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[PMID]:29383373
[Au] Autor:Muth CC
[Ti] Título:ASO Therapy: Hope for Genetic Neurological Diseases.
[So] Source:JAMA;319(7):644-646, 2018 Feb 20.
[Is] ISSN:1538-3598
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Atrofia Muscular Espinal/tratamento farmacológico
Doenças Neurodegenerativas/tratamento farmacológico
Oligonucleotídeos Antissenso/uso terapêutico
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Seres Humanos
Camundongos
Atrofia Muscular Espinal/genética
Distrofia Muscular de Duchenne/tratamento farmacológico
Distrofia Muscular de Duchenne/genética
Mutação
Doenças Neurodegenerativas/genética
Ataxias Espinocerebelares/tratamento farmacológico
[Pt] Tipo de publicação:NEWS
[Nm] Nome de substância:
0 (Oligonucleotides, Antisense)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180302
[Lr] Data última revisão:
180302
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.18665


  2 / 2894 MEDLINE  
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[PMID]:29390334
[Au] Autor:Lee HD; Chang MC
[Ad] Endereço:Department of Physical Medicine and Rehabilitation, College of Medicine, Yeungnam University, Namku, Daegu, Republic of Korea.
[Ti] Título:Degeneration of the corticofugal tract from the secondary motor area in a Parkinson's disease patient with limb-kinetic apraxia: A case report.
[So] Source:Medicine (Baltimore);96(50):e9195, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: In this case report, we describe a Parkinson's disease (PD) patient with limb-kinetic apraxia (LKA) in whom degeneration of the corticofugal tract (CFT) from the supplementary motor area (SMA) was observed in diffusion tensor tractography (DTT). PATIENT CONCERNS: A 63-year-old woman presented with a loss of dexterity in both upper extremities, which indicated LKA, and typical PD-related symptoms, including a gait disturbance with a short step, resting tremor in both upper extremities, and rigidity, and these symptoms had been present for 2 years. The F-florinated-N-3-fluoropropyl-2-ß-carboxymethoxy-3-ß-(4-lodophenyl) nortropane positron emission tomography scanning findings were consistent with PD. Based on the clinical symptoms and imaging findings, we diagnosed the patient with PD. In a coin-rotation test that was used to evaluate the severity of the LKA, the patient's results significantly decreased compared to the results of the normal controls. DIAGNOSES: The DTT showed that the CFTs from the SMAs in both hemispheres were partially torn and thinned. The fractional anisotropy values and CFT volumes in both SMAs were >2 standard deviations lower than those of the normal controls. INTERVENTIONS: The patient was treated with an initial dose of 150/37.5 mg/day of levodopa/benserazide, and the dose was gradually increased to 400/100 mg/day. OUTCOMES: After treatment, although the bradykinesia, rigidity, and resting tremor of the patient significantly decreased, the dexterity of the patient's hands did not improve. LESSONS: These observations indicated degeneration of the CFTs from the SMAs in both hemispheres in the patient. This degeneration might have, at least in part, contributed to the patient's LKA. The results of this study suggest that CFT degeneration could be one of the pathological mechanisms underlying LKA in patients with PD.
[Mh] Termos MeSH primário: Córtex Motor/patologia
Doença de Parkinson/patologia
[Mh] Termos MeSH secundário: Anisotropia
Antiparkinsonianos/uso terapêutico
Benserazida/uso terapêutico
Imagem de Tensor de Difusão
Combinação de Medicamentos
Feminino
Seres Humanos
Levodopa/uso terapêutico
Meia-Idade
Córtex Motor/diagnóstico por imagem
Rigidez Muscular/diagnóstico por imagem
Rigidez Muscular/tratamento farmacológico
Rigidez Muscular/patologia
Atrofia Muscular Espinal/diagnóstico por imagem
Atrofia Muscular Espinal/tratamento farmacológico
Atrofia Muscular Espinal/patologia
Doença de Parkinson/diagnóstico por imagem
Doença de Parkinson/tratamento farmacológico
Tomografia por Emissão de Pósitrons
Tremor/diagnóstico por imagem
Tremor/tratamento farmacológico
Tremor/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antiparkinson Agents); 0 (Drug Combinations); 0 (benserazide, levodopa drug combination); 46627O600J (Levodopa); 762OS3ZEJU (Benserazide)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009195


