snutch

Abstract

Friedrich ataxia (FRDA1) is most often the result of a homozygous GAA repeat expansion in the first intron of the frataxin gene (FRDA gene). This condition is seen in individuals of European, North African, Middle Eastern and Indian descent and has not been reported in Southeast Asian populations. Approximately 4% of FRDA1 patients are compound heterozygotes. These patients have a GAA expansion on one allele and a point mutation on the other and have been reported to have an atypical phenotype. To describe a novel dinucleotide deletion in the FRDA gene in two Malaysian siblings with FRDA1. Tertiary referral university hospital setting. A previously healthy 10-year-old Malaysian boy, presented with fever, lethargy, headaches, dysarthria, dysphagia, vertigo and ataxia which developed over a one week period. His neurological exam revealed evidence of dysarthria and ataxia, mild generalized weakness and choreoform movements of the tongue and hands. His reflexes were absent and Babinski sign was present bilaterally. A nine-year-old sister was found to have mild ataxia but was otherwise neurologically intact. Molecular genetic studies demonstrated that both siblings were compound heterozygotes with a GAA expansion on one allele and a...Continue Reading

References

Jul 21, 1988·Nature·S ChamberlainR Williamson
Oct 17, 1996·The New England Journal of Medicine·A DürrM Koenig
Jan 7, 1998·Journal of Neurology, Neurosurgery, and Psychiatry·M W KellettT P Enevoldson
Apr 16, 1998·Movement Disorders : Official Journal of the Movement Disorder Society·M G HannaC D Marsden
Apr 15, 2000·Journal of Neurology, Neurosurgery, and Psychiatry·M L McCormackD R Lynch
Feb 15, 2002·Archives of Neurology·Dominick J H McCabeRaymond P Murphy

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Citations

Apr 6, 2011·Current Neurology and Neuroscience Reports·Ruth H Walker
Aug 19, 2007·Neurogenetics·Cinzia GelleraFranco Taroni
Aug 21, 2009·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Josef Finsterer
Oct 17, 2009·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Josef Finsterer
Dec 26, 2015·Annals of Neurology·Charles A GaleaMarguerite V Evans-Galea
Feb 17, 2010·Antioxidants & Redox Signaling·Renata SantosEmmanuel Lesuisse
Sep 1, 2006·Acta Neurologica Scandinavica·J Finsterer
Jan 30, 2008·Biotechnology Journal·Leonor Miller-FlemingTiago F Outeiro
Aug 10, 2017·Journal of Neuropathology and Experimental Neurology·Alyssa B BeckerArnulf H Koeppen
Aug 11, 2020·Journal of Neural Transmission·José Fidel Baizabal-Carvallo, Francisco Cardoso
May 7, 2020·Movement Disorders Clinical Practice·Simone Gana, Enza Maria Valente
Oct 9, 2020·The Journal of Biological Chemistry·Gabriela Vilema-EnríquezRichard Wade-Martins
Jan 18, 2021·The Journal of Biological Chemistry·Gabriela Vilema-EnríquezRichard Wade-Martins

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