type 1 Gaucher disease

出典: meddic

ゴーシェ病1型1型ゴーシェ病1型Gaucher病

Gaucher diseaseGaucher's diseasetype 2 Gaucher diseasetype 3 Gaucher disease

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

英文文献

  • Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.
  • Li Y1, Sekine T2, Funayama M1, Li L2, Yoshino H3, Nishioka K2, Tomiyama H4, Hattori N5.Author information 1Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Tokyo, Japan; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.2Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.3Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Tokyo, Japan.4Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine, Tokyo, Japan.5Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Tokyo, Japan; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine, Tokyo, Japan. Electronic address: nhattori@juntendo.ac.jp.AbstractThe glucocerebrosidase gene (GBA) is a known risk factor of Parkinson's disease (PD). We sequenced entire coding exons and exon/intron boundaries of GBA in 147 Japanese familial PD (FPD) patients from 144 families and 100 unrelated control subjects. Twenty-seven of 144 (18.8%) of index patients were heterozygous for known Gaucher disease mutations, suggesting that GBA heterozygous mutations are strongly associated with FPD (odds ratio = 22.9, 95% confidence interval = 3.1-171.2). The frequency was significantly higher in autosomal dominant PD (ADPD) compared with autosomal recessive PD. According to clinical assessments, PD patients with GBA mutations exhibited typical manifestations of PD or dementia with Lewy bodies (DLB), such as L-dopa responsive parkinsonism with psychiatric problems and/or cognitive decline. Interestingly, they also presented with reduced myocardial (123)I-metaiodobenzylguanidine uptake. Our findings suggest that heterozygous GBA mutations are strong risk factors in FPD, especially for autosomal dominant PD. Some patients with GBA heterozygous mutations develop clinical features of DLB. We speculate that GBA dysfunction may promote Lewy body formation, resulting in more severe PD or DLB phenotypes that are inherited in families.
  • Neurobiology of aging.Neurobiol Aging.2014 Apr;35(4):935.e3-8. doi: 10.1016/j.neurobiolaging.2013.09.019. Epub 2013 Oct 12.
  • The glucocerebrosidase gene (GBA) is a known risk factor of Parkinson's disease (PD). We sequenced entire coding exons and exon/intron boundaries of GBA in 147 Japanese familial PD (FPD) patients from 144 families and 100 unrelated control subjects. Twenty-seven of 144 (18.8%) of index patients were
  • PMID 24126159
  • Development and application to clinical practice of a validated HPLC method for the analysis of β-glucocerebrosidase in Gaucher disease.
  • Colomer EG1, Gómez MA2, Alvarez AG3, Martí MC4, Moreno PL5, Zarzoso MF5, Jiménez-Torres NV6.Author information 1Pharmacy Service, Dr. Peset University Hospital, Valencia, Spain; Foundation for the Promotion of Healthcare and Biomedical Research in the Valencian Community (FISABIO), Valencia, Spain. Electronic address: gras_ele@gva.es.2Pharmacy Service, Dr. Peset University Hospital, Valencia, Spain; Foundation for the Promotion of Healthcare and Biomedical Research in the Valencian Community (FISABIO), Valencia, Spain. Electronic address: martinez_margoma@gva.es.3Pharmacy Service, Obispo Polanco Hospital, Teruel, Spain. Electronic address: gonzalez_alealv@gva.es.4Pharmacy Service, Dr. Peset University Hospital, Valencia, Spain; Department of Pharmacy Technology, Faculty of Pharmacy, University of Valencia, Valencia, Spain. Electronic address: climente_mon@gva.es.5Haematology Service, Dr Peset University Hospital, Valencia, Spain.6Pharmacy Service, Dr. Peset University Hospital, Valencia, Spain; Royal National Academy of Pharmacy Member, Spain.AbstractThe main objective of our study is to develop a simple, fast and reliable method for measuring β-glucocerebrosidase activity in Gaucher patients leukocytes in clinical practice. This measurement may be a useful marker to drive dose selection and early clinical decision making of enzyme replacement therapy. We measure the enzyme activity by high-performance liquid chromatography with ultraviolet detection and 4-nitrophenyl-β-d-glucopyranoside as substrate. A cohort of eight Gaucher patients treated with enzyme replacement therapy and ten healthy controls were tested; median enzyme activity values was 20.57mU/ml (interquartile range 19.92-21.53mU/ml) in patients and mean was 24.73mU/ml (24.12-25.34mU/ml) in the reference group, which allowed the establishment of the normal range of β-glucocerebrosidase activity. The proposed method for leukocytes glucocerebrosidase activity measuring is fast, easy to use, inexpensive and reliable. Furthermore, significant differences between both populations were observed (p=0.008). This suggests that discerning between patients and healthy individuals and providing an approach to enzyme dosage optimization is feasible. This method could be considered as a decision support tool for clinical monitoring. Our study is a first approach to in depth analysis of enzyme replacement therapy and optimization of dosing therapies.
  • Journal of pharmaceutical and biomedical analysis.J Pharm Biomed Anal.2014 Mar 25;91:123-30. doi: 10.1016/j.jpba.2013.12.027. Epub 2014 Jan 3.
  • The main objective of our study is to develop a simple, fast and reliable method for measuring β-glucocerebrosidase activity in Gaucher patients leukocytes in clinical practice. This measurement may be a useful marker to drive dose selection and early clinical decision making of enzyme replacement
  • PMID 24447963
  • Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.
  • Farfel-Becker T, Vitner EB, Kelly SL, Bame JR, Duan J, Shinder V, Merrill AH Jr, Dobrenis K, Futerman AH.Author information Departments of Biological Chemistry and.AbstractGaucher disease has recently received wide attention due to the unexpected discovery that it is a genetic risk factor for Parkinson's disease. Gaucher disease is caused by the defective activity of the lysosomal enzyme, glucocerebrosidase (GCase; GBA1), resulting in intracellular accumulation of the glycosphingolipids, glucosylceramide and psychosine. The rare neuronopathic forms of GD (nGD) are characterized by profound neurological impairment and neuronal cell death. We have previously described the progression of neuropathological changes in a mouse model of nGD. We now examine the relationship between glycosphingolipid accumulation and initiation of pathology at two pre-symptomatic stages of the disease in four different brain areas which display differential degrees of susceptibility to GCase deficiency. Liquid chromatography electrospray ionization tandem mass spectrometry demonstrated glucosylceramide and psychosine accumulation in nGD brains prior to the appearance of neuroinflammation, although only glucosylceramide accumulation correlated with neuroinflammation and neuron loss. Levels of other sphingolipids, including the pro-apoptotic lipid, ceramide, were mostly unaltered. Transmission electron microscopy revealed that glucosylceramide accumulation occurs in neurons, mostly in the form of membrane-delimited pseudo-tubules located near the nucleus. Highly disrupted glucosylceramide-storing cells, which are likely degenerating neurons containing massive inclusions, numerous autophagosomes and unique ultrastructural features, were also observed. Together, our results indicate that a certain level of neuronal glucosylceramide storage is required to trigger neuropathological changes in affected brain areas, while other brain areas containing similar glucosylceramide levels are unaltered, presumably because of intrinsic differences in neuronal properties, or in the neuronal environment, between various brain regions.
  • Human molecular genetics.Hum Mol Genet.2014 Feb 15;23(4):843-54. doi: 10.1093/hmg/ddt468. Epub 2013 Sep 24.
  • Gaucher disease has recently received wide attention due to the unexpected discovery that it is a genetic risk factor for Parkinson's disease. Gaucher disease is caused by the defective activity of the lysosomal enzyme, glucocerebrosidase (GCase; GBA1), resulting in intracellular accumulation of the
  • PMID 24064337

