ArticleNeurology. Genetics2021
Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study.
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In one paragraph
Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.8field-weighted citation impact, top 27% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Neuropathology of Friedreich ataxia and its links to metabolic pathways.Neurodegenerative disease management · 2026Review
- Serial assessment of echocardiographic measures in Friedreich ataxia.American heart journal plus : cardiology research and practice · 2026Article
- Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- A global perspective on research advances and future challenges in Friedreich ataxia.Nature reviews. Neurology · 2025Review
- Insulin Sensitivity and Insulin Secretion in Adults With Friedreich's Ataxia: The Role of Skeletal Muscle.The Journal of clinical endocrinology and metabolism · 2025Observational
- Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.European journal of neurology · 2025Article
- Body size and intracranial volume interact with the structure of the central nervous system: A multi-center in vivo neuroimaging study.Imaging neuroscience (Cambridge, Mass.) · 2025Article
- Nephrocalcinosis and kidney function in children and adults with X-linked hypophosphatemia: baseline results from a large longitudinal study.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Butyrate prevents visceral adipose tissue inflammation and metabolic alterations in a Friedreich's ataxia mouse model.iScience · 2023Article
- Friedreich's Ataxia related Diabetes: Epidemiology and management practices.Diabetes research and clinical practice · 2022Article
- Body Mass Index and Height in Friedreich Ataxia: What Do We Know?Neurology. Genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 1 institution in 1 country.
Maya PatelDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.ORCID 0000-0001-5539-309X
Ashley McCormickDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Jaclyn TamaroffDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.ORCID 0000-0002-3630-9937
Julia DunnDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Jonathan A MitchellDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Kimberly Y LinDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Jennifer FarmerDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Christian RummeyDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Susan L PerlmanDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Martin B DelatyckiDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
George R WilmotDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Katherine D MathewsDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Grace YoonDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Joseph HoyleDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Manuela CortiDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
S H SubramonyDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Theresa ZesiewiczDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
David LynchDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Shana E McCormackDivision of Neurology (M.P., A.M.C., J.F., D.L.), Children's Hospital of Philadelphia; Department of Neurology (M.P., A.M.C., D.L.), Perelman School of Medicine at the University of Pennsylvania; Division of Endocrinology and Diabetes (J.T., J.D., S.E.M.), Children's Hospital of Philadelphia; Department of Pediatrics (J.A.M, K.Y.L., S.E.M.), Perelman School of Medicine at the University of Pennsylvania; Division of Gastroenterology (J.A.M.), Hepatology and Nutrition, Children's Hospital of Philadelphia; Division of Cardiology (K.Y.L), Children's Hospital of Philadelphia; Friedreich's Ataxia Research Alliance (J.F.); Clinical Data Science GmbH (C.R.), Basel, Switzerland; Department of Neurology (S.L.P), University of California Los Angeles; Murdoch Children's Research Institute (M.B.D.), Victoria, Australia; Department of Neurology (G.R.W), Emory University School of Medicine, Atlanta, Georgia; Department of Pediatrics (K.D.M.), University of Iowa Carver College of Medicine, Iowa; Divisions of Neurology (G.Y.) and Clinical and Metabolic Genetics, Department of Paediatrics, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Neurology (J.H.), Ohio State University College of Medicine, Columbus, Ohio; Department of Neurology (M.C., S.H.S.), University of Florida, College of Medicine, Gainesville, Florida; Department of Neurology (T.Z.), University of South Florida, Tampa, Florida.
Children's Hospital of Philadelphia · US
Funding
NAD+ precursor supplementation with exercise training to improve aerobic capacity in Friedreich's AtaxiaR01HL149722 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI MCCORMACK, SHANA ERIN · 2020 to 2024
$4.0MIntensive tailored exercise training with NAD+ precursor supplementation to improve muscle mass and fitness in adolescent and young adult survivors of hematopoietic stem cell transplantationR01CA254955 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI MCCORMACK, SHANA ERIN, MOSTOUFI-MOAB, SOGOL · 2021 to 2025
$3.5MNCI NIH HHS R01 CA254955NHLBI NIH HHS R01 HL149722
Abstract
BACKGROUND AND
objectivesBody mass index (BMI) and height are important indices of health. We tested the association between these outcomes and clinical characteristics in Friedreich ataxia (FRDA), a progressive neuromuscular disorder.
methodsParticipants (N = 961) were enrolled in a prospective natural history study (Friedreich Ataxia Clinical Outcome Measure Study). Age- and sex-specific BMI and height Z-scores were calculated using CDC 2000 references for participants younger than 18 years. For adults aged 18 years or older, height Z-scores were also calculated, and absolute BMI was reported. Univariate and multivariate linear regression analyses tested the associations between exposures, covariates, and BMI or height measured at the baseline visit. In children, the superimposition by translation and rotation analysis method was used to compare linear growth trajectories between FRDA and a healthy reference cohort, the Bone Mineral Density in Childhood Study (n = 1,535 used for analysis).
resultsMedian age at the baseline was 20 years (IQR, 13-33 years); 49% (n = 475) were women. A substantial proportion of children (17%) were underweight (BMI-Z < fifth percentile), and female sex was associated with lower BMI-Z (β = -0.34, DISCUSSION: FRDA affects both weight gain and linear growth. These insights will inform assessments of affected individuals in both research and clinical settings.
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