Base de dados : MEDLINE
Pesquisa : C10.228.140.163.100.362.550 [Categoria DeCS]
Referências encontradas : 1123 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 113 ir para página                         

  1 / 1123 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28923328
[Au] Autor:Duarte AJ; Ribeiro D; Oliveira P; Amaral O
[Ad] Endereço:Departamento de Genética Humana-Unidade I and D-P, CSPGF, Instituto Nacional de Saúde Ricardo Jorge (INSA, IP), Porto, Portugal.
[Ti] Título:Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?
[So] Source:Arch Med Res;48(3):263-269, 2017 Apr.
[Is] ISSN:1873-5487
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The ascertainment of mutation frequencies in the general population may have impact on the population's wellbeing and respective healthcare services. Furthermore, it may help define which approaches will be more effective for certain patients based on the genetic cause of disease. AIM OF THE STUDY: Determine the frequency of three mutations, known to be a major cause of three distinct Lysosomal Storage Diseases (LSDs). METHODS: The following pre-requisites were met: each mutation accounted for over 55% of the disease alleles among previously reported unrelated patients, all three diseases were among the most prevalent LSDs in the population under study, they all involved devastating deterioration of the nervous system, lacked curative treatment and may be fatal in childhood or adolescence. The anonymous samples used in this study were representative of the whole population; mutations were tested by PCR based methods, positive results were further confirmed. The diseases studied were Mucopolysaccharidosis type I (Hurler, MIM 607014), Tay Sachs disease variant B1 (TS, MIM 272800) and Metachromatic Leukodystrophy (MLD, MIM 250100); the mutations were, respectively, p.W402X, p.R178C and c.465+1G>A. RESULTS AND CONCLUSION: Increased carrier frequencies were found for Tay Sachs disease variant B1 HEXA p.R178C mutation (1:340) and for the infantile MLD ARSA c.465+1G> A mutation (1:350) denoting higher risk for these sub-types of disease in Portugal and possibly in individuals of Iberian ancestry. Carrier screening in target populations may provide the foundations for more effective approaches to precision medicine.
[Mh] Termos MeSH primário: Leucodistrofia Metacromática/genética
Mucopolissacaridose I/genética
Doença de Tay-Sachs/genética
[Mh] Termos MeSH secundário: Alelos
Seres Humanos
Recém-Nascido
Mutação
Taxa de Mutação
Portugal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170920
[St] Status:MEDLINE


  2 / 1123 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28526683
[Au] Autor:Stax AM; Tuengel J; Girardi E; Kitano N; Allan LL; Liu V; Zheng D; Panenka WJ; Guillaume J; Wong CH; van Calenbergh S; Zajonc DM; van den Elzen P
[Ad] Endereço:BC Children's Hospital Research Institute, Vancouver, British Columbia V5Z 4H4, Canada.
[Ti] Título:Autoreactivity to Sulfatide by Human Invariant NKT Cells.
[So] Source:J Immunol;199(1):97-106, 2017 Jul 01.
[Is] ISSN:1550-6606
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Invariant NKT (iNKT) cells are innate-like lymphocytes that recognize lipid Ags presented by CD1d. The prototypical Ag, α-galactosylceramide, strongly activates human and mouse iNKT cells, leading to the assumption that iNKT cell physiology in human and mouse is similar. In this article, we report the surprising finding that human, but not mouse, iNKT cells directly recognize myelin-derived sulfatide presented by CD1d. We propose that sulfatide is recognized only by human iNKT cells because of the unique positioning of the 3- -sulfated ß-galactose headgroup. Surface plasmon resonance shows that the affinity of human CD1d-sulfatide for the iNKT cell receptor is relatively low compared with CD1d-α-galactosylceramide ( of 19-26 µM versus 1 µM). Apolipoprotein E isolated from human cerebrospinal fluid carries sulfatide that can be captured by APCs and presented by CD1d to iNKT cells. APCs from patients with metachromatic leukodystrophy, who accumulate sulfatides due to a deficiency in arylsulfatase-A, directly activate iNKT cells. Thus, we have identified sulfatide as a self-lipid recognized by human iNKT cells and propose that sulfatide recognition by innate T cells may be an important pathologic feature of neuroinflammatory disease and that sulfatide in APCs may contribute to the endogenous pathway of iNKT cell activation.
[Mh] Termos MeSH primário: Apresentação do Antígeno
Ativação Linfocitária
Células T Matadoras Naturais/imunologia
Sulfoglicoesfingolipídeos/imunologia
[Mh] Termos MeSH secundário: Animais
Antígenos CD1d/imunologia
Apolipoproteínas E/líquido cefalorraquidiano
Apolipoproteínas E/química
Apolipoproteínas E/imunologia
Linhagem Celular
Cerebrosídeo Sulfatase/deficiência
Cerebrosídeo Sulfatase/metabolismo
Galactosilceramidas/imunologia
Seres Humanos
Leucodistrofia Metacromática/imunologia
Camundongos
Células T Matadoras Naturais/fisiologia
Receptores de Antígenos de Linfócitos T/imunologia
Ressonância de Plasmônio de Superfície
Subpopulações de Linfócitos T/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD1d); 0 (Apolipoproteins E); 0 (CD1D protein, human); 0 (CD1d antigen, mouse); 0 (Galactosylceramides); 0 (Receptors, Antigen, T-Cell); 0 (Sulfoglycosphingolipids); 0 (alpha-galactosylceramide); EC 3.1.6.8 (Cerebroside-Sulfatase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170927
[Lr] Data última revisão:
170927
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170521
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1601976


