Fourty-Four Years of Brody Disease: It is Time to ReviewGuglielmi V1, Voermans NC2, Gualandi F3, Van Engelen BG2, Ferlini A3, Tomelleri G1 and Vattemi G1*
- *Corresponding Author:
- Gaetano Vattemi
Department of Neurological and Movement Sciences
Section of Clinical Neurology, University of Verona, Italy
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.
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.