Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study

Background 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 th...

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Veröffentlicht in:European journal of neurology 2025-01, Vol.32 (1), p.e70011-n/a
Hauptverfasser: Lischewski, Stella Andrea, Konrad, Kerstin, Dogan, Imis, Didszun, Claire, Costa, Ana Sofia, Schawohl, Sara Annabelle, Giunti, Paola, Parkinson, Michael H., Mariotti, Caterina, Nanetti, Lorenzo, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rivera Garrido, Francisco Javier Rodríguez, Schöls, Ludger, Fleszar, Zofia, Klockgether, Thomas, Grobe‐Einsler, Marcus, Giordano, Ilaria, Rai, Myriam, Pandolfo, Massimo, Schulz, Jörg B., Reetz, Kathrin, Indelicato, Elisabetta, Ampros, Matthias, Gellera, Cinzia, Mongelli, Alessia, Castaldo, Anna, Fichera, Mario, Bertini, Enrico, Vasco, Gessica, Biet, Marie, Monin, Marie Lorraine, Holtbernd, Florian, Brcina, Nikolina, Hohenfeld, Christian, Radelfahr, Florentine, Bischoff, Almut T., Hayer, Stefanie N, Koutsis, Georgios, Breza, Marianthi, Palau, Francesc, O’Callaghan, Mar, Thomas‐Black, Gilbert, Manso, Katarina, Solanky, Nita, Labrum, Robyn
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container_title European journal of neurology
container_volume 32
creator Lischewski, Stella Andrea
Konrad, Kerstin
Dogan, Imis
Didszun, Claire
Costa, Ana Sofia
Schawohl, Sara Annabelle
Giunti, Paola
Parkinson, Michael H.
Mariotti, Caterina
Nanetti, Lorenzo
Durr, Alexandra
Ewenczyk, Claire
Boesch, Sylvia
Nachbauer, Wolfgang
Klopstock, Thomas
Stendel, Claudia
Rivera Garrido, Francisco Javier Rodríguez
Schöls, Ludger
Fleszar, Zofia
Klockgether, Thomas
Grobe‐Einsler, Marcus
Giordano, Ilaria
Rai, Myriam
Pandolfo, Massimo
Schulz, Jörg B.
Reetz, Kathrin
Indelicato, Elisabetta
Ampros, Matthias
Gellera, Cinzia
Mongelli, Alessia
Castaldo, Anna
Fichera, Mario
Bertini, Enrico
Vasco, Gessica
Biet, Marie
Monin, Marie Lorraine
Holtbernd, Florian
Brcina, Nikolina
Hohenfeld, Christian
Radelfahr, Florentine
Bischoff, Almut T.
Hayer, Stefanie N
Koutsis, Georgios
Breza, Marianthi
Palau, Francesc
O’Callaghan, Mar
Thomas‐Black, Gilbert
Manso, Katarina
Solanky, Nita
Labrum, Robyn
description Background 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. Methods 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. Results 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. Conclusion 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.
doi_str_mv 10.1111/ene.70011
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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. Methods 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. Results 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. Conclusion 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.</description><identifier>ISSN: 1351-5101</identifier><identifier>ISSN: 1468-1331</identifier><identifier>EISSN: 1468-1331</identifier><identifier>DOI: 10.1111/ene.70011</identifier><identifier>PMID: 39797559</identifier><language>eng</language><publisher>England: John Wiley and Sons Inc</publisher><subject>Adolescent ; Adult ; Anthropometry ; body height ; Body Mass Index ; Child ; Disease Progression ; Female ; Friedreich ataxia ; Friedreich Ataxia - complications ; Friedreich Ataxia - epidemiology ; Friedreich Ataxia - physiopathology ; Humans ; Longitudinal Studies ; Male ; Middle Aged ; natural history ; Original ; Overweight - complications ; Overweight - epidemiology ; Thinness - epidemiology ; underweight ; Young Adult</subject><ispartof>European journal of neurology, 2025-01, Vol.32 (1), p.e70011-n/a</ispartof><rights>2025 The Author(s). published by John Wiley &amp; Sons Ltd on behalf of European Academy of Neurology.</rights><rights>2025 The Author(s). 