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  1 / 29 MEDLINE  
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[PMID]:27771292
[Au] Autor:Coant N; Sakamoto W; Mao C; Hannun YA
[Ad] Endereço:Health Science Center, Stony Brook University, 100 Nicolls Road, T15, 023, 11794, Stony Brook, NY, USA. Electronic address: Nicolas.Coant@stonybrookmedicine.edu.
[Ti] Título:Ceramidases, roles in sphingolipid metabolism and in health and disease.
[So] Source:Adv Biol Regul;63:122-131, 2017 Jan.
[Is] ISSN:2212-4934
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Over the past three decades, extensive research has been able to determine the biologic functions for the main bioactive sphingolipids, namely ceramide, sphingosine, and sphingosine 1-phosphate (S1P) (Hannun, 1996; Hannun et al., 1986; Okazaki et al., 1989). These studies have managed to define the metabolism, regulation, and function of these bioactive sphingolipids. This emerging body of literature has also implicated bioactive sphingolipids, particularly S1P and ceramide, as key regulators of cellular homeostasis. Ceramidases have the important role of cleaving fatty acid from ceramide and producing sphingosine, thereby controlling the interconversion of these two lipids. Thus far, five human ceramidases encoded by five different genes have been identified: acid ceramidase (AC), neutral ceramidase (NC), alkaline ceramidase 1 (ACER1), alkaline ceramidase 2 (ACER2), and alkaline ceramidase 3 (ACER3). These ceramidases are classified according to their optimal pH for catalytic activity. AC, which is localized to the lysosomal compartment, has been associated with Farber's disease and is involved in the regulation of cell viability. Neutral ceramidase, which is localized to the plasma membrane and primarily expressed in the small intestine and colon, is involved in digestion, and has been implicated in colon carcinogenesis. ACER1 which can be found in the endoplasmic reticulum and is highly expressed in the skin, plays an important role in keratinocyte differentiation. ACER2, localized to the Golgi complex and highly expressed in the placenta, is involved in programed cell death in response to DNA damage. ACER3, also localized to the endoplasmic reticulum and the Golgi complex, is ubiquitously expressed, and is involved in motor coordination-associated Purkinje cell degeneration. This review seeks to consolidate the current knowledge regarding these key cellular players.
[Mh] Termos MeSH primário: Ceramidase Ácida/metabolismo
Ceramidase Alcalina/metabolismo
Ceramidase Neutra/metabolismo
Esfingolipídeos/metabolismo
[Mh] Termos MeSH secundário: Ceramidase Ácida/genética
Ceramidase Alcalina/genética
Animais
Lipogranulomatose de Farber/enzimologia
Lipogranulomatose de Farber/genética
Lipogranulomatose de Farber/patologia
Expressão Gênica
Seres Humanos
Concentração de Íons de Hidrogênio
Inflamação
Cinética
Neoplasias/enzimologia
Neoplasias/genética
Neoplasias/patologia
Doenças Neurodegenerativas/enzimologia
Doenças Neurodegenerativas/genética
Doenças Neurodegenerativas/patologia
Ceramidase Neutra/genética
Transdução de Sinais
Especificidade por Substrato
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Sphingolipids); EC 3.5.1.23 (ACER1 protein, human); EC 3.5.1.23 (ACER2 protein, human); EC 3.5.1.23 (ACER3 protein, human); EC 3.5.1.23 (Acid Ceramidase); EC 3.5.1.23 (Alkaline Ceramidase); EC 3.5.1.23 (Neutral Ceramidase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:180101
[Lr] Data última revisão:
180101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE


  2 / 29 MEDLINE  
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[PMID]:28342444
[Au] Autor:Sikora J; Dworski S; Jones EE; Kamani MA; Micsenyi MC; Sawada T; Le Faouder P; Bertrand-Michel J; Dupuy A; Dunn CK; Xuan ICY; Casas J; Fabrias G; Hampson DR; Levade T; Drake RR; Medin JA; Walkley SU
[Ad] Endereço:Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, New York; Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine, Prague, Czech Republic; Institut
[Ti] Título:Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.
