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[PMID]:28469099
[Au] Autor:Lu YY; Lyu H; Jin SQ; Zuo YH; Liu J; Wang ZX; Zhang W; Yuan Y
[Ad] Endereço:Department of Neurology, Peking University First Hospital, Beijing 100034, China.
[Ti] Título:Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.
[So] Source:Chin Med J (Engl);130(9):1049-1054, 2017 May 05.
[Is] ISSN:0366-6999
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical and genetic features of a series of Chinese patients with GJB1 gene mutations. METHODS: A total of 22 patients from unrelated families, who were referred to Department of Neurology, Peking University First Hospital from January 2005 to January 2016, were identified with GJB1 mutations. Their clinical records and laboratory findings were retrospectively collected and reviewed. Mutations in the GJB1 gene were analyzed by targeted next-generation sequencing (NGS). Nucleotide alternations were confirmed with Sanger sequencing. RESULTS: The CMT1X patients predominantly showed distal muscle weakness of lower limbs with mild sensory disturbance. The mean age of onset was 15.6 ± 8.7 years (ranging from 1 year to 42 years). The sudden onset of cerebral symptoms appeared in four patients (18.2%); two were initial symptoms. One case had constant central nervous system (CNS) signs. There were 19 different heterozygous mutations, including 15 known mutations and four novel mutations (c.115G>T, c.380T>A, c.263C>A, and c.818_819insGGGCT). Among the 22 Chinese patients with CMT1X, the frequency of the GJB1 mutation was 4.5% in transmembrane domain 1 (TM1), 4.5% in TM2, 22.7% in TM3, 9.1% in TM4, 4.5% in extracellular 1 (EC1), 27.3% in EC2, 9.1% in intracellular loop, 13.6% in the N-terminal domain, and 4.5% in the C-terminal domain. CMT1X with CNS impairment appeared in five (22.7%) of these patients. CONCLUSIONS: This study indicated that CNS impairment was not rare in Chinese CMT1X patients. Mutations in the EC2 domain of the GJB1 gene were hotspot in Chinese CMT1X patients.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/genética
Conexinas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sistema Nervoso Central/metabolismo
Doença de Charcot-Marie-Tooth/patologia
Criança
Pré-Escolar
Análise Mutacional de DNA
Eletrofisiologia
Feminino
Genótipo
Seres Humanos
Lactente
Masculino
Mutação
Fenótipo
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Connexins); 0 (connexin 32)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.4103/0366-6999.204925


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[PMID]:29245364
[Au] Autor:Kim JK; Han SA; Kim SJ
[Ad] Endereço:Department of Pediatrics, Chonbuk National University School of Medicine, Jeonju, Korea.
[Ti] Título:X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.
[So] Source:Medicine (Baltimore);96(49):e9176, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Charcot-Marie-Tooth disease (CMT) is typically an autosomal dominant, inherited neuropathy, although there is a rare male X-linked CMT. Such patients show central nervous system (CNS) involvement in addition to peripheral neuropathy. Recently, we encountered a patient who presented with acute disseminated encephalomyelitis (ADEM)-like symptoms, but was later diagnosed as having X-linked CMT (CMTX) due to a mutation. PATIENT CONCERNS: A previously healthy 11-year-old boy was admitted for a sudden transient weakness of his left side extremities. DIAGNOSES: The patient was diagnosed with left side hemiparesis. Brain magnetic resonance imaging (MRI) showed ADEM-like demyelinating lesions on both centrum semiovale. A diagnosis of probable ADEM was made, and the patient soon recovered. After 4 months, a second MRI showed complete resolution of the brain lesions. However, the symptoms recurred 2 years later. A third MRI revealed white matter abnormalities, and a physical examination demonstrated pes cavus deformities and peripheral muscle wasting of both lower extremities. INTERVENTIONS: On the basis of the brain MRI lesions and physical findings, we suspected CMTX. Genotyping confirmed a mutation in the GJB1 gene. OUTCOMES: When the symptoms recurred 2 years later, dysarthria and demyelinating MRI lesions were present. We could not identify any triggering factors. LESSONS: Differential diagnosis of recurrent ADEM-like lesions in the cerebral white matter and peripheral neuropathy should include the possibility of CMTX disease.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/diagnóstico
