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Acta Neurologica Scandinavica
Article . 2013 . Peer-reviewed
License: Wiley TDM
Data sources: Crossref
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No evidence of cardiomyopathy in spinal and bulbar muscular atrophy

Authors: Querin G; Melacini P; D'Ascenzo C; Morandi L; Mazzini L; Silani V; Romito S; +4 Authors

No evidence of cardiomyopathy in spinal and bulbar muscular atrophy

Abstract

Spinal and bulbar muscular atrophy (SBMA) is a lower motor neuron disease caused by a CAG repeat expansion within the androgen receptor (AR) gene. Toxic nuclear accumulation of mutant AR has been observed in tissues other than nervous system including cardiac muscle. Moreover, CAG polymorphism length within AR has been associated with an increased risk of heart disease.To test the hypothesis of the presence of cardiomyopathy in SBMA, a full cardiac protocol was applied to 25 SBMA patients.Patients' age ranged between 32 and 75 years. Cardiologic examination, 12-lead ECG, and echocardiography showed no abnormalities other than those consistent with hypertensive heart disease. One patient showed frequent supraventricular premature beats in absence of other significant arrhythmias at the 24-h ECG Holter.Our findings do not support the hypothesis of a primary cardiomyopathy in SBMA.

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Italy
Keywords

Adult, Male, Androgen receptor; Heart; Polyglutamine; Spinal and bulbar muscular atrophy;, Middle Aged, Muscular Disorders, Atrophic, White People, Electrocardiography, androgen receptor,heart,polyglutamine,spinal and bulbar muscular atrophy, Trinucleotide Repeats, Receptors, Androgen, Humans, Female, Cardiomyopathies, androgen receptor; heart; polyglutamine; spinal and bulbar muscular atrophy, Aged

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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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