[So] Source:Am J Pathol;187(4):864-883, 2017 Apr.
[Is] ISSN:1525-2191
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early-onset progressive visceral and neurologic disease. To understand the neurologic abnormality, we investigated behavioral, biochemical, and cellular abnormalities in the central nervous system of Asah1 mice, which serve as a model of Farber disease. Behaviorally, the mutant mice had reduced voluntary locomotion and exploration, increased thigmotaxis, abnormal spectra of basic behavioral activities, impaired muscle grip strength, and defects in motor coordination. A few mutant mice developed hydrocephalus. Mass spectrometry revealed elevations of ceramides, hydroxy-ceramides, dihydroceramides, sphingosine, dihexosylceramides, and monosialodihexosylganglioside in the brain. The highest accumulation was in hydroxy-ceramides. Storage compound distribution was analyzed by mass spectrometry imaging and morphologic analyses and revealed involvement of a wide range of central nervous system cell types (eg, neurons, endothelial cells, and choroid plexus cells), most notably microglia and/or macrophages. Coalescing and mostly perivascular granuloma-like accumulations of storage-laden CD68 microglia and/or macrophages were seen as early as 3 weeks of age and located preferentially in white matter, periventricular zones, and meninges. Neurodegeneration was also evident in specific cerebral areas in late disease. Overall, our central nervous system studies in Asah1 mice substantially extend the understanding of human Farber disease and suggest that this model can be used to advance therapeutic approaches for this currently untreatable disorder.
[Mh] Termos MeSH primário: Sistema Nervoso Central/anormalidades
Lipogranulomatose de Farber/complicações
Lipogranulomatose de Farber/patologia
Malformações do Sistema Nervoso/etiologia
Malformações do Sistema Nervoso/patologia
[Mh] Termos MeSH secundário: Ceramidase Ácida/metabolismo
Animais
Comportamento Animal
Sistema Nervoso Central/patologia
Cerebelo/patologia
Cerebelo/ultraestrutura
Cérebro/patologia
Cérebro/ultraestrutura
Homozigoto
Hidrocefalia/patologia
Camundongos
Camundongos Transgênicos
Atividade Motora
Neurônios/patologia
Neurônios/ultraestrutura
Fenótipo
Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz
Esfingolipídeos/metabolismo
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Sphingolipids); EC 3.5.1.23 (Acid Ceramidase); EC 3.5.1.23 (Asah1 protein, mouse)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170708
[Lr] Data última revisão:
170708
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170327
[St] Status:MEDLINE


  3 / 29 MEDLINE  
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[PMID]:28219647
[Ti] Título:This Month in AJP.
[So] Source:Am J Pathol;187(4):695, 2017 Apr.
[Is] ISSN:1525-2191
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The following highlights summarize research articles that are published in the current issue of The American Journal of Pathology.
[Mh] Termos MeSH primário: Publicações Periódicas como Assunto
[Mh] Termos MeSH secundário: Animais
Nefropatias Diabéticas/genética
Modelos Animais de Doenças
Epigênese Genética
Lipogranulomatose de Farber/patologia
Retardo do Crescimento Fetal/patologia
Seres Humanos
Influenza Humana/transmissão
Escleroderma Sistêmico/terapia
[Pt] Tipo de publicação:INTRODUCTORY JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170522
[Lr] Data última revisão:
170522
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170222
[St] Status:MEDLINE


  4 / 29 MEDLINE  
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[PMID]:28072961
[Au] Autor:Bao XH; Tian JM; Ji TY; Chang XZ
[Ad] Endereço:Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
[Ti] Título:[A case report of childhood Farber's disease and literature review].
[So] Source:Zhonghua Er Ke Za Zhi;55(1):54-58, 2017 Jan 02.