  3 / 1123 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28193373
[Au] Autor:Espejo LM; de la Espriella R; Hernández JF
[Ad] Endereço:Clínica Nuestra Señora de La Paz, Bogotá, Colombia.
[Ti] Título:[Metachromatic Leukodystrophy. Case Presentation].
[Ti] Título:Leucodistrofia metacromática. Presentación de caso..
[So] Source:Rev Colomb Psiquiatr;46(1):44-49, 2017 Jan - Mar.
[Is] ISSN:0034-7450
[Cp] País de publicação:Colombia
[La] Idioma:spa
[Ab] Resumo:Metachromatic leukodystrophy (MLD) is a rare demyelinating disease (prevalence 1:40 000), also called arylsulfatase A deficiency (ARS-A), which may present with neurological and psychiatric symptoms. Clinical assessment may be difficult, due to unspecific signs and symptoms. A case is presented of a 16 year-old female patient seen in psychiatry due to behavioural changes, psychosis, and with impaired overall performance. She was initially diagnosed with schizophrenia, but the Nuclear Magnetic Resonance (NMR) scan and laboratory tests lead to the diagnosis of MLD.
[Mh] Termos MeSH primário: Leucodistrofia Metacromática/diagnóstico
Imagem por Ressonância Magnética/métodos
Esquizofrenia/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Feminino
Seres Humanos
Leucodistrofia Metacromática/diagnóstico por imagem
Leucodistrofia Metacromática/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170215
[St] Status:MEDLINE


  4 / 1123 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27993207
[Au] Autor:Kim J; Sun Z; Ezekian B; Schooler GR; Prasad VK; Kurtzberg J; Rice HE; Tracy ET
[Ad] Endereço:Department of Surgery, Duke University Medical Center, Durham, North Carolina. Electronic address: jina.kim1@dm.duke.edu.
[Ti] Título:Gallbladder abnormalities in children with metachromatic leukodystrophy.
[So] Source:J Surg Res;208:187-191, 2017 Feb.
[Is] ISSN:1095-8673
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disease that leads to neurological deterioration and visceral involvement, including sulphatide deposition in the gallbladder wall. Using our institution's extensive experience in treating MLD, we examined the incidence of gallbladder abnormalities in the largest cohort of children with MLD to date. METHODS: We conducted a retrospective review of all children with MLD, adrenoleukodystrophy (ALD), or Krabbe disease who underwent hematopoietic stem cell transplantation (HSCT) at our institution between 1994 and 2015. Baseline characteristics and unadjusted outcomes were compared using the Kruskal-Wallis test for continuous variables and Pearson χ test for categorical variables, with significance defined as P < 0.05. RESULTS: In total, 87 children met study criteria: 29 children with MLD and 58 children with ALD or Krabbe disease. Children with MLD were more likely to demonstrate gallbladder abnormalities on imaging, both before HSCT (41.4% versus 5.2%, P < 0.001) and after HSCT (75.9% versus 41.4%, P = 0.002). Consequently, a larger proportion of children with MLD underwent surgical or interventional management of biliary disease (10.3% versus 3.4%, P = 0.03). CONCLUSIONS: Children with MLD have a significantly greater incidence of gallbladder abnormalities than children with other lysosomal storage diseases. Biliary disease should be considered in children with MLD who develop abdominal pain, and cholecystectomy should be considered for persistent, symptomatic gallbladder abnormalities.
[Mh] Termos MeSH primário: Doenças Biliares/etiologia
Vesícula Biliar/anormalidades
Leucodistrofia Metacromática/complicações
[Mh] Termos MeSH secundário: Doenças Biliares/epidemiologia
Doenças Biliares/terapia
Criança
Pré-Escolar
Seres Humanos
Lactente
Leucodistrofia Metacromática/epidemiologia
North Carolina/epidemiologia
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170718
[Lr] Data última revisão:
170718
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161221
[St] Status:MEDLINE


