Mortality in Friedreich Ataxia

Amy Y Tsou; Erin K Paulsen; Sarah J Lagedrost; Susan L Perlman; Katherine D Mathews; George R Wilmot; Bernard Ravina; Arnulf H Koeppen; David R Lynch

doi:10.1016/j.jns.2011.05.023

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Mortality in Friedreich Ataxia

Amy Y Tsou, Erin K Paulsen, Sarah J Lagedrost, Susan L Perlman, Katherine D Mathews, George R Wilmot, Bernard Ravina, Arnulf H Koeppen and David R Lynch

Journal of the neurological sciences, Vol.307(1-2), pp.46-49

08/15/2011

DOI: 10.1016/j.jns.2011.05.023

PMID: 21652007

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Abstract

Although cardiac dysfunction is widely accepted as the most common cause of mortality in Friedreich ataxia (FRDA), no studies have evaluated this since the advent of specific clinical and genetic diagnostic criteria. We performed a retrospective study of FRDA patients to determine cause of death followed by a case–control analysis comparing characteristics of deceased patients with living, age- and sex-matched FRDA controls. Causes of death were cardiac dysfunction (59%), probable cardiac dysfunction (3.3%), non-cardiac (27.9%) or unknown (9.8%). Compared to non-cardiac deaths, cardiac deaths occurred earlier in the disease course (median 29 vs. 17years respectively). Congestive heart failure and arrhythmia were common causes of cardiac-related death. Compared to living, matched FRDA controls, deceased patients had longer triplet repeat lengths and higher rates of arrhythmia and dilated cardiomyopathy. The presence of hypertrophic cardiomyopathy did not differ between deceased and living patients. Cardiac dysfunction was the most frequent cause of death (59%), most commonly from congestive heart failure or arrhythmia. Arrhythmia and dilated cardiomyopathy were significantly more common in deceased patients compared to matched FRDA controls, while in contrast, the presence of cardiac hypertrophy did not differ. More research is needed to establish the clinical significance of hypertrophy in FRDA.

Cerebellum

Cardiomyopathy

Echocardiogram

Neurodegenerative disease

Arrhythmia

Sensory

Details

Title: Subtitle: Mortality in Friedreich Ataxia
Creators: Amy Y Tsou - Department of Neurology, University of Pennsylvania Medical School, USA
Erin K Paulsen - Department of Neurology, University of Pennsylvania Medical School, USA
Sarah J Lagedrost - Department of Neurology, University of Pennsylvania Medical School, USA
Susan L Perlman - University of California Los Angeles, Los Angeles, CA, USA
Katherine D Mathews - University of Iowa, Iowa City, IA, USA
George R Wilmot - Emory University, Atlanta, GA, USA
Bernard Ravina - University of Rochester, Rochester, NY, USA
Arnulf H Koeppen - VA Hospital, Albany, NY, USA
David R Lynch - Department of Neurology, University of Pennsylvania Medical School, USA
Resource Type: Journal article
Publication Details: Journal of the neurological sciences, Vol.307(1-2), pp.46-49
Publisher: Elsevier B.V
DOI: 10.1016/j.jns.2011.05.023
PMID: 21652007
ISSN: 0022-510X
eISSN: 1878-5883
Language: English
Date published: 08/15/2011
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984019121102771

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