[Is] ISSN:0578-1310
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To explore the clinical features, diagnosis, treatment and the prognosis of Farber disease by case report and literature review. The clinical information of a case with farber's disease diagnosed in October 2015 at Peking University First Hospital was collected and analyzed, including clinical manifestation, electrophysiology, magnetic resonance imaging, pathology, treatments and prognosis.ASAH1 gene mutational analysis was conducted in the patient and her parents.By using "Farber's disease, ASAH1" as keywords, literature was searched from Pubmed, CHKD and HGMD database from January 1951 to January 2016. The girl, 2 years 2 months old, was sent to our hospital in October 2015, with complains of "joint swelling for 17 months, development regress of intelligence and movement for 11 months, intermittent seizures for 2 months" .The clinical manifestation of the patient was characterized by painful and deformed joints, subcutaneous nodules, progressive hoarseness, and the progressive neurological system deterioration.Joints swelling and deformity behave as the first symptoms.A series of electroencephalogram showed slow background and spike wave.Visual evoked potential was significantly abnormal.Brain magnetic resonance imaging (MRI) showed hypomyelination and progressive diffuse brain atrophy.Histology of subcutaneous nodule showed proliferation of the connective tissue with hyalinization, cholesterol crystal like changes, and a large number of foamy cell infiltration.Compound heterozygous mutations of ASAH1 gene, c. 304_305 ins A (p.T102Nfs14) and c. 314T>C (p.L105p), were found in the patient, and the former is inherited from her mother, the latter from her father.Antiepileptic treatment and other symptomatic treatments were delivered to the patient, but the effectiveness was poor.One reference from China hownet and 35 references from Pubmed have reported a total of 26 cases.Twenty out of 26 patients (77%) had the onset under 1 year of age.By region, there were 12 patients (12/26, 46%) from India, and the others around world.Among these 12 indian patients, 10 lack of complete clinical data.Among the rest 16 patients, 4 patients' parents were consanguineous; 8 patients with the main clinical manifestation of painful and deformed joints, subcutaneous nodules, and hoarse cry; 4 patients with hepatic failure and impaired spleen; 5 patients with rapid neurological deterioration; 1 patient with bone destruction; 7 patients under liver and skin biopsies, pathologically showing a large number of foam cells and "Farber bodies" . There are 33 genetic mutations, and 45% (15/33) mutations are concentrated in ASAH1 exon 6-10. Farber disease is a rare autosomal recessive disease caused by deficiency of lysosomal acid ceramidase.Histopathology of granulomatous tissue plays an important role in the early diagnosis.
[Mh] Termos MeSH primário: Lipogranulomatose de Farber/genética
Mutação
[Mh] Termos MeSH secundário: Ceramidase Ácida
Pré-Escolar
Eletroencefalografia
Potenciais Evocados Visuais
Éxons
Feminino
Seres Humanos
Imagem por Ressonância Magnética
Pele
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.5.1.23 (Acid Ceramidase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170726
[Lr] Data última revisão:
170726
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170111
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1310.2017.01.011


  5 / 29 MEDLINE  
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[PMID]:27650050
[Au] Autor:Teoh HL; Solyom A; Schuchman EH; Mowat D; Roscioli T; Farrar M; Sampaio H
[Ad] Endereço:Departments of Neurology and.
[Ti] Título:Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency.
[So] Source:Pediatrics;138(4), 2016 Oct.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Survival of motor neuron 1-------negative spinal muscular atrophy (SMA) is heterogeneous and remains a diagnostic challenge. The clinical spectrum continues to expand and ∼33 genes have been identified to date. The present report describes a 9-year-old girl with novel clinical phenotype of a patient with polyarticular arthritis followed by symptoms of SMA due to acid ceramidase deficiency. Whole exome sequencing identified compound heterozygous pathogenic mutation in the N-acylsphingosine amidohydrolase 1 gene. Functional assay with leukocyte acid ceramidase activity showed a decreased level in the proband confirming pathogenicity of the mutations. Mutations of N-acylsphingosine amidohydrolase 1 are known to separately cause Farber disease (arthritis, subcutaneous nodules, and dysphonia) or SMA with progressive myoclonic epilepsy. The present combined phenotype is novel, bringing together SMA with progressive myoclonic epilepsy and Farber disease and establishing a phenotypic spectrum. Acid ceramidase deficiency is an important consideration in patients presenting with polyarticular arthritis and motor neuron disease.