Doença de Charcot-Marie-Tooth/genética
Conexinas/genética
[Mh] Termos MeSH secundário: Encéfalo/diagnóstico por imagem
Encéfalo/patologia
Doença de Charcot-Marie-Tooth/fisiopatologia
Criança
Diagnóstico Diferencial
Encefalomielite Aguda Disseminada/diagnóstico
Seres Humanos
Imagem por Ressonância Magnética
Masculino
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Connexins); 0 (connexin 32)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180105
[Lr] Data última revisão:
180105
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171217
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009176


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[PMID]:28860329
[Au] Autor:Fledrich R; Mannil M; Leha A; Ehbrecht C; Solari A; Pelayo-Negro AL; Berciano J; Schlotter-Weigel B; Schnizer TJ; Prukop T; Garcia-Angarita N; Czesnik D; Haberlová J; Mazanec R; Paulus W; Beissbarth T; Walter MC; Triaal C; Hogrel JY; Dubourg O; Schenone A; Baets J; De Jonghe P; Shy ME; Horvath R; Pareyson D; Seeman P; Young P; Sereda MW
[Ad] Endereço:Department of Clinical Neurophysiology, University Medical Center Göttingen (UMG), Göttingen, Germany.
[Ti] Título:Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.
[So] Source:J Neurol Neurosurg Psychiatry;88(11):941-952, 2017 Nov.
[Is] ISSN:1468-330X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for the development of new therapies. Hence, there is a strong need for sensitive outcome measures such as disease and progression biomarkers, which would add powerful tools to monitor therapeutic effects in CMT1A. METHODS: We established a pan-European and American consortium comprising nine clinical centres including 311 patients with CMT1A in total. From all patients, the CMT neuropathy score and secondary outcome measures were obtained and a skin biopsy collected. In order to assess and validate disease severity and progression biomarkers, we performed qPCR on a set of 16 animal model-derived potential biomarkers in skin biopsy mRNA extracts. RESULTS: In 266 patients with CMT1A, a cluster of eight cutaneous transcripts differentiates disease severity with a sensitivity and specificity of 90% and 76.1%, respectively. In an additional cohort of 45 patients with CMT1A, from whom a second skin biopsy was taken after 2-3 years, the cutaneous mRNA expression of GSTT2, CTSA, PPARG, CDA, ENPP1 and NRG1-Iis changing over time and correlates with disease progression. CONCLUSIONS: In summary, we provide evidence that cutaneous transcripts in patients with CMT1A serve as disease severity and progression biomarkers and, if implemented into clinical trials, they could markedly accelerate the development of a therapy for CMT1A.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/terapia
Progressão da Doença
Marcadores Genéticos/genética
Pele/patologia
Resultado do Tratamento
[Mh] Termos MeSH secundário: Adulto
Idoso
Biópsia
Catepsina A/genética
Doença de Charcot-Marie-Tooth/sangue
Doença de Charcot-Marie-Tooth/genética
Feminino
Glutationa Transferase/genética
Glicoproteínas/genética
Seres Humanos
Masculino
Meia-Idade
Neuregulina-1/genética
PPAR gama/genética
Diester Fosfórico Hidrolases/genética
Prognóstico
Pirofosfatases/genética
RNA Mensageiro/genética
Reação em Cadeia da Polimerase em Tempo Real
Transcrição Genética/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CDAN1 protein, human); 0 (Genetic Markers); 0 (Glycoproteins); 0 (NRG1 protein, human); 0 (Neuregulin-1); 0 (PPAR gamma); 0 (RNA, Messenger); EC 2.5.1.- (GSTT2 protein, human); EC 2.5.1.18 (Glutathione Transferase); EC 3.1.4.- (Phosphoric Diester Hydrolases); EC 3.1.4.1 (ectonucleotide pyrophosphatase phosphodiesterase 1); EC 3.4.16.5 (CTSA protein, human); EC 3.4.16.5 (Cathepsin A); EC 3.6.1.- (Pyrophosphatases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171114
[Lr] Data última revisão:
171114
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170902
[St] Status:MEDLINE
[do] DOI:10.1136/jnnp-2017-315721


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[PMID]:28859335
[Au] Autor:Gentil BJ; O'Ferrall E; Chalk C; Santana LF; Durham HD; Massie R
[Ad] Endereço:Department of Neurology and Neurosurgery & Montreal Neurological Institute, McGill University, Quebec, Canada; and Department of Physiology & Biophysics and Howard Hughes Medical Institute, Department of Pharmacology, University of Washington, Seattle, Washington.