  3 / 2894 MEDLINE  
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[PMID]:28460014
[Au] Autor:Wu X; Wang SH; Sun J; Krainer AR; Hua Y; Prior TW
[Ad] Endereço:Jiangsu Key Laboratory of Translational Research and Therapy for Neuro-Psycho-Diseases, The Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215004, China.
[Ti] Título:A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy.
[So] Source:Hum Mol Genet;26(14):2768-2780, 2017 07 15.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Spinal muscular atrophy (SMA) is a neuromuscular disease caused by reduced expression of survival of motor neuron (SMN), a protein expressed in humans by two paralogous genes, SMN1 and SMN2. These genes are nearly identical, except for 10 single-nucleotide differences and a 5-nucleotide insertion in SMN2. SMA is subdivided into four main types, with type I being the most severe. SMN2 copy number is a key positive modifier of the disease, but it is not always inversely correlated with clinical severity. We previously reported the c.859G > C variant in SMN2 exon 7 as a positive modifier in several patients. We have now identified A-44G as an additional positive disease modifier, present in a group of patients carrying 3 SMN2 copies but displaying milder clinical phenotypes than other patients with the same SMN2 copy number. One of the three SMN2 copies appears to have been converted from SMN1, but except for the C6T transition, no other changes were detected. Analyzed with minigenes, SMN1C6T displayed a ∼20% increase in exon 7 inclusion, compared to SMN2. Through systematic mutagenesis, we found that the improvement in exon 7 splicing is mainly attributable to the A-44G transition in intron 6. Using RNA-affinity chromatography and mass spectrometry, we further uncovered binding of the RNA-binding protein HuR to the -44 region, where it acts as a splicing repressor. The A-44G change markedly decreases the binding affinity of HuR, resulting in a moderate increase in exon 7 inclusion.
[Mh] Termos MeSH primário: Atrofia Muscular Espinal/genética
[Mh] Termos MeSH secundário: Animais
Células COS
Cercopithecus aethiops
Proteína Semelhante a ELAV 1/metabolismo
Éxons
Células HEK293
Células HeLa
Seres Humanos
Íntrons
Atrofia Muscular Espinal/metabolismo
Ligação Proteica
RNA/genética
Motivo de Reconhecimento de RNA
Processamento de RNA
Proteína 1 de Sobrevivência do Neurônio Motor/genética
Proteína 1 de Sobrevivência do Neurônio Motor/metabolismo
Proteína 2 de Sobrevivência do Neurônio Motor/genética
Proteína 2 de Sobrevivência do Neurônio Motor/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (ELAV-Like Protein 1); 0 (ELAVL1 protein, human); 0 (SMN1 protein, human); 0 (SMN2 protein, human); 0 (Survival of Motor Neuron 1 Protein); 0 (Survival of Motor Neuron 2 Protein); 63231-63-0 (RNA)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180225
[Lr] Data última revisão:
180225
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx166


  4 / 2894 MEDLINE  
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[PMID]:28463115
[Au] Autor:O'Hern PJ; do Carmo G Gonçalves I; Brecht J; López Soto EJ; Simon J; Chapkis N; Lipscombe D; Kye MJ; Hart AC
[Ad] Endereço:Department of Neuroscience, Brown University, Providence, United States.
[Ti] Título:Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models.
[So] Source:Elife;6, 2017 05 02.
[Is] ISSN:2050-084X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Spinal Muscular Atrophy (SMA) is caused by diminished Survival of Motor Neuron (SMN) protein, leading to neuromuscular junction (NMJ) dysfunction and spinal motor neuron (MN) loss. Here, we report that reduced SMN function impacts the action of a pertinent microRNA and its mRNA target in MNs. Loss of the SMN ortholog, SMN-1, causes NMJ defects. We found that increased levels of the Gemin3 ortholog, MEL-46, ameliorates these defects. Increased MEL-46 levels also restored perturbed microRNA (miR-2) function in animals. We determined that miR-2 regulates expression of the M2 muscarinic receptor (m2R) ortholog, GAR-2. GAR-2 loss ameliorated and synaptic defects. In an SMA mouse model, m2R levels were increased and pharmacological inhibition of m2R rescued MN process defects. Collectively, these results suggest decreased SMN leads to defective microRNA function MEL-46 misregulation, followed by increased m2R expression, and neuronal dysfunction in SMA.
[Mh] Termos MeSH primário: Proteínas de Caenorhabditis elegans/metabolismo
Caenorhabditis elegans
MicroRNAs/metabolismo
Atrofia Muscular Espinal/fisiopatologia
Receptor Muscarínico M2/análise
Proteína 1 de Sobrevivência do Neurônio Motor/metabolismo
[Mh] Termos MeSH secundário: Animais
RNA Helicases DEAD-box/metabolismo
Modelos Animais de Doenças
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Caenorhabditis elegans Proteins); 0 (MEL-46 protein, C elegans); 0 (MicroRNAs); 0 (Receptor, Muscarinic M2); 0 (SMN1 protein, C elegans); 0 (Survival of Motor Neuron 1 Protein); EC 3.6.4.13 (DEAD-box RNA Helicases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180211
[Lr] Data última revisão:
180211
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE


