First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease.
First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease.
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DOI：
10.3389/fneur.2021.715386
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发表时间：
2021
影响因子：
3.4
通讯作者：
Meola G
中科院分区：
文献类型：
--
作者：
Cavalli M;Cardani R;Renna LV;Toffetti M;Villa L;Meola G
MATR3基因突变与远端肌病伴声带和咽部无力（VCPDM）以及家族性和散发性运动神经元疾病相关。迄今为止，文献中已描述了来自美国、德国、日本、奥地利和法国的12个VCPDM家族。在这里，我们报告了一个意大利家庭的先证者的40岁的女性表现为进行性双侧足下垂，口吃，远端肌肉萎缩，没有运动神经元的影响的临床体征。她的父亲，几年前去世，提出了类似的远端肌病表型，而她的20岁的儿子是无症状。先证者肌肉活检可见肌病性改变伴空泡化。这些结果，加上特殊的临床表现，导致MATR 3基因测序，揭示了一个杂合子p.S85C突变的先证者。在她儿子身上也发现了同样的突变。经过5年的随访，先证者病情进展轻微，而她的儿子仍无症状。我们的先证者的临床，放射学和病理学数据，并与以前报道的VCPDM病例进行比较。VCPDM是与MATR 3基因p.S85C突变相关的迟发性肌病的一种非常同质的表型。MATR 3相关的病理学，包括肌病和运动神经元疾病，代表了多系统蛋白质病（MSP）的一个说明性实例，如与VCP、HNRNPA2B1、HNRNPA1和SQSTM 1基因突变相关的其他疾病。本报告有助于进一步表征这种仍然知之甚少的病理学，并指出肌肉活检在具有挑战性的情况下的诊断效用。
Mutations in the MATR3 gene are associated to distal myopathy with vocal cord and pharyngeal weakness (VCPDM), as well as familiar and sporadic motor neuron disease. To date, 12 VCPDM families from the United States, Germany, Japan, Bulgary, and France have been described in the literature. Here we report an Italian family with a propositus of a 40-year-old woman presenting progressive bilateral foot drop, rhinolalia, and distal muscular atrophy, without clinical signs of motor neuron affection. Her father, deceased some years before, presented a similar distal myopathy phenotype, while her 20-year-old son is asymptomatic. Myopathic changes with vacuolization were observed in muscle biopsy from the propositus. These results, together with the peculiar clinical picture, lead to MATR3 gene sequencing, which revealed a heterozygous p.S85C mutation in the propositus. The same mutation was found in her son. Over a 5-year follow-up, progression is mild in the propositus, while her son remains asymptomatic. Clinical, radiological, and pathological data of our propositus are presented and compared to previously reported cases of VCPDM. VCPDM turns out to be a quite homogenous phenotype of late-onset myopathy associated to p.S85C mutation in MATR3 gene. MATR3-related pathology, encompassing myopathy and motor neuron disease, represents an illustrative example of multisystem proteinopathy (MSP), such as other diseases associated to mutations in VCP, HNRNPA2B1, HNRNPA1, and SQSTM1 genes. The present report contributes to a further characterization of this still poorly understood pathology and points out the diagnostic utility of muscle biopsy in challenging cases.
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DOI：
10.36185/2532-1900-028
发表时间：
2020-12
期刊：
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
影响因子：
--
作者：
Savarese M;Sarparanta J;Vihola A;Jonson PH;Johari M;Rusanen S;Hackman P;Udd B
通讯作者：
Udd B
影响因子：
3.7
作者：
Gallego-Iradi, M. Carolina;Clare, Alexis M.;Borchelt, David R.
通讯作者：
Borchelt, David R.
影响因子：
1.9
作者：
Garvey, SM;Senderek, J;Hauser, MA
通讯作者：
Hauser, MA
影响因子：
25
作者：
Johnson, Janel O.;Pioro, Erik P.;Boehringer, Ashley;Chia, Ruth;Feit, Howard;Renton, Alan E.;Pliner, Hannah A.;Abramzon, Yevgeniya;Marangi, Giuseppe;Winborn, Brett J.;Gibbs, J. Raphael;Nalls, Michael A.;Morgan, Sarah;Shoai, Maryam;Hardy, John;Pittman, Alan;Orrell, Richard W.;Malaspina, Andrea;Sidle, Katie C.;Fratta, Pietro;Harms, Matthew B.;Baloh, Robert H.;Pestronk, Alan;Weihl, Conrad C.;Rogaeva, Ekaterina;Zinman, Lorne;Drory, Vivian E.;Borghero, Giuseppe;Mora, Gabriele;Calvo, Andrea;Rothstein, Jeffrey D.;Drepper, Carsten;Sendtner, Michael;Singleton, Andrew B.;Taylor, J. Paul;Cookson, Mark R.;Restagno, Gabriella;Sabatelli, Mario;Bowser, Robert;Chio, Adriano;Traynor, Bryan J.
通讯作者：
Traynor, Bryan J.
影响因子：
5.3
作者：
Mensch, Alexander;Meinhardt, Beate;Zierz, Stephan
通讯作者：
Zierz, Stephan