[Ti] Título:A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.
[So] Source:J Neuropathol Exp Neurol;76(9):789-799, 2017 Sep 01.
[Is] ISSN:1554-6578
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mutations in FIG4, coding for a phosphoinositol(3,5) bisphosphate 5' phosphatase and involved in vesicular trafficking and fusion, have been shown causing a recessive form of Charcot-Marie-Tooth (CMT). We have identified a novel intronic mutation in the FIG4 in a wheel-chair bound patient presenting with a severe form of CMT4J and provide a longitudinal study. Investigations indicated a demyelinating sensorimotor polyneuropathy with diffuse active denervation and severe axonal loss. Genetic testing revealed that the patient is heterozygous for 2 FIG4 mutations, p.I41T and a T > G transversion at IVS17-10, the latter predicted to cause a splicing defect. FIG4 was severely diminished in patient's fibroblasts indicating loss-of-function. Consistent with FIG4's function in phosphoinositol homeostasis and vesicular trafficking, fibroblasts contained multiple large vacuoles and vesicular organelles were abnormally dispersed. FIG4 deficiency has implications for turnover of membrane proteins. The transient receptor cation channel, TRPV4, accumulated at the plasma membrane of patient's fibroblasts due to slow turnover. Knocking down Fig4 in murine cultured motor neurons resulted in vacuolation and cell death. Inhibiting TRPV4 activity significantly preserved viability, although not correcting vesicular trafficking. In conclusion, we demonstrate a new FIG4 intronic mutation and, importantly, a functional interaction between FIG4 and TRPV4.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/genética
Flavoproteínas/genética
Mutação/genética
Monoéster Fosfórico Hidrolases/genética
Canais de Cátion TRPV/metabolismo
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Doença de Charcot-Marie-Tooth/patologia
Doença de Charcot-Marie-Tooth/fisiopatologia
Repetições Palindrômicas Curtas Agrupadas e Regularmente Espaçadas/genética
Fibroblastos/metabolismo
Fibroblastos/patologia
Regulação da Expressão Gênica/genética
Proteínas de Fluorescência Verde/farmacologia
Seres Humanos
Masculino
Camundongos
Microscopia Confocal
Meia-Idade
Neurônios/metabolismo
Fosfatos de Fosfatidilinositol/metabolismo
Pele/patologia
Medula Espinal/citologia
Transfecção
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Flavoproteins); 0 (Phosphatidylinositol Phosphates); 0 (TRPV Cation Channels); 0 (TRPV4 protein, human); 0 (enhanced green fluorescent protein); 0 (phosphatidylinositol 3,5-diphosphate); 147336-22-9 (Green Fluorescent Proteins); EC 3.1.3.- (FIG4 protein, human); EC 3.1.3.2 (Phosphoric Monoester Hydrolases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170902
[St] Status:MEDLINE
[do] DOI:10.1093/jnen/nlx062


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[PMID]:28855494
[Au] Autor:Fujisawa M; Sano Y; Omoto M; Ogasawara JI; Koga M; Takashima H; Kanda T
[Ad] Endereço:Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medical Science.
