alexa Fourty-Four Years of Brody Disease: It is Time to Review | OMICS International | Abstract
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Review Article

Fourty-Four Years of Brody Disease: It is Time to Review

Guglielmi V1, Voermans NC2, Gualandi F3, Van Engelen BG2, Ferlini A3, Tomelleri G1 and Vattemi G1*

1Department of Neurological and Movement Sciences, Section of Clinical Neurology, University of Verona, Italy

2Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands

3Department of Diagnostic and Experimental Medicine, Medical Genetic Section, University of Ferrara, Italy

*Corresponding Author:
Gaetano Vattemi
Department of Neurological and Movement Sciences
Section of Clinical Neurology, University of Verona, Italy
Tel: +39.045.8074285
Fax: +39.045.8027492
E-mail: [email protected]

Received date: September 03, 2013; Accepted date:September 20, 2013; Published date: September 27, 2013

Citation: Guglielmi V, Voermans NC, Gualandi F, Van Engelen BG, Ferlini A, et al. (2013) Fourty-Four Years of Brody Disease: It is Time to Review. J Genet Syndr Gene Ther 4:181. doi:10.4172/2157-7412.1000181

Copyright: © 2013 Guglielmi V, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Brody disease is an inherited skeletal muscle disorder clinically characterized by exercise-induced muscle stiffness and delayed relaxation due to a diminished sarcoplasmic reticulum Ca2+-ATPase activity. The disease is transmitted as an autosomal recessive trait and results from mutations in the ATP2A1 gene encoding the sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1), a protein that catalyzes the ATP-dependent Ca2+ uptake from the cytosol to the lumen of sarcoplasmic reticulum. Mutations in the SERCA1-encoding gene are absent in a quote of patients with autosomal recessive pattern and have never been found in patients with an autosomal dominant inheritance suggesting the genetic heterogeneity of the disease. Therefore, the term Brody syndrome has been proposed to designate patients with decreased sarcoplasmic reticulum Ca2+-ATPase activity but without ATP2A1 mutation.

The review aims to summarize the salient clinical, laboratory and biochemical findings in patients with Brody disease and Brody syndrome.

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