[Mh] Termos MeSH primário: Ceramidase Ácida/genética
Artrite Juvenil/genética
Lipogranulomatose de Farber/genética
Atrofia Muscular Espinal/genética
[Mh] Termos MeSH secundário: Criança
Lipogranulomatose de Farber/complicações
Evolução Fatal
Feminino
Seres Humanos
Mutação
Fenótipo
Insuficiência Respiratória/etiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.5.1.23 (ASAH1 protein, human); EC 3.5.1.23 (Acid Ceramidase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170622
[Lr] Data última revisão:
170622
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160922
[St] Status:MEDLINE


  6 / 29 MEDLINE  
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[PMID]:27647482
[Au] Autor:Topaloglu H; Melki J
[Ad] Endereço:Hacettepe University Departments of Pediatric Neurology, Ankara, Turkey.
[Ti] Título:Spinal muscular atrophy associated with progressive myoclonus epilepsy.
[So] Source:Epileptic Disord;18(S2):128-134, 2016 Sep 01.
[Is] ISSN:1950-6945
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:A rare syndrome characterized by lower motor neuron disease associated with progressive myoclonic epilepsy, referred to as "spinal muscular atrophy associated with progressive myoclonic epilepsy" (SMA-PME), has been described in childhood and is inherited as an autosomal recessive trait. SMA-PME is caused by mutation in the ASAH1 gene encoding acid ceramidase. Ceramide and the metabolites participate in various cellular events as lipid mediators. The catabolism of ceramide in mammals occurs in lysosomes through the activity of ceramidase. Three different ceramidases (acid, neutral and alkaline) have been identified and appear to play distinct roles in sphingolipid metabolism. The enzymatic activity of acid ceramidase is deficient in two rare inherited disorders; Farber disease and SMA-PME. Farber disease is a very rare and severe autosomal recessive condition with a distinct clinical phenotype. The marked difference in disease manifestations may explain why Farber and SMA-PME diseases were not previously suspected to be allelic conditions. The precise molecular mechanism underlying the phenotypic differences remains to be clarified. Recently, a condition with mutation in CERS1, the gene encoding ceramide synthase 1, has been identified as a novel form of PME. This finding underlies the essential role of enzymes regulating either the synthesis (CERS1) or degradation (ASAH1) of ceramide, and the link between defects in ceramide metabolism and PME.
[Mh] Termos MeSH primário: Ceramidase Ácida/genética
Lipogranulomatose de Farber/genética
Atrofia Muscular Espinal/genética
Epilepsias Mioclônicas Progressivas/genética
[Mh] Termos MeSH secundário: Animais
Seres Humanos
Atrofia Muscular Espinal/fisiopatologia
Epilepsias Mioclônicas Progressivas/fisiopatologia
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.5.1.23 (ASAH1 protein, human); EC 3.5.1.23 (Acid Ceramidase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170314
[Lr] Data última revisão:
170314
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160921
[St] Status:MEDLINE


  7 / 29 MEDLINE  
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[PMID]:27411168
[Au] Autor:Kim SY; Choi SA; Lee S; Lee JS; Hong CR; Lim BC; Kang HJ; Kim KJ; Park SH; Choi M; Chae JH
[Ad] Endereço:Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
[Ti] Título:Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
[So] Source:Am J Med Genet A;170(11):3023-3027, 2016 Nov.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Farber disease is a very rare autosomal recessive disease caused by mutation of ASAH1 that results in the accumulation of ceramide in various tissues. Clinical symptoms of classic Farber disease comprise painful joint deformity, hoarseness of voice, and subcutaneous nodules. Here, we describe a patient with Farber disease with atypical presentation of early onset hypotonia, sacral mass, congenital heart disease, and dysmorphic face since birth. Severe cognitive disability, failure to gain motor skills, failure to thrive, and joint contractures developed. Using whole-exome sequencing, we identified the compound heterozygote missense mutations of ASAH1 (p.R333C and p.G235R). Because of the diagnostic delay, she underwent sacral mass excision, which revealed enlarged lysosomes and zebra bodies. We report an atypical presentation of Farber disease with her pathology and associated genetic defect. This case expands the phenotypic spectrum of Farber disease to include novel mutations of ASAH1, which pose a diagnostic challenge. We also discuss the clinical utility of whole-exome sequencing for diagnosis of ultra-rare diseases. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Ceramidase Ácida/genética
