Determinants of onset age in Friedreich's ataxia

Journal of Neurology
G De MicheleSergio Cocozza

Abstract

We studied the factors that might influence onset age in Friedreich's ataxia in 41 cases (20 male, 21 female) homozygous for GAA expansion on the first intron of X25 gene. Patients came from 18 multiplex families (13 couples, 5 triplets). Mean age (SD) was 18.1 (8.9) years and did not differ by gender. Onset age and the sizes of the smaller (GAA1) and the larger (GAA2) allele in each pair showed high intrafamily correlation. We found an inverse correlation between age at onset and GAA1 size, but not between age at onset and GAA2 size. Stepwise multiple regression of onset age on GAA1 size, sibling onset age, and GAA2 size showed that GAA1 accounts for 73% of onset age variance, and sibling onset age for an additional 13%. The study demonstrates that, in addition to GAA expansion size, other environmental or genetic familial factors influence disease expression.

References

Nov 1, 1976·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·G GeoffroyJ P Bouchard
Dec 1, 1989·Journal of Neurology, Neurosurgery, and Psychiatry·G De MicheleG Campanella
Jul 21, 1988·Nature·S ChamberlainR Williamson
Dec 1, 1981·Clinical Genetics·R M WinterM B Bravery
Aug 1, 1994·Journal of Neurology, Neurosurgery, and Psychiatry·G De MicheleG Campanella
Oct 17, 1996·The New England Journal of Medicine·A DürrM Koenig
Apr 3, 1997·The New England Journal of Medicine·D P Dutka, D J Nunez

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Citations

Feb 23, 2013·Journal of Neurology·Vincent AlvarezThierry Kuntzer
Dec 2, 2008·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Mohammad Mehdi HeidariMehri Khatami
Jul 10, 2003·Lancet Neurology·Alexandra Dürr
Nov 28, 2007·PLoS Computational Biology·Shai KaplanEhud Shapiro
May 17, 2011·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Philip M MottramRoger E Peverill
Dec 5, 2003·Acta Neurologica Scandinavica·I MateoO Combarros
Feb 16, 2020·The Journal of Biological Chemistry·Alexandra N Khristich, Sergei M Mirkin
Apr 19, 2005·Journal of Child Neurology·Meredith R GolombLaurence E Walsh
Sep 2, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Alison La PeanNicholas A Di Prospero
Aug 2, 2002·Journal of Child Neurology·Jacek PilchElzbieta Marszał
Jul 19, 2019·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Joel M Gottesfeld
May 21, 2019·Frontiers in Neuroscience·Sylvia Boesch, Elisabetta Indelicato
Jan 29, 2021·The Journal of Biological Chemistry·Alexandra N Khristich, Sergei M Mirkin

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