  5 / 1123 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Burin, Maira Graeff
Texto completo SciELO Brasil
[PMID]:27991992
[Au] Autor:Saute JA; Souza CF; Poswar FO; Donis KC; Campos LG; Deyl AV; Burin MG; Vargas CR; Matte UD; Giugliani R; Saraiva-Pereira ML; Vedolin LM; Gregianin LJ; Jardim LB
[Ad] Endereço:Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre RS, Brasil.
[Ti] Título:Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
[So] Source:Arq Neuropsiquiatr;74(12):953-966, 2016 Dec.
[Is] ISSN:1678-4227
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Objective: To describe survival and neurological outcomes after HSCT for these disorders. Methods: Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results: Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. Conclusion: Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.
[Mh] Termos MeSH primário: Adrenoleucodistrofia/cirurgia
Transplante de Células-Tronco Hematopoéticas
Leucodistrofia Metacromática/cirurgia
Mucopolissacaridose I/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Adrenoleucodistrofia/genética
Adrenoleucodistrofia/mortalidade
Adulto
Idade de Início
Encéfalo/diagnóstico por imagem
Encéfalo/patologia
Brasil/epidemiologia
Criança
Pré-Escolar
Feminino
Transplante de Células-Tronco Hematopoéticas/mortalidade
Seres Humanos
Leucodistrofia Metacromática/genética
Leucodistrofia Metacromática/mortalidade
Imagem por Ressonância Magnética
Masculino
Mucopolissacaridose I/genética
Mucopolissacaridose I/mortalidade
Linhagem
Estudos Retrospectivos
Doadores de Tecidos
Condicionamento Pré-Transplante/métodos
Resultado do Tratamento
Substância Branca/diagnóstico por imagem
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170915
[Lr] Data última revisão:
170915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161220
[St] Status:MEDLINE


  6 / 1123 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27658981
[Au] Autor:Armstrong FD
[Ad] Endereço:Department of Pediatrics, Mailman Center for Child Development, University of Miami Miller School of Medicine, Miami, FL 33101, USA; Holtz Children's Hospital, Miami, FL, USA. Electronic address: darmstrong@miami.edu.
[Ti] Título:Acute leukodystrophy: elevated risk for neurocognitive impairment and imaging abnormalities.
[So] Source:Lancet Haematol;3(10):e447-e448, 2016 Oct.
[Is] ISSN:2352-3026
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Doenças Desmielinizantes
Testes Neuropsicológicos
[Mh] Termos MeSH secundário: Encéfalo
Transtornos Cognitivos
Seres Humanos
Leucodistrofia Metacromática
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160924
[St] Status:MEDLINE


