Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: a case report (114 views)
Acta Myol (ISSN: 1128-2460linking), 2020 Mar 1; 39(1): 29-31.
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Paper type: Case Reports,
Impact factor: 1.13, 5-year impact factor: 0
Url: Not available.
Keywords: Autoimmunity, Central Nervous System, Myopathy,
Affiliations:
*** IBB - CNR ***
Department of Neurosciences, Odontostomatology and Reproductive Sciences, University "Federico II", Naples, Italy.
Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.
References:
Not available.
Acta Myol (ISSN: 1128-2460linking), 2020 Mar 1; 39(1): 29-31.
Export to BibTeX Export to EndNote
Paper type: Case Reports,
Impact factor: 1.13, 5-year impact factor: 0
Url: Not available.
Keywords: Autoimmunity, Central Nervous System, Myopathy,
Affiliations:
*** IBB - CNR ***
Department of Neurosciences, Odontostomatology and Reproductive Sciences, University "Federico II", Naples, Italy.
Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.
References:
Not available.
Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: a case report
Facioscapulohumeral muscular dystrophy 1 (FSHD1) is an autosomal dominant neuromuscular disorder, associated with reduction of tandemly arrayed repetitive DNA elements D4Z4 (DRA), at 4q35. Few cases, especially carriers of 1-3 DRA show a syndromic form. Anecdotally the association of FSHD with multiple sclerosis (MS) is reported. Herein we report a 33 years old Caucasian with a molecular diagnosis of FSHD1 with classical phenotype (clinical category A2) and concomitant white matter lesions suggestive of MS. White matter lesions in patients with FSHD have often been described but rarely investigated in order to evaluate a possible diagnosis of MS. We think that MS and FSHD remain clearly distinct diseases, but growing evidences show a widespread and variable activation of the immune system in patients suffering from FSHD probably an hypotheses on a potential common pathogenetic mechanism between these two disorders could should be better investigated.
Facioscapulohumeral muscular dystrophy 1 (FSHD1) is an autosomal dominant neuromuscular disorder, associated with reduction of tandemly arrayed repetitive DNA elements D4Z4 (DRA), at 4q35. Few cases, especially carriers of 1-3 DRA show a syndromic form. Anecdotally the association of FSHD with multiple sclerosis (MS) is reported. Herein we report a 33 years old Caucasian with a molecular diagnosis of FSHD1 with classical phenotype (clinical category A2) and concomitant white matter lesions suggestive of MS. White matter lesions in patients with FSHD have often been described but rarely investigated in order to evaluate a possible diagnosis of MS. We think that MS and FSHD remain clearly distinct diseases, but growing evidences show a widespread and variable activation of the immune system in patients suffering from FSHD probably an hypotheses on a potential common pathogenetic mechanism between these two disorders could should be better investigated.
Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: a case report
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Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: a case report
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View Export to BibTeX Export to EndNote
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Impact Factor: 2.474
View Export to BibTeX Export to EndNote
Amorosi S, Vigliano I, Del Giudice E, Panico L, Maruotti GM, Fusco A, Quarantelli M, Ciccone C, Ursini MV, Martinelli P, Pignata C
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View Export to BibTeX Export to EndNote
Calabrese V, Cornelius C, Rizzarelli E, Owen JB, Dinkova-Kostova AT, Butterfield DA
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Impact Factor: 7.581
View Export to BibTeX Export to EndNote
De Simone G, Scozzafava A, Supuran CT
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Chem Biol Drug Des (ISSN: 1747-0277, 1747-0285), 2009 Sep; 74(3): 317-321.
Impact Factor: 2.473
View Export to BibTeX Export to EndNote
Francalanci F, Avolio M, De Luca E, Longo DL, Menchise V, Guazzi P, Sgro F, Marino M, Goitre L, Balzac F, Trabalzini L, Retta SF
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Impact Factor: 3.589
View Export to BibTeX Export to EndNote
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Impact Factor: 4.132
View Export to BibTeX Export to EndNote
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Impact Factor: 24.52
View Export to BibTeX Export to EndNote
Pappata S
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Impact Factor: 3.857
View Export to BibTeX Export to EndNote
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View Export to BibTeX Export to EndNote
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View Export to BibTeX Export to EndNote
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Premature aging in Werner's syndrome spares the central nervous system (978 views) (PDF 237 views)
Neurobiol Aging (ISSN: 0197-4580, 1558-1497electronic, 0197-4580linking), 1996 May; 17(3): 325-330.
Impact Factor: 2.872
View Export to BibTeX Export to EndNote
Manna R, Salvatore M, Di Leo MA, Scuderi F, Greco AV, Ghirlanda G, Gambassi G
Relationship between urinary neopterin excretion and islet cell antibodies in type 1 (insulin-dependent) diabetes (660 views)
Diabetes Res (ISSN: 0265-5985), 1991 May; 17(1): 33-36.
Impact Factor: 0
View Export to BibTeX Export to EndNote
Iannotti F, Fieschi C, Alfano B, Picozzi P, Mansi L, Pozzilli C, Punzo A, Del Vecchio G, Lenzi GL, Salvatore M
Simplified, noninvasive PET measurement of blood-brain barrier permeability (711 views)
J Comput Assisted Tomogr (ISSN: 0363-8715), 1987 May; 11(3): 390-397.
Impact Factor: 1.263
View Export to BibTeX Export to EndNote
24 Records (22 excluding Abstracts).
Total impact factor: 105.863 (96.312 excluding Abstracts).
Total 5 year impact factor: 118.26 (107.882 excluding Abstracts).
Total impact factor: 105.863 (96.312 excluding Abstracts).
Total 5 year impact factor: 118.26 (107.882 excluding Abstracts).
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