  5 / 2894 MEDLINE  
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[PMID]:28467402
[Au] Autor:King NMP; Bishop CE
[Ad] Endereço:Department of Social Sciences and Health Policy, Wake Forest School of Medicine, Center for Bioethics Health, and Society and Graduate Program in Bioethics, Wake Forest University, Winston-Salem, NC, USA.
[Ti] Título:New treatments for serious conditions: ethical implications.
[So] Source:Gene Ther;24(9):534-538, 2017 Sep.
[Is] ISSN:1476-5462
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Approval of Spinraza (nusinersen) for treatment of spinal muscular atrophy prompts consideration of a number of ethical issues that arise whenever a new treatment is proposed for a serious condition, especially one that is rare and can devastatingly affect children. Patients, families, clinicians, researchers, institutions and policymakers all must take account of the ways that newly available treatments affect informed and shared decision-making about therapeutic and research options. The issues to consider include: addressing what is still uncertain and unknown; the possibility that potential benefits will be exaggerated and potential harms underemphasized in the media, by advocacy organizations, and in consent forms and processes; the high cost of many novel drugs and biologics; the effects of including conditions of variable phenotype in state-mandated newborn screening panels; and how new treatments can change the standard of care, altering what is and is not known about a disorder and posing challenges for decision-making at both individual and policy levels. The good news that Spinraza brings thus requires additional attention to its ethical and policy implications, to improve counseling and shared decision-making about treatment and research options for patients and all involved in their care.
[Mh] Termos MeSH primário: Terapia Genética/ética
Atrofia Muscular Espinal/terapia
[Mh] Termos MeSH secundário: Custos e Análise de Custo
Terapia Genética/economia
Terapia Genética/legislação & jurisprudência
Terapia Genética/psicologia
Conhecimentos, Atitudes e Prática em Saúde
Seres Humanos
Atrofia Muscular Espinal/genética
Oligonucleotídeos/administração & dosagem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Oligonucleotides); 0 (nusinersen)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1038/gt.2017.32


  6 / 2894 MEDLINE  
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[PMID]:29394306
[Au] Autor:Whittaker HT; Michell-Robinson MA
[Ad] Endereço:McGill University Faculty of Medicine, Montreal, Canada
[Ti] Título:Therapy for Spinal Muscular Atrophy.
[So] Source:N Engl J Med;378(5):487, 2018 02 01.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Atrofia Muscular Espinal
Atrofias Musculares Espinais da Infância
[Mh] Termos MeSH secundário: Seres Humanos
[Pt] Tipo de publicação:LETTER; COMMENT
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMc1715769


  7 / 2894 MEDLINE  
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[PMID]:29394473
[Au] Autor:Mendell JR
[Ad] Endereço:Nationwide Children's Hospital, Columbus, OH jerry.mendell@nationwidechildrens.org
[Ti] Título:Therapy for Spinal Muscular Atrophy.
[So] Source:N Engl J Med;378(5):487, 2018 02 01.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Atrofia Muscular Espinal
Atrofias Musculares Espinais da Infância
[Mh] Termos MeSH secundário: Seres Humanos
[Pt] Tipo de publicação:LETTER; COMMENT
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMc1715769


  8 / 2894 MEDLINE  
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[PMID]:29385371
[Au] Autor:Finkel RS; Farwell W
[Ad] Endereço:Nemours Children's Hospital, Orlando, FL richard.finkel@nemours.org
[Ti] Título:Therapy for Spinal Muscular Atrophy.
[So] Source:N Engl J Med;378(5):487-488, 2018 02 01.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Atrofia Muscular Espinal
Atrofias Musculares Espinais da Infância
[Mh] Termos MeSH secundário: Seres Humanos
[Pt] Tipo de publicação:LETTER; COMMENT
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMc1715769


