17番染色体に連鎖しパーキンソニズムを伴う前頭側頭型認知症
- 関
- FTDP-17
WordNet
- the means of connection between things linked in series (同)nexus
- a unit of length equal to 1/100 of a chain
- an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data (同)data link
- a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction" (同)linkup, tie, tie-in
- (computing) an instruction that connects one part of a program or an element on a list to another program or list
- make a light, metallic sound; go `ting
- a light clear metallic sound as of a small bell (同)tinkle
- cause to make a ting
- having a toe or toes of a specified kind; often used in combination; "long-toed; "five-toed"
PrepTutorEJDIC
- (鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》
- たいまつ
- 《語・句・節を対等に結んで》…『と』…,…や…,および / 《数詞を結合して》…『足す』…,…に加えて / …『しかも』…,…して,同時に… / 《時間的に》『そして』,それから,すると(and then) / 《当然の帰結として》…『ので』,…だから(and so) / 《おもに話》《命令文などの後で》『そうすれば』,そうしたら / 《追加・強調して》それに,しかも / 《対照的な内容を導いて》ところが,しかし(but) / 《譲歩的に》それなのに,それでいながら / 《A and Bで一体の関係を表して》《単数扱い》 / 《同一語を反復して多数・継続などを表して》 / 《同一の複数名詞を結合して変化・種類などを表して》 / 《話》《「形容詞+and+形容詞」の形で前の形容詞が後に副詞的に働く》 / 《話》《「動詞come, goなど+and+動詞」の形でandとその後の動詞が不定詞の働きをして》 / 《「動詞+and+動詞」の形で後の動詞が現在分詞の意を表して》 / 《話》《文頭において前の質問・意見などに同意を示して》そうとも,そして(Yes!and) / 《話》《文頭に置いて驚き・疑念・非難などを表して》ほんとうに;…なのに
- 《方向》(1)(到着の意を含めて)…『へ』,に,まで / 《状況の変化》…[のほう]へ;…に[なるまで],その結果…になる / 《適用範囲》(1)《動詞に伴って》『…に対して』,に,へ / (2)《形容詞[句]・[代]名倍に伴って》『…に対して』 / 《程度・範囲》『…[に至る]まで』 / 《時間の終り》『…まで』(till) / 《to one's+『名』の形で》(…が)『…したことに[は]』 / 《比較・対比・割合》『…と比べて』,より,に対して / 《一致・適合》『…に合わせて』,に合って,に応じて / 《目的・意図》『…のために』 / 《運命・境遇》『…に』 / 《所属・関係》『…へ』,に[対して] / 《付加・付着・固執》『…に』 / 《対立・対向》…に[対して] / いつもの状態(位置)に / 停止(閉鎖)の状態に / 活動状態に(へ),仕事に
- 《名詞的用法》『…すること』 / 《形容詞的用法》『…するための,すべき』 / 《副詞的用法》『…するために』,して,するとは,すれば / 《独立用法》 / 《文全体を修飾する慣用語句》…すれば,してみると,…だが / 短縮文
- …‘を'チリンチリナ(リンリン)と鳴らす / チリンチリン鳴る宴
- 足指のある / 《複合語を作って》足指が…の:five-toed 足指が5本の
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2017/11/23 10:32:50」(JST)
[Wiki en表示]
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative disorder and Parkinson plus syndrome,[1] which has three cardinal features: behavioral and personality changes, cognitive impairment, and motor symptoms. FTDP-17 was defined during the International Consensus Conference in Ann Arbor, Michigan, in 1996.
Contents
- 1 Pathophysiology
- 2 Diagnosis
- 3 Management
- 4 Prognosis
- 5 Epidemiology
- 6 References
- 7 Further reading
- 8 External links
Pathophysiology
The pathogenetic mechanisms underlying the disorder are thought to be related to the altered proportion of tau isoforms or to the ability of tau to bind microtubules and to promote microtubule assembly.
Diagnosis
Definitive diagnosis of FTDP-17 requires a combination of characteristic clinical and pathological features and molecular genetic analysis. Genetic counseling should be offered to affected and at-risk individuals; for most subtypes, penetrance is incomplete.
