Friedreich’s Ataxia: a review from a cardiology perspective

Bourke, Tara; Keane, David

doi:10.1007/s11845-011-0744-y

Cited by 24 publications

(24 citation statements)

References 25 publications

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“…9,10 Friedreich ataxia is the prevalent cause of hereditary ataxia and accounts for about 50% of cases of hereditary ataxia. 1 Nearly all patients who meet the genetic and neurologic criteria for FA have evidence of cardiac involvement. 1,5,11 Cardiac involvement determines survival prospects.…”

Section: Discussionmentioning

confidence: 99%

“…1 Nearly all patients who meet the genetic and neurologic criteria for FA have evidence of cardiac involvement. 1,5,11 Cardiac involvement determines survival prospects. 1,4,12 Identifying early markers of cardiac involvement should enable the more aggressive institution of cardioprotective therapies to delay disease progression, although effective treatments remain in development.…”

Section: Discussionmentioning

confidence: 99%

“…1,5,11 Cardiac involvement determines survival prospects. 1,4,12 Identifying early markers of cardiac involvement should enable the more aggressive institution of cardioprotective therapies to delay disease progression, although effective treatments remain in development. 5 Our group has previously shown that myocardial fibrosis can occur in FA patients who do not have overt cardiomyopathy.…”

Section: Discussionmentioning

confidence: 99%

“…1 The genetic abnormality produces deficiency in the inner mitochondrial protein frataxin and leads to mitochondrial iron accumulation. The increased sensitivity to oxidative stress consequent to mitochondrial dysfunction produces neurologic symptoms and cardiomyopathy.…”

Section: Serum Versus Imaging Biomarkers In Friedreich Ataxiamentioning

confidence: 99%

“…2,3 The left ventricle (LV) in patients with FA cardiomyopathy might exhibit hypertrophy, dilation, or concentric remodeling; arrhythmias and heart failure contribute to death. 1,4,5 Cardiac magnetic resonance (CMR) affords direct, in vivo evaluation of LV remodeling and fibrosis that can develop before cardiomyopathy in FA becomes clinically apparent. 6 The myocardial extracellular matrix plays a key role in determining myocardial architecture.…”

Section: Serum Versus Imaging Biomarkers In Friedreich Ataxiamentioning

confidence: 99%

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Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes

Mehta¹,

Chacko²,

Jin³

et al. 2016

Texas Heart Institute Journal

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Patients with Friedreich ataxia typically die of cardiomyopathy, marked by myocardial fibrosis and abnormal left ventricular (LV) geometry. We measured procollagen I carboxyterminal propeptide (PICP), a serum biomarker of collagen production, and characterized genotypes, phenotypes, and outcomes in these patients. Twenty-nine patients with Friedreich ataxia (mean age, 34.2 ± 2.2 yr) and 29 healthy subjects (mean age, 32.5 ± 1.1 yr) underwent serum PICP measurements. Patients underwent cardiac magnetic resonance imaging and outcome evaluations at baseline and 12 months. Baseline PICP values were significantly higher in the patients than in the control group (1,048 ± 77 vs 614 ± 23 ng/mL; P <0.001); severity of genetic abnormality did not indicate severity of PICP elevation. Higher PICP levels corresponded to greater LV concentric remodeling only at baseline (r=0.37, P <0.05). Higher baseline PICP strongly indicated subsequent increases in LV end-diastolic volume (r=0.52, P=0.02). The PICP levels did not distinguish between 14 patients with evident myocardial fibrosis identified through positive late gadolinium enhancement and 15 who had no enhancement (1,067 ± 125 vs 1,030 ± 98 ng/mL; P=0.82). At 12 months, cardiac events had occurred in 3 of 14 fibrosis-positive and none of 15 fibrosis-negative patients (P=0.1); their baseline PICP levels were similar. We conclude that PICP, a serum marker of collagen synthesis, is elevated in Friedreich ataxia and indicates baseline abnormal LV geometry and subsequent dilation. Cardiac magnetic resonance and PICP warrant consideration as complementary biomarkers in therapeutic trials of Friedreich ataxia cardiomyopathy.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Serum Versus Imaging Biomarkers In Friedreich Ataxiamentioning

confidence: 99%

Section: Serum Versus Imaging Biomarkers In Friedreich Ataxiamentioning

confidence: 99%

See 3 more Smart Citations

Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes

Mehta¹,

Chacko²,

Jin³

et al. 2016

Texas Heart Institute Journal

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Ultra‐structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigation

Türkmenoğlu

Kasirga

Çelik

2015

Microscopy Res & Technique

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Friedreich's ataxia (FRDA) is an autosomal recessive inherited disorder involving progressive damage to the central and peripheral nervous systems and cardiomyopathy. FRDA is caused by the silencing of the FXN gene and reduced levels of the encoded protein, frataxin. Frataxin is a mitochondrial protein that functions primarily in iron-sulfur cluster synthesis. Skin disorders including hair abnormalities have previously been reported in patients with mitochondrial disorders. However, to our knowledge, ultra-structural hair alterations in FRDA were not demonstrated. The purpose of this study was to determine ultra-structural alterations in the hairs of FRDA patients as well as carriers. Hair specimen from four patients, who are in different stages of the disease, and two carriers were examined by scanning electron microscope. Thin and weak hair follicles with absence of homogeneities on the cuticular surface, local damages of the cuticular layer, cuticular fractures were detected in both carriers and patients, but these alterations were much more prominent in the hair follicles of patients. In addition, erosions on the surface of the cuticle and local deep cavities just under the cuticular level were observed only in patients. Indistinct cuticular pattern, pores on the cuticular surface, and presence of concavities on the hair follicle were also detected in patients in later stages of the disease. According to our results, progression of the disease increased the alterations on hair structure. We suggest that ultra-structural alterations observed in hair samples might be due to oxidative stress caused by deficient frataxin expression in mitochondria.

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The Progression of Cardiomyopathy in the Mitochondrial Disease, Friedreich’s Ataxia

Ting

Huang

Sivagurunathan

et al. 2014

Mitochondria: The Anti- Cancer Target for the Third Millennium

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Friedreich’s Ataxia: a review from a cardiology perspective

Cited by 24 publications

References 25 publications

Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes

Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes

Ultra‐structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigation

The Progression of Cardiomyopathy in the Mitochondrial Disease, Friedreich’s Ataxia

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