[Ti] Título:Charcot-Marie-Tooth disease type 2 caused by homozygous MME gene mutation superimposed by chronic inflammatory demyelinating polyneuropathy.
[So] Source:Rinsho Shinkeigaku;57(9):515-520, 2017 09 30.
[Is] ISSN:1882-0654
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:We report a 59-year-old Japanese male who developed gradually worsening weakness and numbness of distal four extremities since age 50. His parents were first cousins, and blood and cerebral spinal examinations were unremarkable. Homozygous mutation of MME gene was detected and thus he was diagnosed as autosomal-recessive Charcot-Marie-Tooth disease 2T (AR-CMT2T); however, electrophysiological examinations revealed scattered demyelinative changes including elongated terminal latency in several peripheral nerve trunks. Sural nerve biopsy showed endoneurial edema and a lot of thinly myelinated nerve fibers with uneven distribution of remnant myelinated fibers within and between fascicles. Immunoglobulin treatment was initiated considering the possibility of superimposed inflammation and demyelination, and immediate clinical as well as electrophysiological improvements were noted. Our findings indicate that AR-CMT2T caused by MME mutation predisposes to a superimposed inflammatory demyelinating neuropathy. This is the first report which documented the co-existence of CMT2 and chronic inflammatory demyelinating polyneuropathy (CIDP); however, in the peripheral nervous system, neprilysin, a product of MME gene, is more abundant in myelin sheath than in axonal component. The fragility of myelin sheath due to mutated neprilysin may trigger the detrimental immune response against peripheral myelin in this patient.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/complicações
Doença de Charcot-Marie-Tooth/genética
Estudos de Associação Genética
Mutação
Neprilisina/genética
Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/complicações
[Mh] Termos MeSH secundário: Doença de Charcot-Marie-Tooth/diagnóstico
Doença de Charcot-Marie-Tooth/terapia
Homozigoto
Seres Humanos
Imunoglobulinas Intravenosas/administração & dosagem
Masculino
Meia-Idade
Bainha de Mielina/enzimologia
Bainha de Mielina/imunologia
Neprilisina/metabolismo
Condução Nervosa
Nervos Periféricos/patologia
Nervos Periféricos/fisiopatologia
Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico
Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/terapia
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Immunoglobulins, Intravenous); EC 3.4.24.11 (Neprilysin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.5692/clinicalneurol.cn-001036


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[PMID]:28797631
[Au] Autor:Heilman PL; Song S; Miranda CJ; Meyer K; Srivastava AK; Knapp A; Wier CG; Kaspar BK; Kolb SJ
[Ad] Endereço:Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, United States.
[Ti] Título:HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.
[So] Source:Exp Neurol;297:101-109, 2017 Nov.
[Is] ISSN:1090-2430
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Heat shock protein beta-1 (HSPB1), is a ubiquitously expressed, multifunctional protein chaperone. Mutations in HSPB1 result in the development of a late-onset, distal hereditary motor neuropathy type II (dHMN) and axonal Charcot-Marie Tooth disease with sensory involvement (CMT2F). The functional consequences of HSPB1 mutations associated with hereditary neuropathy are unknown. HSPB1 also displays neuroprotective properties in many neuronal disease models, including the motor neuron disease amyotrophic lateral sclerosis (ALS). HSPB1 is upregulated in SOD1-ALS animal models during disease progression, predominately in glial cells. Glial cells are known to contribute to motor neuron loss in ALS through a non-cell autonomous mechanism. In this study, we examined the non-cell autonomous role of wild type and mutant HSPB1 in an astrocyte-motor neuron co-culture model system of ALS. Astrocyte-specific overexpression of wild type HSPB1 was sufficient to attenuate SOD1(G93A) astrocyte-mediated toxicity in motor neurons, whereas, overexpression of mutHSPB1 failed to ameliorate motor neuron toxicity. Expression of a phosphomimetic HSPB1 mutant in SOD1(G93A) astrocytes also reduced toxicity to motor neurons, suggesting that phosphorylation may contribute to HSPB1 mediated-neuroprotection. These data provide evidence that astrocytic HSPB1 expression may play a central role in motor neuron health and maintenance.
