Impact of diabetes in the Friedreich ataxia clinical outcome measures study

McCormick, Ashley; Farmer, Jennifer M.; Perlman, Susan; Delatycki, Martin B.; Wilmot, George; Matthews, Katherine; Yoon, Grace; Hoyle, Chad; Subramony, S. H.; Zesiewicz, Theresa A.; Lynch, David R.; McCormack, Shana E.

doi:10.1002/acn3.439

Cited by 20 publications

(14 citation statements)

References 38 publications

(56 reference statements)

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“…19 However, this is mainly in line with a recent published work about the relevance of diabetes in FRDA in an American cohort presenting 9% of adults and 3% of children with diabetes. 46 Of note, the only predictor for the presence of diabetes in patients with FRDA was higher SARA scores. Thus, we failed to confirm previous work showing associations between diabetes and the size of GAA trinucleotide expansion in the FRDA gene, 21,47 longer disease duration, and a younger age at onset.…”

Section: Discussionmentioning

confidence: 98%

Nonataxia symptoms in Friedreich Ataxia

et al. 2018

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Section: Discussionmentioning

confidence: 98%

Nonataxia symptoms in Friedreich Ataxia

et al. 2018

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“…FRDA is associated with an increased risk of diabetes mellitus (DM). It has been previously established that DM is independently associated with worse functional status in FRDA [ 32 ], independently of GAA repeat length. In the present study we observed a worse neurological status in FRDA patients with DM, compared to non-diabetic subjects.…”

Section: Discussionmentioning

confidence: 99%

Pre-clinical left ventricular myocardial remodeling in patients with Friedreich’s ataxia: A cardiac MRI study

et al. 2021

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Background Heart Failure (HF) is the most common cause of death in Friedreich’s ataxia (FRDA), an inherited mitochondrial disease. Myocardial fibrosis and myocardial hypertrophy are well-documented autopsy features among FRDA patients with HF. Objectives To leverage the unique tissue characterization features of cardiac magnetic resonance (CMR) for characterizing myocardial remodeling in patients with genetically confirmed FRDA without HF and preserved left ventricular ejection fraction (LVEF > 55%). Methods Twenty-seven FRDA’s patients (age 27.6 ± 9.7 years, 15 women) and 10 healthy controls (32.6±7.3 years, 5 women) underwent a CMR for assessment of LV function, myocardial T1, late gadolinium enhancement (LGE), extracellular volume fraction (ECV), and intracellular water-lifetime (τic), a marker of cardiomyocyte size. Results As compared to controls, FRDA patients had a preserved LVEF (LVEF: 70.5±7.4% vs. 63.9±9.0%, P<0.058), larger LV mass index (LVMASSi: 61±21.7 vs. 45±4.2g/m2, P<0.02), and decreased LV end-diastolic volume index (LVEDVi 53.1±12.0 vs. 75.7±16.1ml/m2, P<0.001), compared with controls. Additionally, ECV and cardiomyocyte size (τic,) were larger in FRDA patients (ECV: 0.36 ±0.05 vs. 0.25±0.02, P<0.001; τic: 0.15±0.08 vs. 0.06±0.03 s, P = 0.02). ECV and τic were positively associated with LV mass-to-volume ratio (ECV: r = 0.57, P = 0.003; τic: r = 0.39; P = 0.05). LVMASSi and cardiomyocyte mass-index [(1−ECV)·LVMASSi] declined with age at the CMR exam, independent of the age at initial diagnosis. Conclusions LV hypertrophy and concentric LV remodeling in FRDA are associated at the tissue level with an expansion of the ECV and an increase in cardiomyocyte size. The adverse tissue remodeling assessed by ECV and τic is associated with more severe cardiomyopathy classification, suggesting a role for these markers in tracking disease progression.

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“… 78 , 80 , 82 Also, a disproportionate share of individuals with later onset FRDA and diabetes will require insulin. 77 …”

Section: Specific Care Aspectsmentioning

confidence: 99%

Friedreich Ataxia: Multidisciplinary Clinical Care

Lynch¹,

Schadt²,

Kichula³

et al. 2021

JMDH

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Friedreich ataxia (FRDA) is a multisystem disorder affecting 1 in 50,000–100,000 person in the United States. Traditionally viewed as a neurodegenerative disease, FRDA patients also develop cardiomyopathy, scoliosis, diabetes and other manifestation. Although it usually presents in childhood, it continues throughout life, thus requiring expertise from both pediatric and adult subspecialist in order to provide optimal management. The phenotype of FRDA is unique, giving rise to specific loss of neuronal pathways, a unique form of cardiomyopathy with early hypertrophy and later fibrosis, and diabetes incorporating components of both type I and type II disease. Vision loss, hearing loss, urinary dysfunction and depression also occur in FRDA. Many agents are reaching Phase III trials; if successful, these will provide a variety of new treatments for FRDA that will require many specialists who are not familiar with FRDA to provide clinical therapy. This review provides a summary of the diverse manifestation of FRDA, existing symptomatic therapies, and approaches for integrative care for future therapy in FRDA.

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Impact of diabetes in the Friedreich ataxia clinical outcome measures study

Cited by 20 publications

References 38 publications

Nonataxia symptoms in Friedreich Ataxia

Nonataxia symptoms in Friedreich Ataxia

Pre-clinical left ventricular myocardial remodeling in patients with Friedreich’s ataxia: A cardiac MRI study

Friedreich Ataxia: Multidisciplinary Clinical Care

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