  7 / 1123 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27638601
[Au] Autor:Rosenberg JB; Kaminsky SM; Aubourg P; Crystal RG; Sondhi D
[Ad] Endereço:Department of Genetic Medicine, Weill Cornell Medical College, New York, New York.
[Ti] Título:Gene therapy for metachromatic leukodystrophy.
[So] Source:J Neurosci Res;94(11):1169-79, 2016 Nov.
[Is] ISSN:1097-4547
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Leukodystrophies (LDs) are rare, often devastating genetic disorders with neurologic symptoms. There are currently no disease-specific therapeutic approaches for these diseases. In this review we use metachromatic leukodystrophy as an example to outline in the brief the therapeutic approaches to MLD that have been tested in animal models and in clinical trials, such as enzyme-replacement therapy, bone marrow/umbilical cord blood transplants, ex vivo transplantation of genetically modified hematopoietic stem cells, and gene therapy. These studies suggest that to be successful the ideal therapy for MLD must provide persistent and high level expression of the deficient gene, arylsulfatase A in the CNS. Gene therapy using adeno-associated viruses is therefore the ideal choice for clinical development as it provides the best balance of potential for efficacy with reduced safety risk. Here we have summarized the published preclinical data from our group and from others that support the use of a gene therapy with AAVrh.10 serotype for clinical development as a treatment for MLD, and as an example of the potential of gene therapy for LDs especially for Krabbe disease, which is the focus of this special issue. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Terapia Genética/métodos
Leucodistrofia Metacromática/terapia
[Mh] Termos MeSH secundário: Animais
Cerebrosídeo Sulfatase/deficiência
Cerebrosídeo Sulfatase/genética
Modelos Animais de Doenças
Seres Humanos
Leucodistrofia Metacromática/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.1.6.8 (Cerebroside-Sulfatase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160918
[St] Status:MEDLINE
[do] DOI:10.1002/jnr.23792


  8 / 1123 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27538671
[Au] Autor:Grimm A; Schäffer E; Just J; Schöls L; Kehrer C; Bevot A; Ziemann U; Krageloh-Mann I
[Ad] Endereço:Center of Neurology, Hertie Institute for Clinical Brain Research, Eberhard-Karls University Tübingen, Tübingen, Germany. Electronic address: alexander.grimm@med.uni-tuebingen.de.
[Ti] Título:Thickening of the peripheral nerves in metachromatic leukodystrophy.
[So] Source:J Neurol Sci;368:399-401, 2016 Sep 15.
[Is] ISSN:1878-5883
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Mh] Termos MeSH primário: Leucodistrofia Metacromática/patologia
Nervos Periféricos/patologia
[Mh] Termos MeSH secundário: Encéfalo/diagnóstico por imagem
Criança
Feminino
Seres Humanos
Leucodistrofia Metacromática/diagnóstico por imagem
Imagem por Ressonância Magnética
Nervos Periféricos/diagnóstico por imagem
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160820
[St] Status:MEDLINE