[Mh] Termos MeSH primário: Astrócitos/fisiologia
Doença de Charcot-Marie-Tooth/genética
Proteínas de Choque Térmico/genética
Neurônios Motores/fisiologia
Mutação/genética
Proteínas de Neoplasias/genética
Neuroglia/fisiologia
[Mh] Termos MeSH secundário: Animais
Astrócitos/patologia
Sobrevivência Celular/fisiologia
Doença de Charcot-Marie-Tooth/patologia
Técnicas de Cocultura
Seres Humanos
Camundongos
Camundongos Transgênicos
Neurônios Motores/patologia
Neuroglia/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Heat-Shock Proteins); 0 (Hspb1 protein, mouse); 0 (Neoplasm Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171005
[Lr] Data última revisão:
171005
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170812
[St] Status:MEDLINE


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[PMID]:28796392
[Au] Autor:Cornett KMD; Menezes MP; Shy RR; Moroni I; Pagliano E; Pareyson D; Estilow T; Yum SW; Bhandari T; Muntoni F; Laura M; Reilly MM; Finkel RS; Eichinger KJ; Herrmann DN; Bray P; Halaki M; Shy ME; Burns J; CMTPedS Study Group
[Ad] Endereço:The University of Sydney, Sydney Children's Hospitals Network (Randwick and Westmead, Sydney, New South Wales, Australia.
[Ti] Título:Natural history of Charcot-Marie-Tooth disease during childhood.
[So] Source:Ann Neurol;82(3):353-359, 2017 Sep.
[Is] ISSN:1531-8249
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine the rate of disease progression in a longitudinal natural history study of children with Charcot-Marie-Tooth (CMT) disease. METHODS: Two hundred six (103 female) participants aged 3 to 20 years enrolled in the Inherited Neuropathies Consortium were assessed at baseline and 2 years. Demographic, anthropometric, and diagnostic information were collected. Disease progression was assessed with the CMT Pediatric Scale (CMTPedS), a reliable Rasch-built linearly weighted disability scale evaluating fine and gross motor function, strength, sensation, and balance. RESULTS: On average, CMTPedS Total scores progressed at a rate of 2.4 ± 4.9 over 2 years (14% change from baseline; p < 0.001). There was no difference between males and females (mean difference, 0.5; 95% confidence interval [CI], -0.9 to 1.9; p = 0.49). The most responsive CMTPedS items were dorsiflexion strength (z-score change, -0.3; 95% CI, -0.6 to -0.05; p = 0.02), balance (z-score change, -1.0; 95% CI, -1.9 to -0.09; p = 0.03), and long jump (z-score change, -0.4; 95% CI, -0.7 to -0.02; p = 0.04). Of the most common genetic subtypes, 111 participants with CMT1A/PMP22 duplication progressed by 1.8 ± 4.2 (12% change from baseline; p < 0.001), 9 participants with CMT1B/MPZ mutation progressed by 2.2 ± 5.1 (11% change), 6 participants with CMT2A/MFN2 mutation progressed by 6.2 ± 7.9 (23% change), and 7 participants with CMT4C/SH3TC2 mutations progressed by 3.0 ± 4.5 (12% change). Participants with CMT2A progressed faster than CMT1A (mean difference, -4.4; 95% CI, -8.1 to -0.8; p = 0.02). Children with CMT1A progressed consistently through early childhood (3-10 years) and adolescence (11-20 years; mean difference, 1.1; 95% CI, -0.6 to 2.7; p = 0.19), whereas CMT2A appeared to progress faster during early childhood than adolescence (mean difference, 10.0; 95% CI, -2.2 to 22.2; p = 0.08). INTERPRETATION: Using the CMTPedS as an outcome measure of disease severity, children with CMT progress at a significant rate over 2 years. Understanding the rate at which children with CMT deteriorate is essential for adequately powering trials of disease-modifying interventions. Ann Neurol 2017;82:353-359.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/patologia
[Mh] Termos MeSH secundário: Adolescente
Doença de Charcot-Marie-Tooth/genética
Criança
Pré-Escolar
Progressão da Doença
Feminino
Seres Humanos
Estudos Longitudinais
Masculino
Mutação
Proteínas da Mielina/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Myelin Proteins); 0 (PMP22 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171002
[Lr] Data última revisão:
171002
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170811
[St] Status:MEDLINE
[do] DOI:10.1002/ana.25009


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[PMID]:28768847
[Au] Autor:Panosyan FB; Laura M; Rossor AM; Pisciotta C; Piscosquito G; Burns J; Li J; Yum SW; Lewis RA; Day J; Horvath R; Herrmann DN; Shy ME; Pareyson D; Reilly MM; Scherer SS; Inherited Neuropathies Consortium­Rare Diseases Clinical Research Network (INC-RDCRN)
[Ad] Endereço:From the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neuroscie
[Ti] Título:Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
[So] Source:Neurology;89(9):927-935, 2017 Aug 29.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in cause the main X-linked form of CMTX (CMTX1). We report cross-sectional data from 160 patients (from 120 different families, with 89 different mutations) seen at the Inherited Neuropathies Consortium centers. RESULTS: We evaluated 87 males who had a mean age of 41 years (range 10-78 years) and 73 females who had a mean age of 46 years (range 15-84 years). Sensory-motor polyneuropathy affects both sexes, more severely in males than in females, and there was a strong correlation between age and disease burden in males but not in females. Compared with females, males had more severe reduction in motor and sensory neurophysiology parameters. In contrast to females, the radial nerve sensory response in older males tended to be more severely affected compared with younger males. Median and ulnar nerve motor amplitudes were also more severely affected in older males, whereas ulnar nerve motor potentials tended to be more affected in older females. Conversely, there were no statistical differences between the sexes in other features of the disease, such as problems with balance and hand dexterity. CONCLUSIONS: In the absence of a phenotypic correlation with specific mutations, sex-specific distinctions and clinically relevant attributes need to be incorporated into the measurements for clinical trials in people with CMTX1. CLINICALTRIALSGOV IDENTIFIER: NCT01193075.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/genética
Doença de Charcot-Marie-Tooth/fisiopatologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Sequência de Aminoácidos
Criança
Conexinas/genética
Estudos Transversais
Família
Feminino
Estudos de Associação Genética
Técnicas de Genotipagem
Seres Humanos
Masculino
Meia-Idade
Mutação
Condução Nervosa/fisiologia
Fenótipo
Caracteres Sexuais
Adulto Jovem
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Connexins); 0 (connexin 32)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170804
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004296


  9 / 3313 MEDLINE  
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[PMID]:28654681
[Au] Autor:Zhao J; Brown K; Liem RKH
[Ad] Endereço:Department of Pathology and Cell Biology, Columbia University College of Physicians & Surgeons, New York, New York, United States of America.
[Ti] Título:Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse model.
[So] Source:PLoS One;12(6):e0180038, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy is the most prevalent inherited peripheral neuropathy and is associated with over 90 causative genes. Mutations in neurofilament light polypeptide gene, NEFL cause CMT2E, an axonal form of CMT that results in abnormal structures and/or functions of peripheral axons in spinal cord motor neurons and dorsal root ganglion neurons. We have previously generated and characterized a knock-in mouse model of CMT2E with the N98S mutation in Nefl that presented with multiple inclusions in spinal cord neurons. In this report, we conduct immunofluorescence studies of cultured dorsal root ganglia (DRG) from NeflN98S/+ mice, and show that inclusions found in DRG neurites can occur in embryonic stages. Ultrastructural analyses reveal that the inclusions are disordered neurofilaments packed in high density, segregated from other organelles. Immunochemical studies show decreased NFL protein levels in DRG, cerebellum and spinal cord in NeflN98S/+ mice, and total NFL protein pool is shifted toward the triton-insoluble fraction. Our findings reveal the nature of the inclusions in NeflN98S/+ mice, provide useful information to understand mechanisms of CMT2E disease, and identify DRG from NeflN98S/+ mice as a useful cell line model for therapeutic discoveries.
