%0 Journal Article
%A Lischewski, Stella Andrea
%A Konrad, Kerstin
%A Dogan, Imis
%A Didszun, Claire
%A Costa, Ana Sofia
%A Schawohl, Sara Annabelle
%A Giunti, Paola
%A Parkinson, Michael H
%A Mariotti, Caterina
%A Nanetti, Lorenzo
%A Durr, Alexandra
%A Ewenczyk, Claire
%A Boesch, Sylvia
%A Nachbauer, Wolfgang
%A Klopstock, Thomas
%A Stendel, Claudia
%A de Rivera Garrido, Francisco Javier Rodríguez
%A Schöls, Ludger
%A Fleszar, Zofia
%A Klockgether, Thomas
%A Grobe-Einsler, Marcus
%A Giordano, Ilaria
%A Rai, Myriam
%A Pandolfo, Massimo
%A Schulz, Jörg B
%A Reetz, Kathrin
%T Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
%J European journal of neurology
%V 32
%N 1
%@ 1351-5101
%C Oxford [u.a.]
%I Wiley-Blackwell
%M DZNE-2025-00122
%P e70011
%D 2025
%X Friedreich 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
%K Humans
%K Friedreich Ataxia: epidemiology
%K Friedreich Ataxia: complications
%K Friedreich Ataxia: physiopathology
%K Male
%K Female
%K Longitudinal Studies
%K Adult
%K Child
%K Adolescent
%K Disease Progression
%K Body Mass Index
%K Young Adult
%K Thinness: epidemiology
%K Middle Aged
%K Anthropometry
%K Overweight: epidemiology
%K Overweight: complications
%K Friedreich ataxia (Other)
%K body height (Other)
%K body mass index (Other)
%K natural history (Other)
%K underweight (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39797559
%2 pmc:PMC11724196
%R 10.1111/ene.70011
%U https://pub.dzne.de/record/275887