  9 / 2894 MEDLINE  
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[PMID]:29178650
[Au] Autor:De Castro MJ; Turner CE
[Ad] Endereço:United States Air Force Medical Genetics Center, 81st Medical Group, Keesler AFB, Mississippi, 39534.
[Ti] Título:Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services.
[So] Source:Mol Genet Genomic Med;5(6):617-620, 2017 11.
[Is] ISSN:2324-9269
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We describe the impact genomics has on the health and readiness of the military service member, highlight several examples of the current and future plans for genomic medicine within the military, discuss challenges to implementation and provide recommendations to address some of those challenges.
[Mh] Termos MeSH primário: Genômica
Medicina Militar
[Mh] Termos MeSH secundário: Proteína BRCA1/genética
Proteína BRCA2/genética
Assistência à Saúde
Hospitais Militares
Seres Humanos
Militares
Atrofia Muscular Espinal/diagnóstico
Atrofia Muscular Espinal/genética
Medicina de Precisão
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BRCA1 Protein); 0 (BRCA2 Protein)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/mgg3.335


  10 / 2894 MEDLINE  
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[PMID]:28450545
[Au] Autor:Martin JE; Nguyen TT; Grunseich C; Nofziger JH; Lee PR; Fields D; Fischbeck KH; Foran E
[Ad] Endereço:Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, and.
[Ti] Título:Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion.
[So] Source:J Neurosci;37(21):5309-5318, 2017 May 24.
[Is] ISSN:1529-2401
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by severe, often fatal muscle weakness due to loss of motor neurons. SMA patients have deletions and other mutations of the ( ) gene, resulting in decreased SMN protein. Astrocytes are the primary support cells of the CNS and are responsible for glutamate clearance, metabolic support, response to injury, and regulation of signal transmission. Astrocytes have been implicated in SMA as in in other neurodegenerative disorders. Astrocyte-specific rescue of SMN protein levels has been shown to mitigate disease manifestations in mice. However, the mechanism by which SMN deficiency in astrocytes may contribute to SMA is unclear and what aspect of astrocyte activity is lacking is unknown. Therefore, it is worthwhile to identify defects in SMN-deficient astrocytes that compromise normal function. We show here that SMA astrocyte cultures derived from mouse spinal cord of both sexes are deficient in supporting both WT and SMN-deficient motor neurons derived from male, female, and mixed-sex sources and that this deficiency may be mitigated with secreted factors. In particular, SMN-deficient astrocytes have decreased levels of monocyte chemoactive protein 1 (MCP1) secretion compared with controls and MCP1 restoration stimulates outgrowth of neurites from cultured motor neurons. Correction of MCP1 deficiency may thus be a new therapeutic approach to SMA. Spinal muscular atrophy (SMA) is caused by the loss of motor neurons, but astrocyte dysfunction also contributes to the disease in mouse models. Monocyte chemoactive protein 1 (MCP1) has been shown to be neuroprotective and is released by astrocytes. Here, we report that MCP1 levels are decreased in SMA mice and that replacement of deficient MCP1 increases differentiation and neurite length of WT and SMN-deficient motor-neuron-like cells in cell culture. This study reveals a novel aspect of astrocyte dysfunction in SMA and indicates a possible approach for improving motor neuron growth and survival in this disease.
[Mh] Termos MeSH primário: Astrócitos/metabolismo
Quimiocina CCL2/metabolismo
Neurônios Motores/metabolismo
Atrofia Muscular Espinal/metabolismo
Proteína 1 de Sobrevivência do Neurônio Motor/genética
[Mh] Termos MeSH secundário: Animais
Astrócitos/citologia
Células Cultivadas
Quimiocina CCL2/genética
Feminino
Seres Humanos
Masculino
Camundongos
Neurônios Motores/citologia
Medula Espinal/citologia
Medula Espinal/metabolismo
Proteína 1 de Sobrevivência do Neurônio Motor/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ccl2 protein, mouse); 0 (Chemokine CCL2); 0 (Smn1 protein, mouse); 0 (Survival of Motor Neuron 1 Protein)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171124
[Lr] Data última revisão:
171124
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1523/JNEUROSCI.3472-16.2017



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