Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F20%3A10412712" target="_blank" >RIV/00216208:11130/20:10412712 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/20:10412712

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=_vKh6P2COU" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=_vKh6P2COU</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/ene.14446" target="_blank" >10.1111/ene.14446</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Popis výsledku v původním jazyce

BACKGROUND: We aimed to define the radiological picture of Facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1, and to explore correlations between imaging and clinical/molecular data. METHODS: Upper girdle and/or lower limb muscle MRI scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centers were analyzed. T1-weighted and Short-tau inversion recovery (STIR) sequences were used to evaluate the global pattern and to assess the extent of fatty replacement and muscle edema. RESULTS: The most frequently affected muscles were obliquus and transversus abdominis, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle. Iliopsoas, popliteus, obturator internus and tibialis posterior in the lower limbs and subscapularis, spinati, sternocleidomastoid, and levator scapulae in the upper girdle were the most spared. Asymmetry and STIR hyperintensities were consistent features. The pattern of muscle involvement was similar to that of FSHD1, and the combined involvement of trapezius, abdominal and hamstring muscles, together with complete sparing of iliopsoas and subscapularis was detected in 91% of patients. Peculiar differences were identified in a rostro-caudal gradient, a predominant involvement of lower limb muscles compared to the upper girdle, and in the higher percentage of STIR hyperintensities in FSHD2. CONCLUSION: This multicenter study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD-related disease spectrum.

Název v anglickém jazyce

Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Popis výsledku anglicky

BACKGROUND: We aimed to define the radiological picture of Facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1, and to explore correlations between imaging and clinical/molecular data. METHODS: Upper girdle and/or lower limb muscle MRI scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centers were analyzed. T1-weighted and Short-tau inversion recovery (STIR) sequences were used to evaluate the global pattern and to assess the extent of fatty replacement and muscle edema. RESULTS: The most frequently affected muscles were obliquus and transversus abdominis, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle. Iliopsoas, popliteus, obturator internus and tibialis posterior in the lower limbs and subscapularis, spinati, sternocleidomastoid, and levator scapulae in the upper girdle were the most spared. Asymmetry and STIR hyperintensities were consistent features. The pattern of muscle involvement was similar to that of FSHD1, and the combined involvement of trapezius, abdominal and hamstring muscles, together with complete sparing of iliopsoas and subscapularis was detected in 91% of patients. Peculiar differences were identified in a rostro-caudal gradient, a predominant involvement of lower limb muscles compared to the upper girdle, and in the higher percentage of STIR hyperintensities in FSHD2. CONCLUSION: This multicenter study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD-related disease spectrum.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

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

Název periodika

European Journal of Neurology

ISSN

1351-5101

e-ISSN

—

Svazek periodika

27

Číslo periodika v rámci svazku

12

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

12

Strana od-do

2604-2615

Kód UT WoS článku

000559475900001

EID výsledku v databázi Scopus

2-s2.0-85089387138