[Mh] Termos MeSH primário: Doença de Charcot-Marie-Tooth/patologia
Gânglios Espinais/patologia
Corpos de Inclusão/patologia
Filamentos Intermediários/patologia
[Mh] Termos MeSH secundário: Animais
Axônios/metabolismo
Cerebelo/metabolismo
Cerebelo/patologia
Doença de Charcot-Marie-Tooth/metabolismo
Modelos Animais de Doenças
Gânglios Espinais/metabolismo
Gânglios Espinais/ultraestrutura
Corpos de Inclusão/metabolismo
Corpos de Inclusão/ultraestrutura
Filamentos Intermediários/metabolismo
Filamentos Intermediários/ultraestrutura
Camundongos
Proteínas de Neurofilamentos/metabolismo
Medula Espinal/metabolismo
Medula Espinal/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Neurofilament Proteins); 0 (neurofilament protein L)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170628
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180038


  10 / 3313 MEDLINE  
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[PMID]:28633435
[Au] Autor:Ylikallio E; Woldegebriel R; Tumiati M; Isohanni P; Ryan MM; Stark Z; Walsh M; Sawyer SL; Bell KM; Oshlack A; Lockhart PJ; Shcherbii M; Estrada-Cuzcano A; Atkinson D; Hartley T; Tetreault M; Cuppen I; van der Pol WL; Candayan A; Battaloglu E; Parman Y; van Gassen KLI; van den Boogaard MH; Boycott KM; Kauppi L; Jordanova A; Lönnqvist T; Tyynismaa H
[Ad] Endereço:Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland.
[Ti] Título:MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
[So] Source:Brain;140(8):2093-2103, 2017 Aug 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild to moderate intellectual disability was present in seven of nine affected individuals. The affected individuals were either compound heterozygous or homozygous for different MCM3AP variants, which were predicted to cause depletion of GANP or affect conserved amino acids with likely importance for its function. Accordingly, fibroblasts of affected individuals from one family demonstrated severe depletion of GANP. GANP has been described to function as an mRNA export factor, and to suppress TDP-43-mediated motor neuron degeneration in flies. Thus our results suggest defective mRNA export from nucleus as a potential pathogenic mechanism of axonal degeneration in these patients. The identification of MCM3AP variants in affected individuals from multiple centres establishes it as a disease gene for childhood-onset recessively inherited Charcot-Marie-Tooth neuropathy with intellectual disability.
[Mh] Termos MeSH primário: Acetiltransferases/genética
Doença de Charcot-Marie-Tooth/genética
Predisposição Genética para Doença/genética
Deficiência Intelectual/genética
Peptídeos e Proteínas de Sinalização Intracelular/genética
[Mh] Termos MeSH secundário: Acetiltransferases/metabolismo
Adolescente
Adulto
Células Cultivadas
Doença de Charcot-Marie-Tooth/complicações
Criança
Pré-Escolar
Feminino
Fibroblastos/metabolismo
Seres Humanos
Deficiência Intelectual/complicações
Peptídeos e Proteínas de Sinalização Intracelular/metabolismo
Masculino
Mutação
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Intracellular Signaling Peptides and Proteins); EC 2.3.1.- (Acetyltransferases); EC 2.3.1.- (MCM3AP protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170921
[Lr] Data última revisão:
170921
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170622
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx138



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