Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

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Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies : a large international cohort. / Quijano-Roy, Susana; Haberlova, Jana; Castiglioni, Claudia; Vissing, John; Munell, Francina; Rivier, François; Stojkovic, Tanya; Malfatti, Edoardo; Gómez García de la Banda, Marta; Tasca, Giorgio; Costa Comellas, Laura; Benezit, Audrey; Amthor, Helge; Dabaj, Ivana; Gontijo Camelo, Clara; Laforêt, Pascal; Rendu, John; Romero, Norma B.; Cavassa, Eliana; Fattori, Fabiana; Beroud, Christophe; Zídková, Jana; Leboucq, Nicolas; Løkken, Nicoline; Sanchez-Montañez, Ángel; Ortega, Ximena; Kynčl, Martin; Metay, Corinne; Gómez-Andrés, David; Carlier, Robert Y.

I: Journal of Neurology, Bind 269, 2022, s. 2414–2429.

Publikation: Bidrag til tidsskriftTidsskriftartikelfagfællebedømt

Harvard

Quijano-Roy, S, Haberlova, J, Castiglioni, C, Vissing, J, Munell, F, Rivier, F, Stojkovic, T, Malfatti, E, Gómez García de la Banda, M, Tasca, G, Costa Comellas, L, Benezit, A, Amthor, H, Dabaj, I, Gontijo Camelo, C, Laforêt, P, Rendu, J, Romero, NB, Cavassa, E, Fattori, F, Beroud, C, Zídková, J, Leboucq, N, Løkken, N, Sanchez-Montañez, Á, Ortega, X, Kynčl, M, Metay, C, Gómez-Andrés, D & Carlier, RY 2022, 'Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort', Journal of Neurology, bind 269, s. 2414–2429. https://doi.org/10.1007/s00415-021-10806-0

APA

Quijano-Roy, S., Haberlova, J., Castiglioni, C., Vissing, J., Munell, F., Rivier, F., Stojkovic, T., Malfatti, E., Gómez García de la Banda, M., Tasca, G., Costa Comellas, L., Benezit, A., Amthor, H., Dabaj, I., Gontijo Camelo, C., Laforêt, P., Rendu, J., Romero, N. B., Cavassa, E., ... Carlier, R. Y. (2022). Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort. Journal of Neurology, 269, 2414–2429. https://doi.org/10.1007/s00415-021-10806-0

Vancouver

Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F o.a. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort. Journal of Neurology. 2022;269:2414–2429. https://doi.org/10.1007/s00415-021-10806-0

Author

Quijano-Roy, Susana ; Haberlova, Jana ; Castiglioni, Claudia ; Vissing, John ; Munell, Francina ; Rivier, François ; Stojkovic, Tanya ; Malfatti, Edoardo ; Gómez García de la Banda, Marta ; Tasca, Giorgio ; Costa Comellas, Laura ; Benezit, Audrey ; Amthor, Helge ; Dabaj, Ivana ; Gontijo Camelo, Clara ; Laforêt, Pascal ; Rendu, John ; Romero, Norma B. ; Cavassa, Eliana ; Fattori, Fabiana ; Beroud, Christophe ; Zídková, Jana ; Leboucq, Nicolas ; Løkken, Nicoline ; Sanchez-Montañez, Ángel ; Ortega, Ximena ; Kynčl, Martin ; Metay, Corinne ; Gómez-Andrés, David ; Carlier, Robert Y. / Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies : a large international cohort. I: Journal of Neurology. 2022 ; Bind 269. s. 2414–2429.

Bibtex

@article{61f85718aecb4675bc84a1a04980469b,
title = "Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort",
abstract = "Background: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the classic congenital presentation with no ambulation and complete merosin deficiency in muscle biopsy, but is far more difficult in milder ambulant individuals with partial merosin deficiency. Objective: To investigate the diagnostic utility of muscle imaging in LAMA2-RD using whole-body magnetic resonance imaging (WBMRI). Results: 27 patients (2–62 years, 21–80% with acquisition of walking ability and 6 never ambulant) were included in an international collaborative study. All carried two pathogenic mutations, mostly private missense changes. An intronic variant (c.909 + 7A > G) was identified in all the Chilean cases. Three patients (two ambulant) showed intellectual disability, epilepsy, and brain structural abnormalities. WBMRI T1w sequences or T2 fat-saturated images (Dixon) revealed abnormal muscle fat replacement predominantly in subscapularis, lumbar paraspinals, gluteus minimus and medius, posterior thigh (adductor magnus, biceps femoris, hamstrings) and soleus. This involvement pattern was consistent for both ambulant and non-ambulant patients. The degree of replacement was predominantly correlated to the disease duration, rather than to the onset or the clinical severity. A “COL6-like sandwich sign” was observed in several muscles in ambulant adults, but different involvement of subscapularis, gluteus minimus, and medius changes allowed distinguishing LAMA2-RD from collagenopathies. The thigh muscles seem to be the best ones to assess disease progression. Conclusion: WBMRI in LAMA2-RD shows a homogeneous pattern of brain and muscle imaging, representing a supportive diagnostic tool.",
keywords = "Congenital muscular dystrophy, Heatmap, Merosin, Muscle MRI, Myopathy",
author = "Susana Quijano-Roy and Jana Haberlova and Claudia Castiglioni and John Vissing and Francina Munell and Fran{\c c}ois Rivier and Tanya Stojkovic and Edoardo Malfatti and {G{\'o}mez Garc{\'i}a de la Banda}, Marta and Giorgio Tasca and {Costa Comellas}, Laura and Audrey Benezit and Helge Amthor and Ivana Dabaj and {Gontijo Camelo}, Clara and Pascal Lafor{\^e}t and John Rendu and Romero, {Norma B.} and Eliana Cavassa and Fabiana Fattori and Christophe Beroud and Jana Z{\'i}dkov{\'a} and Nicolas Leboucq and Nicoline L{\o}kken and {\'A}ngel Sanchez-Monta{\~n}ez and Ximena Ortega and Martin Kyn{\v c}l and Corinne Metay and David G{\'o}mez-Andr{\'e}s and Carlier, {Robert Y.}",
note = "Publisher Copyright: {\textcopyright} 2021, Springer-Verlag GmbH Germany, part of Springer Nature.",
year = "2022",
doi = "10.1007/s00415-021-10806-0",
language = "English",
volume = "269",
pages = "2414–2429",
journal = "Deutsche Zeitschrift fur Nervenheilkunde",
issn = "0939-1517",
publisher = "Springer Medizin",