Lipogranulomatose de Farber/diagnóstico
Lipogranulomatose de Farber/genética
Mutação
Fenótipo
[Mh] Termos MeSH secundário: Idade de Início
Alelos
Sequência de Aminoácidos
Substituição de Aminoácidos
Encéfalo/patologia
Análise Mutacional de DNA
Exoma
Feminino
Genótipo
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Lactente
Recém-Nascido
Imagem por Ressonância Magnética
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.5.1.23 (ASAH1 protein, human); EC 3.5.1.23 (Acid Ceramidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160714
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37846


  8 / 29 MEDLINE  
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[PMID]:26945816
[Au] Autor:Bonafé L; Kariminejad A; Li J; Royer-Bertrand B; Garcia V; Mahdavi S; Bozorgmehr B; Lachman RL; Mittaz-Crettol L; Campos-Xavier B; Nampoothiri S; Unger S; Rivolta C; Levade T; Superti-Furga A
[Ad] Endereço:Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
[Ti] Título:Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.
[So] Source:Arthritis Rheumatol;68(9):2323-7, 2016 Sep.
[Is] ISSN:2326-5205
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To establish a diagnosis and provide counseling and treatment for 3 adult patients from one family presenting with peripheral osteolysis. METHODS: Following clinical and radiographic assessment, exome sequencing, targeted gene resequencing, and determination of enzyme activity in cultured fibroblasts were performed. RESULTS: The proband (age 40 years) had a history of episodic fever and pain in childhood that subsided around puberty. He and 2 of his older sisters (ages 58 and 60 years, respectively) showed adult-onset progressive shortening of fingers and toes with redundancy of the overlying skin. Radiographs showed severe osteolysis of the distal radius and ulna, carpal bones, metacarpal bones, and phalanges. Sequencing of the known genes for recessively inherited osteolysis, MMP2 and MMP14, failed to show pathogenic mutations. Exome sequencing revealed compound heterozygosity for mutations c.505T>C (p.Trp169Arg) and c.760A>G (p.Arg254Gly) in ASAH1, the gene coding for acid ceramidase. Sanger sequencing confirmed correct segregation in the family, and enzyme activity in fibroblast cultures from the patients was reduced to ∼8% of that in controls, confirming a diagnosis of Farber's disease. CONCLUSION: Our findings indicate that hypomorphic mutations in ASAH1 may result in an osteoarticular phenotype with a juvenile phase resembling rheumatoid arthritis that evolves to osteolysis as the final stage in the absence of neurologic signs. This observation delineates a novel type of recessively inherited peripheral osteolysis and illustrates the long-term skeletal manifestations of acid ceramidase deficiency (Farber's disease) in what appear to be the oldest affected individuals known so far.
[Mh] Termos MeSH primário: Ceramidase Ácida/genética
Lipogranulomatose de Farber/genética
Mutação
Osteólise/genética
[Mh] Termos MeSH secundário: Adulto
Lipogranulomatose de Farber/diagnóstico
Feminino
Seres Humanos
Masculino
Meia-Idade
Linhagem
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.5.1.23 (ASAH1 protein, human); EC 3.5.1.23 (Acid Ceramidase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160307
[St] Status:MEDLINE
[do] DOI:10.1002/art.39659


  9 / 29 MEDLINE  
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[PMID]:26373951
[Au] Autor:Cappellari AM; Torcoletti M; Triulzi F; Corona F
[Ad] Endereço:Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy. albertocapp@yahoo.it.
[Ti] Título:Nervous system involvement in Farber disease.