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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. Methods 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. Results 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. Conclusion 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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Anthropometry</subject><subject>body height</subject><subject>Body Mass Index</subject><subject>Child</subject><subject>Disease Progression</subject><subject>Female</subject><subject>Friedreich ataxia</subject><subject>Friedreich Ataxia - complications</subject><subject>Friedreich Ataxia - epidemiology</subject><subject>Friedreich Ataxia - physiopathology</subject><subject>Humans</subject><subject>Longitudinal Studies</subject><subject>Male</subject><subject>Middle Aged</subject><subject>natural history</subject><subject>Original</subject><subject>Overweight - complications</subject><subject>Overweight - epidemiology</subject><subject>Thinness - epidemiology</subject><subject>underweight</subject><subject>Young 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Boesch, Sylvia ; Nachbauer, Wolfgang ; Klopstock, Thomas ; Stendel, Claudia ; Rivera Garrido, Francisco Javier Rodríguez ; Schöls, Ludger ; Fleszar, Zofia ; Klockgether, Thomas ; Grobe‐Einsler, Marcus ; Giordano, Ilaria ; Rai, Myriam ; Pandolfo, Massimo ; Schulz, Jörg B. ; Reetz, Kathrin ; Indelicato, Elisabetta ; Ampros, Matthias ; Gellera, Cinzia ; Mongelli, Alessia ; Castaldo, Anna ; Fichera, Mario ; Bertini, Enrico ; Vasco, Gessica ; Biet, Marie ; Monin, Marie Lorraine ; Holtbernd, Florian ; Brcina, Nikolina ; Hohenfeld, Christian ; Radelfahr, Florentine ; Bischoff, Almut T. ; Hayer, Stefanie N ; Koutsis, Georgios ; Breza, Marianthi ; Palau, Francesc ; O’Callaghan, Mar ; Thomas‐Black, Gilbert ; Manso, Katarina ; Solanky, Nita ; Labrum, 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Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lischewski, Stella Andrea</creatorcontrib><creatorcontrib>Konrad, Kerstin</creatorcontrib><creatorcontrib>Dogan, Imis</creatorcontrib><creatorcontrib>Didszun, Claire</creatorcontrib><creatorcontrib>Costa, Ana Sofia</creatorcontrib><creatorcontrib>Schawohl, Sara Annabelle</creatorcontrib><creatorcontrib>Giunti, Paola</creatorcontrib><creatorcontrib>Parkinson, Michael H.</creatorcontrib><creatorcontrib>Mariotti, Caterina</creatorcontrib><creatorcontrib>Nanetti, Lorenzo</creatorcontrib><creatorcontrib>Durr, Alexandra</creatorcontrib><creatorcontrib>Ewenczyk, Claire</creatorcontrib><creatorcontrib>Boesch, Sylvia</creatorcontrib><creatorcontrib>Nachbauer, Wolfgang</creatorcontrib><creatorcontrib>Klopstock, Thomas</creatorcontrib><creatorcontrib>Stendel, Claudia</creatorcontrib><creatorcontrib>Rivera Garrido, Francisco Javier Rodríguez</creatorcontrib><creatorcontrib>Schöls, Ludger</creatorcontrib><creatorcontrib>Fleszar, Zofia</creatorcontrib><creatorcontrib>Klockgether, Thomas</creatorcontrib><creatorcontrib>Grobe‐Einsler, Marcus</creatorcontrib><creatorcontrib>Giordano, Ilaria</creatorcontrib><creatorcontrib>Rai, Myriam</creatorcontrib><creatorcontrib>Pandolfo, Massimo</creatorcontrib><creatorcontrib>Schulz, Jörg B.</creatorcontrib><creatorcontrib>Reetz, Kathrin</creatorcontrib><creatorcontrib>Indelicato, Elisabetta</creatorcontrib><creatorcontrib>Ampros, Matthias</creatorcontrib><creatorcontrib>Gellera, Cinzia</creatorcontrib><creatorcontrib>Mongelli, Alessia</creatorcontrib><creatorcontrib>Castaldo, Anna</creatorcontrib><creatorcontrib>Fichera, Mario</creatorcontrib><creatorcontrib>Bertini, Enrico</creatorcontrib><creatorcontrib>Vasco, Gessica</creatorcontrib><creatorcontrib>Biet, Marie</creatorcontrib><creatorcontrib>Monin, Marie Lorraine</creatorcontrib><creatorcontrib>Holtbernd, Florian</creatorcontrib><creatorcontrib>Brcina, Nikolina</creatorcontrib><creatorcontrib>Hohenfeld, Christian</creatorcontrib><creatorcontrib>Radelfahr, Florentine</creatorcontrib><creatorcontrib>Bischoff, Almut T.