Journal article
Impact of diabetes in the Friedreich ataxia clinical outcome measures study
Annals of clinical and translational neurology, Vol.4(9), pp.622-631
09/2017
DOI: 10.1002/acn3.439
PMCID: PMC5590524
PMID: 28904984
Abstract
Friedreich ataxia (FA) is a progressive neuromuscular disorder caused by GAA triplet repeat expansions or point mutations in the
gene. FA is associated with increased risk of diabetes mellitus (DM). This study assessed the age-specific prevalence of FA-associated DM and its impact on neurologic outcomes.
Participants were 811 individuals with FA from 12 international sites in a prospective natural history study (FA Clinical Outcome Measures Study, FACOMS). Physical function was assessed, using validated instruments. Multivariable regression analyses examined the independent association of DM with outcomes.
Mean age of participants was 30.1 years (SD 15.3, range: 7-82), 50% were female, and 94% were non-Hispanic white. 9% (42/459) of adults and 3% (10/352) of children had DM. Individuals with FA-associated DM were older (
< 0.001), had longer GAA repeat length on the least affected
allele (
= 0.037), and more severe FA (
= 0.0001). Of individuals with DM, 65% (34/52) were taking insulin. Even after accounting statistically for both age and GAA repeat length, DM was independently associated with greater FA symptom burden (
= 0.010), reduced capacity to perform activities of daily living (
= 0.021), and a decrease of 0.33 SDs on a composite performance measure (95% CI: -0.56-0.11,
= 0.004); the relative impact of DM was most apparent in younger individuals.
DM-associated FA has an independent adverse impact on well-being in affected individuals, particularly at younger ages. In future, evidence-based approaches for identification and management of FA-related DM may improve both health and function.
Details
- Title: Subtitle
- Impact of diabetes in the Friedreich ataxia clinical outcome measures study
- Creators
- Ashley McCormick - Division of Neurology Children's Hospital of Philadelphia Philadelphia Pennsylvania 19104Jennifer Farmer - Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania 19104Susan Perlman - Department of Neurology University of California Los Angeles Los Angeles California 90095Martin Delatycki - Department of Genetics Murdoch Children's Research Institute Victoria AustraliaGeorge Wilmot - Department of Neurology Emory University School of Medicine Atlanta Georgia 30322Katherine Matthews - Department of Neurology University of Iowa Carver College of Medicine Iowa City Iowa 52242Grace Yoon - Clinical and Metabolic Genetics Hospital for Sick Children Toronto CanadaChad Hoyle - Department of Neurology Ohio State University College of Medicine Columbus Ohio 43210Sub H Subramony - Department of Neurology University of Florida College of Medicine Gainesville Florida 32610Theresa Zesiewicz - Department of Neurology University of South Florida Tampa Florida 33612David R Lynch - Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania 19104Shana E McCormack - Division of Endocrinology and Diabetes Children's Hospital of Philadelphia Philadelphia Pennsylvania 19104
- Resource Type
- Journal article
- Publication Details
- Annals of clinical and translational neurology, Vol.4(9), pp.622-631
- DOI
- 10.1002/acn3.439
- PMID
- 28904984
- PMCID
- PMC5590524
- NLM abbreviation
- Ann Clin Transl Neurol
- ISSN
- 2328-9503
- eISSN
- 2328-9503
- Publisher
- United States
- Grant note
- K23 DK102659 / NIDDK NIH HHS K12 DK094723 / NIDDK NIH HHS
- Language
- English
- Date published
- 09/2017
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984070479602771
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