[So] Source:J Inherit Metab Dis;39(1):149-50, 2016 Jan.
[Is] ISSN:1573-2665
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:A 30 months-old boy with Farber disease developed nystagmus 12 months after hematopoietic stem cell transplantation (HSCT). At 40 months, gait ataxia was evident, and brain MRI showed increased size of pericerebellar sulci and 4th ventricle. EMG showed denervation in the tongue and upper limb muscles, consistent with motor neuron disease. HSCT improves the peripheral manifestations of Farber disease, but may not prevent the progressive neurological deterioration.
[Mh] Termos MeSH primário: Lipogranulomatose de Farber/diagnóstico
Lipogranulomatose de Farber/patologia
Sistema Nervoso/patologia
[Mh] Termos MeSH secundário: Pré-Escolar
Transplante de Células-Tronco Hematopoéticas/efeitos adversos
Seres Humanos
Masculino
Doença dos Neurônios Motores/diagnóstico
Doença dos Neurônios Motores/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1610
[Cu] Atualização por classe:171018
[Lr] Data última revisão:
171018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150917
[St] Status:MEDLINE
[do] DOI:10.1007/s10545-015-9890-0


  10 / 29 MEDLINE  
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[PMID]:26526000
[Au] Autor:Gan JJ; Garcia V; Tian J; Tagliati M; Parisi JE; Chung JM; Lewis R; Baloh R; Levade T; Pierson TM
[Ad] Endereço:Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
[Ti] Título:Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.
[So] Source:Neuromuscul Disord;25(12):959-63, 2015 Dec.
[Is] ISSN:1873-2364
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is an extremely rare disorder related to the lysosomal storage disease, Farber lipogranulomatosis. Both disorders are autosomal recessive conditions caused by mutations in the ASAH1 gene encoding acid ceramidase. Farber disease is associated with joint deformities, lipomatous skin nodules, and often is fatal by 2-3 years of age; while SMA-PME is characterized by childhood-onset motor neuron disease and progressive myoclonic epilepsy. We report a case of SMA-PME with a novel mutation in the ASAH1 gene encoding acid ceramidase. The proband presented with childhood-onset of diffuse muscle atrophy and hypotonia. He also had diffuse weakness with greater proximal than distal involvement. Tongue fasciculations were present and his reflexes were either diminished or absent. He ambulated with an unsteady and hesitant gait. He subsequently developed myoclonic epilepsy along with other associated features including tremor, polymyoclonus, and sensorineural hearing loss. Neurophysiological studies revealed a motor neuron disorder and generalized epilepsy. Exome sequencing analysis identified compound heterozygous variants and biochemical analysis indicated acid ceramidase activity was approximately 12 percent of normal controls. Our proband was phenotypically similar to other cases of SMA-PME, albeit with somewhat lesser severity, slower progression, and greater longevity. As lysosomal disorders are sometimes amendable to early interventions, it is important to make early diagnoses in these cases. The combination of motor neuron disease and progressive myoclonic epilepsy should prompt genetic evaluation of ASAH1.
[Mh] Termos MeSH primário: Ceramidase Ácida/genética
Lipogranulomatose de Farber/genética
Atrofia Muscular Espinal/genética
Epilepsias Mioclônicas Progressivas/genética
[Mh] Termos MeSH secundário: Adulto
Atrofia
Encéfalo/fisiopatologia
Cerebelo/patologia
Lipogranulomatose de Farber/complicações
Lipogranulomatose de Farber/patologia
Lipogranulomatose de Farber/fisiopatologia
Seres Humanos
Masculino
Músculo Esquelético/ultraestrutura
Atrofia Muscular Espinal/complicações
Atrofia Muscular Espinal/patologia
Atrofia Muscular Espinal/fisiopatologia
Mutação
Epilepsias Mioclônicas Progressivas/complicações
Epilepsias Mioclônicas Progressivas/patologia
Epilepsias Mioclônicas Progressivas/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.5.1.23 (ASAH1 protein, human); EC 3.5.1.23 (Acid Ceramidase)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151104
[St] Status:MEDLINE



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