  9 / 1123 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27400410
[Au] Autor:Groeschel S; Kühl JS; Bley AE; Kehrer C; Weschke B; Döring M; Böhringer J; Schrum J; Santer R; Kohlschütter A; Krägeloh-Mann I; Müller I
[Ad] Endereço:Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital of Tübingen, Tübingen, Germany.
[Ti] Título:Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.
[So] Source:JAMA Neurol;73(9):1133-40, 2016 Sep 01.
[Is] ISSN:2168-6157
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:IMPORTANCE: Allogeneic hematopoietic stem cell transplantation (HSCT) has been the only treatment option clinically available during the last 20 years for juvenile metachromatic leukodystrophy (MLD), reported with variable outcome and without comparison with the natural course of the disease. OBJECTIVE: To compare the long-term outcome of patients who underwent allogeneic HSCT with control patients who did not among a cohort with juvenile MLD. DESIGN, SETTING, AND PARTICIPANTS: Patients with juvenile MLD born between 1975 and 2009 and who received HSCT at a median age of 7 years (age range, 1.5-18.2 years) and nontransplanted patients with juvenile MLD born between 1967 and 2007 were included in this case-control study. The median follow-up after HSCT was 7.5 years (range, 3.0-19.7 years). Patients underwent HSCT at 3 German centers between 1991 and 2012. The analysis was done between July 2014 and August 2015. MAIN OUTCOMES AND MEASURES: Survival and transplantation-related mortality, loss of gross motor function (Gross Motor Function Classification in MLD), loss of any language function, and magnetic resonance imaging (MRI) severity score for cerebral changes. To explore prognostic factors at baseline, patients who underwent HSCT (hereafter, transplanted patients) were a priori divided into stable vs progressive disease, according to gross motor and cognitive function. RESULTS: Participants were 24 transplanted patients (11 boys, 13 girls) and 41 control patients (22 boys, 19 girls) who did not receive transplantation (hereafter, nontransplanted patients) with juvenile MLD. Among the transplanted patients, 4 children died of transplantation-related mortality, and 2 additional children died of rapid MLD progression 1.5 and 8.6 years after HSCT, resulting in a 5-year survival of 79% (19 of 24). Among the nontransplanted patients, 5-year survival after disease onset was 100% (41 of 41). However, 11 died of MLD progression, resulting in similar overall survival within the observation period. Nine of the long-term survivors after HSCT had disease progression, while 11 showed stable disease. Compared with the nontransplanted patients, the transplanted patients were less likely to lose their gross motor or language function and demonstrated significantly lower MRI severity scores at the latest examination. Patients after HSCT were more likely to have a stable disease course when undergoing HSCT at an early stage with no or only mild gross motor deficits (Gross Motor Function Classification in MLD level 0 or 1) and an IQ of at least 85, when age at disease onset was older than 4 years, or when MRI severity scores were low (preferably ≤17). CONCLUSIONS AND RELEVANCE: Among patients with juvenile MLD, patients who underwent HSCT had a better gross motor and language outcome and lower MRI severity scores compared with nontransplanted patients. Transplantation at a presymptomatic or early symptomatic stage of juvenile MLD is associated with a reasonable chance for disease stabilization.
[Mh] Termos MeSH primário: Transplante de Células-Tronco Hematopoéticas/métodos
Leucodistrofia Metacromática/cirurgia
Resultado do Tratamento
[Mh] Termos MeSH secundário: Adolescente
Encéfalo/diagnóstico por imagem
Estudos de Casos e Controles
Criança
Pré-Escolar
Estudos de Coortes
Deficiências do Desenvolvimento/etiologia
Deficiências do Desenvolvimento/cirurgia
Feminino
Seres Humanos
Lactente
Leucodistrofia Metacromática/complicações
Leucodistrofia Metacromática/diagnóstico por imagem
Leucodistrofia Metacromática/mortalidade
Imagem por Ressonância Magnética
Masculino
Transplante Homólogo/métodos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170530
[Lr] Data última revisão:
170530
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160712
[St] Status:MEDLINE
[do] DOI:10.1001/jamaneurol.2016.2067


  10 / 1123 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27374302
[Au] Autor:Wang Z; Lin Y; Zheng D; Yan A; Tu X; Lin J; Lan F
[Ad] Endereço:Research Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, China.
[Ti] Título:Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree.
[So] Source:Clin Chim Acta;460:135-7, 2016 Sep 01.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused mainly by variants in arylsulfatase A (ARSA) gene. MLD can be divided into three major clinical forms according to the age of onset: late infantile, juvenile, and adult. We report two siblings of late infantile MLD presenting with cerebellar ataxia as the only first clinical symptom. METHODS: Because of the unspecific neurological manifestation, whole-exome sequencing (WES) was performed to find disease-causing mutations for molecular diagnosis. Then successive MRI and ARSA activity determination were performed to further confirm the diagnosis. Moreover, the prenatal diagnosis was carried out on the basis of molecular diagnosis. RESULTS: The siblings exhibited compound heterozygous variants {[c.302G>T]+[c.1344dupC]} in the ARSA gene, and both of the variants have been reported as disease-causing mutations previously. The results of MRI and low ARSA activity confirmed the diagnosis of MLD. Prenatal diagnosis showed that the fetus was a heterozygous carrier. CONCLUSIONS: It is recommended that WES be considered as a first line diagnostic procedure to discover potential disease-causing genetic variants in affected individuals with hereditary traits but without definite clinical diagnosis. However, the final diagnosis should be confirmed by comprehensive evaluations including biochemical, enzymatic or imaging investigations.
[Mh] Termos MeSH primário: Cerebrosídeo Sulfatase/genética
Exoma/genética
Leucodistrofia Metacromática/genética
Mutação
[Mh] Termos MeSH secundário: Idade de Início
Grupo com Ancestrais do Continente Asiático
Análise Mutacional de DNA
Heterozigoto
Seres Humanos
Lactente
Leucodistrofia Metacromática/diagnóstico
Linhagem
Diagnóstico Pré-Natal
Irmãos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.8 (Cerebroside-Sulfatase)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170202
[Lr] Data última revisão:
170202
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160705
[St] Status:MEDLINE



página 1 de 113 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde