Clinical and genetic study of Friedreich ataxia in an Australian population

Delatycki, Martin B.; Paris, Damien B.B.P.; Gardner, R. J McKinlay; Nicholson, Garth A.; Nassif, Najah T.; Storey, Elsdon; MacMillan, John; Collins, Veronica; Williamson, Robert; Forrest, Susan M.

doi:10.1002/(sici)1096-8628(19991119)87:2<168::aid-ajmg8>3.0.co;2-2

Cited by 131 publications

(110 citation statements)

References 27 publications

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“…198 Ventricular hypertrophy is most commonly observed in patients with FA, with cross-sectional imaging studies showing progressive LV hypertrophy in ≈65% of affected individuals. 72,199 More recent reports suggest that cardiac morphology progresses from normal to concentric biventricular hypertrophy with preserved systolic function and ultimately to a dilated, hypocontractile phenotype because of regression of hypertrophy accompanying myocardial fibrosis. 200,201 The interventricular septal thickness at end diastole has been used to categorize the severity of cardiac involvement in FA; however, the prognostic utility of this scheme has not yet been assessed.…”

Section: Cardiac Evaluation In Famentioning

confidence: 99%

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

211

195

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For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure. Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes. N euromuscular diseases (NMDs) encompass a broad spectrum of diagnoses with overlapping but distinct phenotypes. Common to many NMDs is cardiac involvement. Although the past 3 decades have seen marked advances in our understanding of many NMDs, significant gaps in knowledge remain on how best to approach cardiac care in these patients. For example, survival in Duchenne muscular dystrophy (DMD) has been extended through the use of glucocorticoid use and respiratory support, yet cardiac complications remain a significant cause of morbidity and mortality.1-3 To achieve further gains in care, we will need to improve our understanding of the pathophysiologies driving cardiac involvement in NMDs and advance treatments aimed at preventing the progression of heart failure (HF) and sudden death in NMDs. The recently published findings of an expert working group on cardiac involvement in DMD, which outlined key gaps in knowledge and made specific recommendations aimed at improving diagnosis and management, are a step toward this goal. 4 In this statement, we include a comprehensive overview of the major categories of NMDs with cardiac involvement. For each, a brief background of the gene defect(s), common clinical manifestations (particularly cardiac findings), and current therapies is summarized. Gaps in knowledge are highlighted, and where possible, clinical treatment suggestions are made by the expert writing group appointed by the American Heart Association to review the available literature. Selection of the writing group was performed in accordance with the American Heart Association's conflict-of-interest management policy. Participants volunteered to write sections relevant to their expertise and experience. CLINICAL STATEMENTS AND GUIDELINESconducted a general search of the literature, restricted to human subjects research published between 1980 and 2016. Drafts of each section were written and sent to the chair of the writing group for incorporation into a single document, which was then edited. The edited document was discussed electron...

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Section: Cardiac Evaluation In Famentioning

confidence: 99%

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

211

195

View full text Add to dashboard Cite

show abstract

“…The progressive loss of coordination of limb movements, dysarthria, nystagmus, scoliosis, and diabetes characteristic of FRDA usually manifest before adolescence. The peripheral nervous system (PNS) and the heart are among the most severely affected tissues, and more than half of those afflicted eventually succumb to cardiac-related complications (4)(5)(6).…”

mentioning

confidence: 99%

Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia

Anderson

Kirby

Orr

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

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“…Cardiac diseases appear in 60% of patients with FA, the best known of which is concentric hypertrophic cardiomyopathy. Diabetes mellitus is present in 10 to 30% of patients (7). Lower urinary tract dysfunction has been reported in several ataxias, but has not been studied further (2,8).…”

Section: Discussionmentioning

confidence: 99%

Urinary Symptoms and Urodynamics Findings in Patients with Friedreich's Ataxia

et al. 2013

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Purpose: To assess the prevalence of LUTS, urinary tract and urodynamics changes in patients with Friedreich's Ataxia (FA), the most common form of hereditary ataxia. Materials and Methods:This study evaluated 258 patients with genetically confirmed diagnoses of FA. Of the patients, 158 responded to a questionnaire which assessed their urinary symptoms. Patients with clinical changes underwent renal function examinations, ultrasound, and urodynamic studies (UDS). Results: The sample analyzed showed that 82% of the patients complained of LUTS, although only 22% related the symptoms with quality of life impairment. Twenty eight (18%) of them agreed to undergo urodynamic evaluation. Urgency was the most common symptom. The exam was normal in 4 (14%) and detrusor underactivity was the most common finding. 14% (4 patients) presented with dilatation of the upper urinary tract at ultrasound scans. None of them had creatinine alterations. Conclusions: LUTS was found in a large percentage of patients with FA, but only a few related it to their quality of life impairment. Although creatinine levels was normal in this sample, some patients may show upper urinary tract abnormalities, with deserves close observation and proper care. Urinary Symptoms and Urodynamics Findings in

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Clinical and genetic study of Friedreich ataxia in an Australian population

Cited by 131 publications

References 27 publications

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia

Urinary Symptoms and Urodynamics Findings in Patients with Friedreich's Ataxia

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