}

RIS

TY - JOUR

T1 - Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies

T2 - a large international cohort

AU - Quijano-Roy, Susana

AU - Haberlova, Jana

AU - Castiglioni, Claudia

AU - Vissing, John

AU - Munell, Francina

AU - Rivier, François

AU - Stojkovic, Tanya

AU - Malfatti, Edoardo

AU - Gómez García de la Banda, Marta

AU - Tasca, Giorgio

AU - Costa Comellas, Laura

AU - Benezit, Audrey

AU - Amthor, Helge

AU - Dabaj, Ivana

AU - Gontijo Camelo, Clara

AU - Laforêt, Pascal

AU - Rendu, John

AU - Romero, Norma B.

AU - Cavassa, Eliana

AU - Fattori, Fabiana

AU - Beroud, Christophe

AU - Zídková, Jana

AU - Leboucq, Nicolas

AU - Løkken, Nicoline

AU - Sanchez-Montañez, Ángel

AU - Ortega, Ximena

AU - Kynčl, Martin

AU - Metay, Corinne

AU - Gómez-Andrés, David

AU - Carlier, Robert Y.

N1 - Publisher Copyright: © 2021, Springer-Verlag GmbH Germany, part of Springer Nature.

PY - 2022

Y1 - 2022

N2 - Background: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the classic congenital presentation with no ambulation and complete merosin deficiency in muscle biopsy, but is far more difficult in milder ambulant individuals with partial merosin deficiency. Objective: To investigate the diagnostic utility of muscle imaging in LAMA2-RD using whole-body magnetic resonance imaging (WBMRI). Results: 27 patients (2–62 years, 21–80% with acquisition of walking ability and 6 never ambulant) were included in an international collaborative study. All carried two pathogenic mutations, mostly private missense changes. An intronic variant (c.909 + 7A > G) was identified in all the Chilean cases. Three patients (two ambulant) showed intellectual disability, epilepsy, and brain structural abnormalities. WBMRI T1w sequences or T2 fat-saturated images (Dixon) revealed abnormal muscle fat replacement predominantly in subscapularis, lumbar paraspinals, gluteus minimus and medius, posterior thigh (adductor magnus, biceps femoris, hamstrings) and soleus. This involvement pattern was consistent for both ambulant and non-ambulant patients. The degree of replacement was predominantly correlated to the disease duration, rather than to the onset or the clinical severity. A “COL6-like sandwich sign” was observed in several muscles in ambulant adults, but different involvement of subscapularis, gluteus minimus, and medius changes allowed distinguishing LAMA2-RD from collagenopathies. The thigh muscles seem to be the best ones to assess disease progression. Conclusion: WBMRI in LAMA2-RD shows a homogeneous pattern of brain and muscle imaging, representing a supportive diagnostic tool.

AB - Background: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the classic congenital presentation with no ambulation and complete merosin deficiency in muscle biopsy, but is far more difficult in milder ambulant individuals with partial merosin deficiency. Objective: To investigate the diagnostic utility of muscle imaging in LAMA2-RD using whole-body magnetic resonance imaging (WBMRI). Results: 27 patients (2–62 years, 21–80% with acquisition of walking ability and 6 never ambulant) were included in an international collaborative study. All carried two pathogenic mutations, mostly private missense changes. An intronic variant (c.909 + 7A > G) was identified in all the Chilean cases. Three patients (two ambulant) showed intellectual disability, epilepsy, and brain structural abnormalities. WBMRI T1w sequences or T2 fat-saturated images (Dixon) revealed abnormal muscle fat replacement predominantly in subscapularis, lumbar paraspinals, gluteus minimus and medius, posterior thigh (adductor magnus, biceps femoris, hamstrings) and soleus. This involvement pattern was consistent for both ambulant and non-ambulant patients. The degree of replacement was predominantly correlated to the disease duration, rather than to the onset or the clinical severity. A “COL6-like sandwich sign” was observed in several muscles in ambulant adults, but different involvement of subscapularis, gluteus minimus, and medius changes allowed distinguishing LAMA2-RD from collagenopathies. The thigh muscles seem to be the best ones to assess disease progression. Conclusion: WBMRI in LAMA2-RD shows a homogeneous pattern of brain and muscle imaging, representing a supportive diagnostic tool.

KW - Congenital muscular dystrophy

KW - Heatmap

KW - Merosin

KW - Muscle MRI

KW - Myopathy

U2 - 10.1007/s00415-021-10806-0

DO - 10.1007/s00415-021-10806-0

M3 - Journal article

C2 - 34559299

AN - SCOPUS:85115623953

VL - 269

SP - 2414

EP - 2429

JO - Deutsche Zeitschrift fur Nervenheilkunde

JF - Deutsche Zeitschrift fur Nervenheilkunde

SN - 0939-1517

ER -

ID: 301347710