TY  - JOUR
AU  - Lischewski, Stella Andrea
AU  - Konrad, Kerstin
AU  - Dogan, Imis
AU  - Didszun, Claire
AU  - Costa, Ana Sofia
AU  - Schawohl, Sara Annabelle
AU  - Giunti, Paola
AU  - Parkinson, Michael H
AU  - Mariotti, Caterina
AU  - Nanetti, Lorenzo
AU  - Durr, Alexandra
AU  - Ewenczyk, Claire
AU  - Boesch, Sylvia
AU  - Nachbauer, Wolfgang
AU  - Klopstock, Thomas
AU  - Stendel, Claudia
AU  - de Rivera Garrido, Francisco Javier Rodríguez
AU  - Schöls, Ludger
AU  - Fleszar, Zofia
AU  - Klockgether, Thomas
AU  - Grobe-Einsler, Marcus
AU  - Giordano, Ilaria
AU  - Rai, Myriam
AU  - Pandolfo, Massimo
AU  - Schulz, Jörg B
AU  - Reetz, Kathrin
TI  - Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
JO  - European journal of neurology
VL  - 32
IS  - 1
SN  - 1351-5101
CY  - Oxford [u.a.]
PB  - Wiley-Blackwell
M1  - DZNE-2025-00122
SP  - e70011
PY  - 2025
AB  - 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
KW  - Humans
KW  - Friedreich Ataxia: epidemiology
KW  - Friedreich Ataxia: complications
KW  - Friedreich Ataxia: physiopathology
KW  - Male
KW  - Female
KW  - Longitudinal Studies
KW  - Adult
KW  - Child
KW  - Adolescent
KW  - Disease Progression
KW  - Body Mass Index
KW  - Young Adult
KW  - Thinness: epidemiology
KW  - Middle Aged
KW  - Anthropometry
KW  - Overweight: epidemiology
KW  - Overweight: complications
KW  - Friedreich ataxia (Other)
KW  - body height (Other)
KW  - body mass index (Other)
KW  - natural history (Other)
KW  - underweight (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:39797559
C2  - pmc:PMC11724196
DO  - DOI:10.1111/ene.70011
UR  - https://pub.dzne.de/record/275887
ER  -