Management
Currently, treatment for FTDP-17 is only symptomatic and supportive.
Prognosis
The prognosis and rate of the diseases progression vary considerably among individual patients and genetic kindreds, ranging from life expectancies of several months to several years, and, in exceptional cases, as long as two decades.
Epidemiology
The prevalence and incidence remain unknown but FTDP-17 is an extremely rare condition. It is caused by mutations in the MAPT gene, which encodes a microtubule-binding protein. Over 100 families with 38 different mutations in the tau gene have been identified worldwide. The phenotype of FTDP-17 varies not only between families carrying different mutations but also between and within families carrying the same mutations.
References
- ^ Mitra K, Gangopadhaya PK, Das SK. (Jun 2003). "Parkinsonism plus syndrome--a review". Neurology India. 51 (2): 183–8. PMID 14570999.
Further reading
- Zbigniew K Wszolek, Yoshio Tsuboi, Bernardino Ghetti, Stuart Pickering-Brown, Yasuhiko Baba and William P Cheshire Orphanet Journal of Rare Diseases 2006, 1:30 doi:10.1186/1750-1172-1-30
External links
- Luc Buée; André Delacourte (1999). "Comparative Biochemistry of Tau in Progressive Supranuclear Palsy, Corticobasal Degeneration, FTDP-17 and Pick's Disease" (PDF). Brain Pathology. 9 (4): 681–693. doi:10.1111/j.1750-3639.1999.tb00550.x. PMID 10517507.
UpToDate Contents
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English Journal
- Mitochondrial hyperpolarization in iPSC-derived neurons from patients of FTDP-17 with 10+16 MAPT mutation leads to oxidative stress and neurodegeneration.
- Esteras N1, Rohrer JD2, Hardy J3, Wray S3, Abramov AY4.
- Redox biology.Redox Biol.2017 Aug;12:410-422. doi: 10.1016/j.redox.2017.03.008. Epub 2017 Mar 10.
- PMID 28319892
- Imaging tau pathology in Parkinsonisms.
- Coakeley S1,2, Strafella AP1,2,3.
- NPJ Parkinson's disease.NPJ Parkinsons Dis.2017 Jun 29;3:22. doi: 10.1038/s41531-017-0023-3. eCollection 2017.
- PMID 28685158
- MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17).
- Haussmann R1, Wysocki M1, Brandt MD2, Hermann A2, Donix M1.
- International psychogeriatrics.Int Psychogeriatr.2017 May;29(5):869-871. doi: 10.1017/S1041610216002192. Epub 2016 Dec 1.
- PMID 27905268
Japanese Journal
- 複雑怪奇なリン酸化タンパク質タウのPhos-tag解析
- FTDP-17の分子生物学 (認知症学(下)その解明と治療の最新知見) -- (臨床編)
- 培養細胞におけるタウ蛋白の分解における puromycin 感受性アミノペプチダーゼの関与とFTDP-17変異によるタウ蛋白質分解過程の遅延に関する検討
- Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society 9(4), 157-166, 2009-12-01
- NAID 10027275010
Related Links
- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is characterized by behavioral and cognitive abnormalities accompanied by parkinsonism [1]. Pathogenic mutations in the genes located on ...
- frontotemporal dementia and parkinsonism linked to chromosome 17 A rare, autosomal-dominant neurodegenerative disorder (“tauopathy”) with incomplete penetrance, which is characterised by: (1) behavioural and personality ...
★リンクテーブル★
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- 17番染色体に連鎖しパーキンソニズムを伴う前頭側頭型認知症
- 関
- frontotemporal dementia and parkinsonism linked to chromosome 17
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- 関
- associate、association、attach、bearing、bind、catenate、catenation、concatenation、connect、connection、correlate、correlation、implicate、implication、join、juncture、ligate、ligation、linkage、linked、pertinent、reference、relate、relation、relationship、relative、relevance、relevant
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- 関
- catenation、link、linkage
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- 関
- dementia、dementing、deterioration
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- 足指のある、つま先のある、(くぎを)斜めに打ち込んだ