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Central core disease, autosomal recessive

MedGen UID:
864805
•Concept ID:
C4016368
•
Disease or Syndrome
Synonyms: Autosomal recessive central core disease; Autosomal recessive central core myopathy
SNOMED CT: Autosomal recessive central core disease (1201862006); Autosomal recessive central core myopathy (1201862006)

Definition

An autosomal recessive hereditary neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s). [from SNOMEDCT_US]

Recent clinical studies

Etiology

Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Cotta A, Souza LS, Carvalho E, Feitosa LN, Cunha A Jr, Navarro MM, Valicek J, Menezes MM, Neves SVN, Xavier-Neto R, Vargas AP, Takata RI, Paim JF, Vainzof M
Genes (Basel) 2022 Apr 26;13(5) doi: 10.3390/genes13050760. PMID: 35627144Free PMC Article
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E
Neuromuscul Disord 2017 Nov;27(11):975-985. Epub 2017 May 30 doi: 10.1016/j.nmd.2017.05.016. PMID: 28818389
Neuroacanthocytosis.
Walker RH, Jung HH, Danek A
Handb Clin Neurol 2011;100:141-51. doi: 10.1016/B978-0-444-52014-2.00007-0. PMID: 21496574
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article
Congenital myopathies and related disorders.
Taratuto AL
Curr Opin Neurol 2002 Oct;15(5):553-61. doi: 10.1097/00019052-200210000-00006. PMID: 12351999

Diagnosis

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.
Galleni Leão L, Santos Souza L, Nogueira L, Pavanello RCM, Gurgel-Giannetti J, Reed UC, Oliveira ASB, Cuperman T, Cotta A, FPaim J, Zatz M, Vainzof M
Acta Myol 2020 Dec;39(4):274-282. Epub 2020 Dec 1 doi: 10.36185/2532-1900-030. PMID: 33458582Free PMC Article
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.
Romero NB, Herasse M, Monnier N, Leroy JP, Fischer D, Ferreiro A, Viollet L, Eymard B, Laforêt P, Monges S, Lubieniecki F, Taratuto AL, Guicheney P, Lunardi J, Fardeau M
Acta Myol 2005 Oct;24(2):70-3. PMID: 16550918
Congenital myopathies and related disorders.
Taratuto AL
Curr Opin Neurol 2002 Oct;15(5):553-61. doi: 10.1097/00019052-200210000-00006. PMID: 12351999

Therapy

Evaluation of safety and early efficacy of AAV gene therapy in mouse models of vanishing white matter disease.
Herstine JA, Chang PK, Chornyy S, Stevenson TJ, Sunshine AC, Nokhrina K, Rediger J, Wentz J, Vetter TA, Scholl E, Holaway C, Pyne NK, Bratasz A, Yeoh S, Flanigan KM, Bonkowsky JL, Bradbury AM
Mol Ther 2024 Jun 5;32(6):1701-1720. Epub 2024 Mar 27 doi: 10.1016/j.ymthe.2024.03.034. PMID: 38549375Free PMC Article
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Naturally-occurring spinosyn A and its derivatives function as argininosuccinate synthase activator and tumor inhibitor.
Zou Z, Hu X, Luo T, Ming Z, Chen X, Xia L, Luo W, Li J, Xu N, Chen L, Cao D, Wen M, Kong F, Peng K, Xie Y, Li X, Ma D, Yang C, Chen C, Yi W, Liu O, Liu S, Luo J, Luo Z
Nat Commun 2021 Apr 15;12(1):2263. doi: 10.1038/s41467-021-22235-8. PMID: 33859183Free PMC Article
RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.
Zullo A, Perrotta G, D'Angelo R, Ruggiero L, Gravino E, Del Vecchio L, Santoro L, Salvatore F, Carsana A
Biomed Res Int 2019;2019:7638946. Epub 2019 Apr 21 doi: 10.1155/2019/7638946. PMID: 31165076Free PMC Article
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article

Prognosis

PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration.
Christen M, Oevermann A, Rupp S, Vaz FM, Wever EJM, Braus BK, Jagannathan V, Kehl A, Hytönen MK, Lohi H, Leeb T
Mol Genet Metab 2024 Mar;141(3):108149. Epub 2024 Jan 21 doi: 10.1016/j.ymgme.2024.108149. PMID: 38277988
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E
Neuromuscul Disord 2017 Nov;27(11):975-985. Epub 2017 May 30 doi: 10.1016/j.nmd.2017.05.016. PMID: 28818389
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.
Grati M, Yan D, Raval MH, Walsh T, Ma Q, Chakchouk I, Kannan-Sundhari A, Mittal R, Masmoudi S, Blanton SH, Tekin M, King MC, Yengo CM, Liu XZ
Hum Mutat 2016 May;37(5):481-7. Epub 2016 Feb 16 doi: 10.1002/humu.22961. PMID: 26841241Free PMC Article
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Mignot C, Apartis E, Durr A, Marques Lourenço C, Charles P, Devos D, Moreau C, de Lonlay P, Drouot N, Burglen L, Kempf N, Nourisson E, Chantot-Bastaraud S, Lebre AS, Rio M, Chaix Y, Bieth E, Roze E, Bonnet I, Canaple S, Rastel C, Brice A, Rötig A, Desguerre I, Tranchant C, Koenig M, Anheim M
Orphanet J Rare Dis 2013 Oct 28;8:173. doi: 10.1186/1750-1172-8-173. PMID: 24164873Free PMC Article
A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance.
Manzur AY, Sewry CA, Ziprin J, Dubowitz V, Muntoni F
Neuromuscul Disord 1998 Oct;8(7):467-73. doi: 10.1016/s0960-8966(98)00064-9. PMID: 9829276

Clinical prediction guides

PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration.
Christen M, Oevermann A, Rupp S, Vaz FM, Wever EJM, Braus BK, Jagannathan V, Kehl A, Hytönen MK, Lohi H, Leeb T
Mol Genet Metab 2024 Mar;141(3):108149. Epub 2024 Jan 21 doi: 10.1016/j.ymgme.2024.108149. PMID: 38277988
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Prevalence and features of non-motor symptoms in Wilson's disease.
Palmieri GR, De Michele G, Matarazzo M, Di Dato F, Perillo S, Dello Iacovo DCP, Cuomo N, Pane C, Russo CV, Iorio R, De Michele G, De Rosa A
Parkinsonism Relat Disord 2022 Feb;95:103-106. Epub 2022 Jan 21 doi: 10.1016/j.parkreldis.2022.01.016. PMID: 35093711
Animal models for genetic neuromuscular diseases.
Vainzof M, Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D, Maia LS, Sell K, Yamamoto LU
J Mol Neurosci 2008 Mar;34(3):241-8. Epub 2008 Jan 18 doi: 10.1007/s12031-007-9023-9. PMID: 18202836
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
Ferreiro A, Monnier N, Romero NB, Leroy JP, Bönnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P
Ann Neurol 2002 Jun;51(6):750-9. doi: 10.1002/ana.10231. PMID: 12112081

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