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000275887 1001_ $$00000-0003-1165-9153$$aLischewski, Stella Andrea$$b0
000275887 245__ $$aLongitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
000275887 260__ $$aOxford [u.a.]$$bWiley-Blackwell$$c2025
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000275887 520__ $$aFriedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.Participants were drawn from the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Age- and sex-specific BMI and height scores were calculated using the KIGGS-BMI percentiles for children. Height correction was applied for scoliosis. Longitudinal data were analysed using linear mixed effects models and incremental standard deviation scores and growth mixture models identified subclasses with varying BMI trajectories.Five hundred and forty-three adults and fifty-nine children were assessed for up to 5 years. In children, severe underweight (26%), underweight (7%), severe short stature (16%) and short stature (23%) were common. The corrected BMI percentile was stable in children, although 48% had negative incremental BMI scores over 1 year and 63% over 3 years versus 10%/year in a normal reference cohort. Overweight was common in adults (19%), with a slight increase in BMI over time. Longer GAA repeat size was linked to lower BMI in adults. Weight trajectory was not associated with ataxia progression in adults.Significant anthropometric abnormalities were identified, with underweight and short stature prevalent in children and overweight in adults. These findings highlight the need for regular nutritional monitoring and interventions to manage underweight in children and promote healthy weight in adults.
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000275887 650_7 $$2Other$$aFriedreich ataxia
000275887 650_7 $$2Other$$abody height
000275887 650_7 $$2Other$$abody mass index
000275887 650_7 $$2Other$$anatural history
000275887 650_7 $$2Other$$aunderweight
000275887 650_2 $$2MeSH$$aHumans
000275887 650_2 $$2MeSH$$aFriedreich Ataxia: epidemiology
000275887 650_2 $$2MeSH$$aFriedreich Ataxia: complications
000275887 650_2 $$2MeSH$$aFriedreich Ataxia: physiopathology
000275887 650_2 $$2MeSH$$aMale
000275887 650_2 $$2MeSH$$aFemale
000275887 650_2 $$2MeSH$$aLongitudinal Studies
000275887 650_2 $$2MeSH$$aAdult
000275887 650_2 $$2MeSH$$aChild
000275887 650_2 $$2MeSH$$aAdolescent
000275887 650_2 $$2MeSH$$aDisease Progression
000275887 650_2 $$2MeSH$$aBody Mass Index
000275887 650_2 $$2MeSH$$aYoung Adult
000275887 650_2 $$2MeSH$$aThinness: epidemiology
000275887 650_2 $$2MeSH$$aMiddle Aged
000275887 650_2 $$2MeSH$$aAnthropometry
000275887 650_2 $$2MeSH$$aOverweight: epidemiology
000275887 650_2 $$2MeSH$$aOverweight: complications
000275887 7001_ $$aKonrad, Kerstin$$b1
000275887 7001_ $$aDogan, Imis$$b2
000275887 7001_ $$aDidszun, Claire$$b3
000275887 7001_ $$aCosta, Ana Sofia$$b4
000275887 7001_ $$aSchawohl, Sara Annabelle$$b5
000275887 7001_ $$00000-0003-3508-4788$$aGiunti, Paola$$b6
000275887 7001_ $$aParkinson, Michael H$$b7
000275887 7001_ $$00000-0003-2405-3564$$aMariotti, Caterina$$b8
000275887 7001_ $$aNanetti, Lorenzo$$b9
000275887 7001_ $$aDurr, Alexandra$$b10
000275887 7001_ $$aEwenczyk, Claire$$b11
000275887 7001_ $$aBoesch, Sylvia$$b12
000275887 7001_ $$aNachbauer, Wolfgang$$b13
000275887 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b14
000275887 7001_ $$0P:(DE-2719)2812141$$aStendel, Claudia$$b15$$udzne
000275887 7001_ $$0P:(DE-HGF)0$$ade Rivera Garrido, Francisco Javier Rodríguez$$b16
000275887 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b17$$udzne
000275887 7001_ $$0P:(DE-2719)9000074$$aFleszar, Zofia$$b18$$udzne
000275887 7001_ $$0P:(DE-2719)2810314$$aKlockgether, Thomas$$b19$$udzne
000275887 7001_ $$0P:(DE-2719)9001510$$aGrobe-Einsler, Marcus$$b20
000275887 7001_ $$0P:(DE-2719)2811662$$aGiordano, Ilaria$$b21$$udzne
000275887 7001_ $$aRai, Myriam$$b22
000275887 7001_ $$aPandolfo, Massimo$$b23
000275887 7001_ $$aSchulz, Jörg B$$b24
000275887 7001_ $$00000-0002-9730-9228$$aReetz, Kathrin$$b25
000275887 7001_ $$agroup, EFACTS study$$b26$$eCollaboration Author
000275887 7001_ $$aIndelicato, Elisabetta$$b27$$eContributor
000275887 7001_ $$aAmpros, Matthias$$b28$$eContributor
000275887 7001_ $$aGellera, Cinzia$$b29$$eContributor
000275887 7001_ $$aMongelli, Alessia$$b30$$eContributor
000275887 7001_ $$aCastaldo, Anna$$b31$$eContributor
000275887 7001_ $$aFichera, Mario$$b32$$eContributor
000275887 7001_ $$aBertini, Enrico$$b33$$eContributor
000275887 7001_ $$aVasco, Gessica$$b34$$eContributor
000275887 7001_ $$aBiet, Marie$$b35$$eContributor
000275887 7001_ $$aMonin, Marie Lorraine$$b36$$eContributor
000275887 7001_ $$aHoltbernd, Florian$$b37$$eContributor
000275887 7001_ $$aBrcina, Nikolina$$b38$$eContributor
000275887 7001_ $$aHohenfeld, Christian$$b39$$eContributor
000275887 7001_ $$aRadelfahr, Florentine$$b40$$eContributor
000275887 7001_ $$aBischoff, Almut T$$b41$$eContributor
000275887 7001_ $$aHayer, Stefanie N$$b42$$eContributor
000275887 7001_ $$aKoutsis, Georgios$$b43$$eContributor
000275887 7001_ $$aBreza, Marianthi$$b44$$eContributor
000275887 7001_ $$aPalau, Francesc$$b45$$eContributor
000275887 7001_ $$aO'Callaghan, Mar$$b46$$eContributor
000275887 7001_ $$aThomas-Black, Gilbert$$b47$$eContributor
000275887 7001_ $$aManso, Katarina$$b48$$eContributor
000275887 7001_ $$aSolanky, Nita$$b49$$eContributor
000275887 7001_ $$aLabrum, Robyn$$b50$$eContributor
000275887 773__ $$0PERI:(DE-600)2020241-6$$a10.1111/ene.70011$$gVol. 32, no. 1, p. e70011$$n1$$pe70011$$tEuropean journal of neurology$$v32$$x1351-5101$$y2025
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