دورية أكاديمية
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva
| العنوان: | Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva |
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| المؤلفون: | Severino, M, BERTAMINO, MARTA, Tortora, D, Morana, G, Uccella, S, BOCCIARDI, RENATA, RAVAZZOLO, ROBERTO, Rossi, A, Di Rocco, M. |
| المساهمون: | Severino, M, Bertamino, Marta, Tortora, D, Morana, G, Uccella, S, Bocciardi, Renata, Ravazzolo, Roberto, Rossi, A, Di Rocco, M. |
| بيانات النشر: | BMJ Publishing Group GBR BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND |
| سنة النشر: | 2016 |
| المجموعة: | Università degli Studi di Genova: CINECA IRIS |
| مصطلحات موضوعية: | Brain MRI, Clinical genetic, Diagnostic, Fibrodysplasia Ossificans Progressiva, Activin Receptors, Type I, Adolescent, Adult, Central Nervous System, Child, Cross-Sectional Studie, Female, Human, Magnetic Resonance Imaging, Male, Middle Aged, Myositis Ossifican, Young Adult, Mutation, Missense |
| الوصف: | Background Fibrodysplasia ossificans progressiva is an autosomal dominant disorder due to germline mutations of ACVR1/ALK2 causing progressive heterotopic endochondral ossifications. Evidence of central nervous system involvement has emerged only recently. Methods We performed an observational crosssectional brain MRI study in 13 patients (8 females, mean age 20 years), examining the relationship of clinical and neuroradiological findings. Results All patients presented small asymptomatic lesions similar to hamartomas at the level of the dorsal medulla and ventral pons, associated with minor brainstem dysmorphisms and abnormal origin of the vestibulocochlear and facial nerves. The size of the brainstem lesions did not correlate with patient’s age (p=0.061), age at first flare-up (p=0.733), severity of disability ( p=0.194), history of head trauma ( p=0.415) or hearing loss (p=0.237). The radiologic features and the absence of neurological symptoms were consistent with a benign process. Variable signal abnormalities and/or calcifications of the dentate nuclei were noted in all patients, while basal ganglia abnormalities were present in nine subjects. Brain calcifications positively correlated with patient’s age ( p<0.001) and severity of disability ( p=0.002). Conclusions Our data support the hypothesis that the effects of mutation of the ACVR1/ALK2 gene are extended to the central nervous system. Brainstem hamartomatous lesions and dysmorphisms, variably associated with dentate nucleus and basal ganglia signal abnormalities and/or calcifications, may represent useful disease hallmarks. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/27565519; info:eu-repo/semantics/altIdentifier/wos/WOS:000391457200011; volume:53; firstpage:859; lastpage:864; numberofpages:6; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11567/858693Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84984622427 |
| DOI: | 10.1136/jmedgenet-2016-104076 |
| الإتاحة: | https://doi.org/10.1136/jmedgenet-2016-104076Test http://hdl.handle.net/11567/858693Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.D5BAC016 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1136/jmedgenet-2016-104076 |
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