和文文献

  • Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in TypeGaucher Disease
  • Cholelithiasis in a Patient with Type 2 Gaucher Disease
  • 症例 コロジオン児として出生したGaucher病2型の1例

関連リンク

Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder; it occurs more frequently in people of Ashkenazi (eastern and central European ...
Type 1. Information for patients, relatives, doctors and researchers on Gauchers disease from the independent charity The Gauchers Association ... Type 1 Gaucher disease, the most common form, is often but misleadingly referred ...

関連画像


押しても画像が表示されない場合はサーバが混雑しています。2週間ほどあけて、再度押下してください。


★リンクテーブル★
リンク元type 2 Gaucher disease」「type 3 Gaucher disease」「ゴーシェ病1型」「1型Gaucher病」「1型ゴーシェ病
関連記事type」「disease」「diseased」「typing」「typed

type 2 Gaucher disease」

  [★]

2型ゴーシェ病ゴーシェ病2型2型Gaucher病

Gaucher diseaseGaucher's diseasetype 1 Gaucher diseasetype 3 Gaucher disease


type 3 Gaucher disease」

  [★]

3型ゴーシェ病ゴーシェ病3型3型Gaucher病

Gaucher diseaseGaucher's diseasetype 1 Gaucher diseasetype 2 Gaucher disease


ゴーシェ病1型」

  [★]

type 1 Gaucher disease
ゴーシェ病ゴーシェ病2型ゴーシェ病3型1型ゴーシェ病1型Gaucher病


1型Gaucher病」

  [★]

type 1 Gaucher disease
ゴーシェ病1型1型ゴーシェ病


1型ゴーシェ病」

  [★]

type 1 Gaucher disease
ゴーシェ病1型1型Gaucher病


type」

  [★]

  • n.
(windows)ファイル内容表示(linux -> cat])
ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
formmodepatterntype specimentyped

WordNet   license wordnet

「write by means of a keyboard with types; "type the acceptance letter, please"」
typewrite

WordNet   license wordnet

「(biology) the taxonomic group whose characteristics are used to define the next higher taxon」

WordNet   license wordnet

「a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"」

WordNet   license wordnet

「all of the tokens of the same symbol; "the word `element'' contains five different types of character"」

WordNet   license wordnet

「printed characters; "small type is hard to read"」

PrepTutorEJDIC   license prepejdic

「〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ」

WordNet   license wordnet

「a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"」

WordNet   license wordnet

「identify as belonging to a certain type; "Such people can practically be typed"」
typecast


disease」

  [★]

  • n.
疾患illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
  • something that is very wrong with people's attitudes, way of life or with society.
ailailmentdisease entitydisorderillillnessmaladysicksickness
  • 注意
diseaseillnessdisorder


WordNet   license wordnet

「an impairment of health or a condition of abnormal functioning」

PrepTutorEJDIC   license prepejdic

「(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊」

PrepTutorEJDIC   license prepejdic

「女性の話術芸人 =diseur」


diseased」

  [★]

WordNet   license wordnet

「caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes"」
morbid, pathologic, pathological

PrepTutorEJDIC   license prepejdic

「病気にかかった / 病的な,不健全な(morbid)」


typing」

  [★]

  • n.
  • タイプで打つこと、タイピング。分類


WordNet   license wordnet

「writing done with a typewriter」
typewriting


typed」

  [★]

  • adj.
  • 型の
formmodepatterntype




★コメント★

[メモ入力エリア]
※コメント5000文字まで
ニックネーム:
コメント:




表示
個人用ツール


  meddic.jp

リンク
連絡