MRI in sarcoglycanopathies: a large international cohort study

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10375415" target="_blank" >RIV/00216208:11130/18:10375415 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/18:10375415

Result on the web

<a href="https://doi.org/10.1136/jnnp-2017-316736" target="_blank" >https://doi.org/10.1136/jnnp-2017-316736</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1136/jnnp-2017-316736" target="_blank" >10.1136/jnnp-2017-316736</a>

Result language

angličtina

Original language name

MRI in sarcoglycanopathies: a large international cohort study

Original language description

Objectives To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations in one of the four genes coding for muscle sarcoglycans. Methods Lower limb MRI scans of patients with LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well. Results Scans from 69 patients were examined (38 LGMD2D, 18 LGMD2C, 12 LGMD2E and 1 LGMD2F). A common pattern of involvement was found in all the analysed scans irrespective of the mutated gene. The most and earliest affected muscles were the thigh adductors, glutei and posterior thigh groups, while lower leg muscles were relatively spared even in advanced disease. A proximodistal gradient of involvement of vasti muscles was a consistent finding in these patients, including the most severe ones. Conclusions Muscle involvement on MRI is consistent in patients with LGMD2C-F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30224 - Radiology, nuclear medicine and medical imaging

Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Neurology, Neurosurgery and Psychiatry

ISSN

0022-3050

e-ISSN

—

Volume of the periodical

89

Issue of the periodical within the volume

1

Country of publishing house

GB - UNITED KINGDOM

Number of pages

6

Pages from-to

72-77

UT code for WoS article

000418228400012

EID of the result in the Scopus database

2-s2.0-85039991338