</creatorcontrib><creatorcontrib>Hayer, Stefanie N</creatorcontrib><creatorcontrib>Koutsis, Georgios</creatorcontrib><creatorcontrib>Breza, Marianthi</creatorcontrib><creatorcontrib>Palau, Francesc</creatorcontrib><creatorcontrib>O’Callaghan, Mar</creatorcontrib><creatorcontrib>Thomas‐Black, Gilbert</creatorcontrib><creatorcontrib>Manso, Katarina</creatorcontrib><creatorcontrib>Solanky, Nita</creatorcontrib><creatorcontrib>Labrum, Robyn</creatorcontrib><creatorcontrib>EFACTS study group</creatorcontrib><creatorcontrib>the EFACTS study group</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>European journal of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lischewski, Stella Andrea</au><au>Konrad, Kerstin</au><au>Dogan, Imis</au><au>Didszun, Claire</au><au>Costa, Ana Sofia</au><au>Schawohl, Sara Annabelle</au><au>Giunti, Paola</au><au>Parkinson, Michael H.</au><au>Mariotti, Caterina</au><au>Nanetti, Lorenzo</au><au>Durr, Alexandra</au><au>Ewenczyk, Claire</au><au>Boesch, Sylvia</au><au>Nachbauer, Wolfgang</au><au>Klopstock, Thomas</au><au>Stendel, Claudia</au><au>Rivera Garrido, Francisco Javier Rodríguez</au><au>Schöls, Ludger</au><au>Fleszar, Zofia</au><au>Klockgether, Thomas</au><au>Grobe‐Einsler, Marcus</au><au>Giordano, Ilaria</au><au>Rai, Myriam</au><au>Pandolfo, Massimo</au><au>Schulz, Jörg B.</au><au>Reetz, Kathrin</au><au>Indelicato, Elisabetta</au><au>Ampros, Matthias</au><au>Gellera, Cinzia</au><au>Mongelli, Alessia</au><au>Castaldo, Anna</au><au>Fichera, Mario</au><au>Bertini, Enrico</au><au>Vasco, Gessica</au><au>Biet, Marie</au><au>Monin, Marie Lorraine</au><au>Holtbernd, Florian</au><au>Brcina, Nikolina</au><au>Hohenfeld, Christian</au><au>Radelfahr, Florentine</au><au>Bischoff, Almut T.</au><au>Hayer, Stefanie N</au><au>Koutsis, Georgios</au><au>Breza, Marianthi</au><au>Palau, Francesc</au><au>O’Callaghan, Mar</au><au>Thomas‐Black, Gilbert</au><au>Manso, Katarina</au><au>Solanky, Nita</au><au>Labrum, Robyn</au><aucorp>EFACTS study group</aucorp><aucorp>the EFACTS study group</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study</atitle><jtitle>European journal of neurology</jtitle><addtitle>Eur J Neurol</addtitle><date>2025-01</date><risdate>2025</risdate><volume>32</volume><issue>1</issue><spage>e70011</spage><epage>n/a</epage><pages>e70011-n/a</pages><issn>1351-5101</issn><issn>1468-1331</issn><eissn>1468-1331</eissn><abstract>Background 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. Methods 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. Results 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. Conclusion 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.</abstract><cop>England</cop><pub>John Wiley and Sons Inc</pub><pmid>39797559</pmid><doi>10.1111/ene.70011</doi><tpages>12</tpages><orcidid>https://orcid.org/0000-0003-3508-4788</orcidid><orcidid>https://orcid.org/0000-0003-1165-9153</orcidid><orcidid>https://orcid.org/0000-0002-9730-9228</orcidid><orcidid>https://orcid.org/0000-0002-1808-2134</orcidid><orcidid>https://orcid.org/0000-0003-2805-4652</orcidid><orcidid>https://orcid.org/0000-0003-2405-3564</orcidid><oa>free_for_read</oa></addata></record>
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identifier ISSN: 1351-5101
ispartof European journal of neurology, 2025-01, Vol.32 (1), p.e70011-n/a
issn 1351-5101
1468-1331
1468-1331
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11724196
source MEDLINE; Wiley Online Library Open Access; Wiley Online Library Journals Frontfile Complete; PubMed Central
subjects Adolescent
Adult
Anthropometry
body height
Body Mass Index
Child
Disease Progression
Female
Friedreich ataxia
Friedreich Ataxia - complications
Friedreich Ataxia - epidemiology
Friedreich Ataxia - physiopathology
Humans
Longitudinal Studies
Male
Middle Aged
natural history
Original
Overweight - complications
Overweight - epidemiology
Thinness - epidemiology
underweight
Young Adult
title Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study
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