遺伝性脊髄小脳変性症
- 関
- hereditary ataxia、Marinesco-Sjogren syndrome、spinocerebellar degeneration、spinocerebellar disease
WordNet
- receive from a predecessor; "The new chairman inherited many problems from the previous chair"
- obtain from someone after their death; "I inherited a castle from my French grandparents"
- receive by genetic transmission; "I inherited my good eyesight from my mother"
- the process of declining from a higher to a lower level of effective power or vitality or essential quality (同)devolution
- passing from a more complex to a simpler biological form (同)retrogression
PrepTutorEJDIC
- (…から)〈財産・権利・称号など〉‘を'『相続する』《+『名』+『from』+『名』》 / (…から)〈体質・性質など〉‘を'『受け継ぐ』《+『名』+『from』+『名』》 / (前任者・前代から)…‘を'受け継ぐ,継承ぐ,継承する《+『名』+『from』+『名』》 / 財産を相続する
- 退歩,退化,墜落
UpToDate Contents
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English Journal
- Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
- Kastrissianakis K, Anand G, Quaghebeur G, Price S, Prabhakar P, Marinova J, Brown G, McShane T.Author information Department of Paediatric Neurology, Oxford University Hospitals, , Oxford, UK.AbstractMutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. The disorder was named pontocerebellar hypoplasia type 6 (PCH6) based on the corresponding radiological findings observed in the original cases. We report two siblings with the RARS2 mutation who displayed typical clinical features of PCH6, but who had distinct neuroimaging features. Early scans showed marked supratentorial, rather than infratentorial, atrophy, and the pons remained preserved throughout. One sibling also had bilateral subdural effusions at presentation. The deceleration in head growth pointed to an evolving genetic/metabolic process giving rise to cerebral atrophy and secondary subdural effusions. RARS2 mutations should be considered in infants presenting with seizures, subdural effusions, decelerating head growth and evidence of cerebral atrophy even in the absence of pontocerebellar hypoplasia on imaging.
- Archives of disease in childhood.Arch Dis Child.2013 Dec;98(12):1004-7. doi: 10.1136/archdischild-2013-304308. Epub 2013 Sep 18.
- Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. The disorder was named pontocerebellar hypoplasia type 6 (PCH6) based on the corr
- PMID 24047924
- Purkinje cell loss is the major brain pathology of spinocerebellar ataxia type 10.
- Xia G, McFarland KN, Wang K, Sarkar PS, Yachnis AT, Ashizawa T.Author information Department of Neurology and The McKnight Brain Institute, College of Medicine, University of Florida, , Gainesville, Florida, USA.KEYWORDS: Cerebellar Ataxia, Cerebellar Degeneration, Neurogenetics, Pathology
- Journal of neurology, neurosurgery, and psychiatry.J Neurol Neurosurg Psychiatry.2013 Dec;84(12):1409-11. doi: 10.1136/jnnp-2013-305080. Epub 2013 Jun 29.
- PMID 23813740
- Retinal segmentation as noninvasive technique to demonstrate hyperplasia in ataxia of Charlevoix-Saguenay.
- Garcia-Martin E, Pablo LE, Gazulla J, Vela A, Larrosa JM, Polo V, Marques ML, Alfaro J.Author information Department of Ophthalmology, Hospital Universitario Miguel Servet, Zaragoza, Spain.AbstractPURPOSE: To present a new retinal layer segmentation technique for evaluation of nerve fiber hyperplasia in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
- Investigative ophthalmology & visual science.Invest Ophthalmol Vis Sci.2013 Oct 29;54(10):7137-42. doi: 10.1167/iovs.13-12726.
- PURPOSE: To present a new retinal layer segmentation technique for evaluation of nerve fiber hyperplasia in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).METHODS: Five patients with a molecular diagnosis of ARSACS and five age- and sex-matched healthy controls unde
- PMID 24114536
Japanese Journal
- 市原 伸恒,イチハラ ノブツネ,Nobutsune Ichihara
- 麻布大学雑誌 13/14, 120-124, 2006
- Wistar系ラットの突然変異体として発見された,振戦を示すミュータントラット(振戦ラット)の組織学的変化について検討した。本研究では生後5,9,13,17,48週齢の振戦ラットについて,HE染色標本観察によるプルキンエ細胞数の変化や形態学的変化を観察した。また,星状膠細胞の動態を調べるために抗Glial Fibrillary Acidic Protein (GFAP)免疫染色を,小脳や小脳関連神 …
- NAID 110006391498
Related Links
- The following is a list of some, not all, types of Spinocerebellar ataxia. The first ataxia gene was identified in 1993 for a dominantly inherited type. It was called “ Spinocerebellar ataxia type 1" (SCA1). Subsequently, as additional dominant ...
- 8 Mar 2012 ... Ataxias and Cerebellar/Spinocerebellar Degeneration information sheet compiled by the National Institute of Neurological ... Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: ...
★リンクテーブル★
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- 英
- inherited spinocerebellar degeneration
- 関
- 脊髄小脳変性症
- 遺伝性運動失調症、脊髄小脳疾患、マリネスコ・シェーグレン症候群
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脊髄小脳疾患
- 関
- hereditary ataxia、inherited spinocerebellar degeneration、Marinesco-Sjogren syndrome、spinocerebellar degeneration
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- 関
- degeneracy、degenerate、degenerative、denaturation、denature、involution、retract、retrograde degeneration、retrograde degradation、unfolding
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- 関
- hereditary、heredity、inheritance
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- 関
- hereditary、heritable、inheritable、inheritable character
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脊髄小脳変性症 SCD