Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern

Muscle and Nerve

Volumn 52, Issue 5, 2015, Pages 728-735

  Hankiewicz, Karolina ^a   Carlier, Robert Y ^a,b,c   Lazaro, Leila ^d   Linzoain, Javier ^e   Barnerias, Christine ^b,f   Gómez Andrés, David ^a,g   Avila Smirnow, Daniela ^a,h,i   Ferreiro, Ana ^a,j   Estournet, Brigitte ^a,b   Guicheney, Pascale ^k   Germain, Dominique P ^c   Richard, Pascale ^j   Bulacio, Sebastian ^l   Mompoint, Dominique ^a   Quijano Roy, Susana ^a,b,c  

^a RAYMOND POINCARÉ HOSPITAL   (France)

^b Centre de Référence de Maladies Neuromusculaires Garches Necker Mondor Hendaye GNMH   (France)

^c LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^d Centre Hospitalier Côte Basque   (France)

^e Instituto de Neurología Infanto Juvenil   (Argentina)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^h PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

ⁱ HOSPITAL DR SÓTERO DEL RÍO   (Chile)

^j PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^k SORBONNE UNIVERSITÉ   (France)

^l Instituto Conci Carpinella   (Argentina)

more..

Author keywords

Genetics; Heatmap analysis; Magnetic resonance imaging; MRI; Myopathy; Pediatrics

Indexed keywords

SELENOPROTEIN; SELENOPROTEIN N1; UNCLASSIFIED DRUG; MUSCLE PROTEIN; SEPN1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BICEPS FEMORIS MUSCLE; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; FEMALE; GASTROCNEMIUS MUSCLE; GENE MUTATION; GENETIC SCREENING; GENETIC TRAIT; GLUTEUS MAXIMUS MUSCLE; GRACILIS MUSCLE; HUMAN; LOWER LEG; MALE; MASTICATORY MUSCLE; MUSCLE ATROPHY; MUSCLE HYPOTONIA; MUSCLE MASS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE SCANNER; PELVIC GIRDLE; PRIORITY JOURNAL; RESPIRATORY FUNCTION; SCHOOL CHILD; SEMITENDINOUS MUSCLE; SHOULDER GIRDLE; SPINE FUSION; STERNOCLEIDOMASTOID MUSCLE; TRUNK; WHOLE BODY MRI; GENETICS; MUSCULAR DISEASES; NUCLEAR MAGNETIC RESONANCE IMAGING; PROCEDURES; WHOLE BODY IMAGING; YOUNG ADULT;

ADOLESCENT; CHILD; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE PROTEINS; MUSCULAR DISEASES; SELENOPROTEINS; WHOLE BODY IMAGING; YOUNG ADULT;

EID: 84943198278     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24634     Document Type: Article

References (31)

1. Dubowitz V. Rigid spine syndrome: a muscle syndrome in search of a name. Proc R Soc Med 1973;66:219-220.
2. Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano-Roy S, Merlini L, et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 2001;29:17-18.
3. Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002;71:739-749.
4. Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, et al. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol 2006;59:546-552.
5. Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N, Schreiber G, Hanefeld F, et al. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neurol 2004;55:676-686.
6. Quijano-Roy S, Avila-Smirnow D, Carlier RY, Bevilacqua JA, Romero NB, Fischer D. Selenoproteinopathies. In: Wattjes MP, Fischer D, editors. Neuromuscular imaging. New York: Springer; 2013. p 153-157.
7. Fadic R, Waclawik AJ, Brooks BR, Lotz BP. The rigid spine syndrome due to acid maltase deficiency. Muscle Nerve 1997;20:364-366.
8. Kubo S, Tsukarhara T, Takemitsu M, Yoon KB, Utsumi H, Nonaka I, et al. Presence of emerinopathy in cases of rigid spine syndrome. Neuromuscul Disord 1998;8:502-507.
9. Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, et al. Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. Am J Med Genet 2008;146A:1049-1054.
10. Jobsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, et al. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 1996;14:113-115.
11. Mostacciuolo ML, Miorin M, Martinello F, Angelini C, Perini P, Trevisan CP. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet 1996;97:277-279.
12. Costa AF, Di Primio GA, Schweitzer ME. Magnetic resonance imaging of muscle disease: a pattern-based approach. Muscle Nerve 2012;46:465-481.
13. Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol 2010;20:2447-2460.
14. Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Blanco F, et al. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol 2010;67:201-208.
15. Mercuri E, Talim B, Moghadaszadeh B, Petit N, Brockington N, Counsell S, et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 2002;12:631-638.
16. Quijano-Roy S, Avila-Smirnow D, Carlier RY, and the WBMRI Muscle Study Group. Whole body muscle MRI protocol: pattern recognition in early-onset neuromuscular disorders. Neuromuscul Disord 2012;22(suppl):S68-S84.
17. Lamminen AE. Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement. Br J Radiol 1990;63:946-950.
18. Eisen MB, Spellman PT, Brown PO, Botstein D. Cluster analysis and display of genome-wide expression patterns. Proc Natl Acad Sci USA 1998;95:14863-14868.
19. Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, et al. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. Ann Neurol 2000;47:152-161.
20. Jungbluth H, Davis MR, Müller C, Counsell S, Allsop J, Chattopadhyay A, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 2004;14:785-790.
21. D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, et al. Two patients with 'dropped head syndrome' due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord 2005;15:521-524.
22. Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008;64:177-186.
23. Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord 2005;15:303-310.
24. Carlier RY, Laforet P, Wary C, Mompoint D, Laloui K, Pellegrini N, et al. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: involvement patterns. Neuromuscul Disord 2011;21:791-799.
25. Fischer D, Herasse M, Bitoun M, Barragán-Campos HN, Chiras J, Laforêt P, et al. Characterisation of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain 2006;129:1463-1469.
26. Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord 2010;20:229-237.
27. Castets P, Bertrand AT, Beuvin M, Ferry A, Le Grand F, Castets M, et al. Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum Mol Genet 2011;20:694-704.
28. Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A. Oxidative stress in SEPN1-related myopathy. From pathophysiology to treatment. Ann Neurol 2009;65:677-686.
29. Rederstorff M, Castets P, Arbogast S, Lainé J, Vassilopoulos S, Beuvin M, et al. increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy. PLoS One 2011;6:e23094.
30. Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, et al. Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multi system selenoprotein deficiency disorder in humans. J Clin Invest 2010;120:4220-4235.
31. This article includes Supplementary Material available via the internet at http://www.mrw.interscience.wiley.com/suppmat/0148-639X/suppmat/.