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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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 |
format | Article |
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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.</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 & Sons Ltd on behalf of European Academy of Neurology.</rights><rights>2025 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3061-cd4634458e0697c8f9af4493816e5fc58337305b1b2d8a7c54ba039bc46a8f223</cites><orcidid>0000-0003-3508-4788 ; 0000-0003-1165-9153 ; 0000-0002-9730-9228 ; 0000-0002-1808-2134 ; 0000-0003-2805-4652 ; 0000-0003-2405-3564</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11724196/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11724196/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,1411,11541,27901,27902,45550,45551,46027,46451,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39797559$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><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><title>Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study</title><title>European journal of neurology</title><addtitle>Eur J Neurol</addtitle><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.</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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Sofia</creator><creator>Schawohl, Sara Annabelle</creator><creator>Giunti, Paola</creator><creator>Parkinson, Michael H.</creator><creator>Mariotti, Caterina</creator><creator>Nanetti, Lorenzo</creator><creator>Durr, Alexandra</creator><creator>Ewenczyk, Claire</creator><creator>Boesch, Sylvia</creator><creator>Nachbauer, Wolfgang</creator><creator>Klopstock, Thomas</creator><creator>Stendel, Claudia</creator><creator>Rivera Garrido, Francisco Javier Rodríguez</creator><creator>Schöls, Ludger</creator><creator>Fleszar, Zofia</creator><creator>Klockgether, Thomas</creator><creator>Grobe‐Einsler, Marcus</creator><creator>Giordano, Ilaria</creator><creator>Rai, Myriam</creator><creator>Pandolfo, Massimo</creator><creator>Schulz, Jörg B.</creator><creator>Reetz, Kathrin</creator><creator>Indelicato, Elisabetta</creator><creator>Ampros, Matthias</creator><creator>Gellera, Cinzia</creator><creator>Mongelli, Alessia</creator><creator>Castaldo, Anna</creator><creator>Fichera, 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Inc</general><scope>24P</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><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></search><sort><creationdate>202501</creationdate><title>Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3061-cd4634458e0697c8f9af4493816e5fc58337305b1b2d8a7c54ba039bc46a8f223</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2025</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Anthropometry</topic><topic>body height</topic><topic>Body Mass Index</topic><topic>Child</topic><topic>Disease Progression</topic><topic>Female</topic><topic>Friedreich ataxia</topic><topic>Friedreich Ataxia - complications</topic><topic>Friedreich Ataxia - epidemiology</topic><topic>Friedreich Ataxia - physiopathology</topic><topic>Humans</topic><topic>Longitudinal Studies</topic><topic>Male</topic><topic>Middle Aged</topic><topic>natural history</topic><topic>Original</topic><topic>Overweight - complications</topic><topic>Overweight - epidemiology</topic><topic>Thinness - epidemiology</topic><topic>underweight</topic><topic>Young 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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> |
fulltext | fulltext |
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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