hyperkinesia

出典: meddic

hyperactivityhyperkinesishyperkinetichyperkinetic movementmotor hyperactivity
hyperkinesis

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/10/16 12:14:00」(JST)

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英文文献

  • Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
  • Tran Mau-Them F1, Willems M1, Albrecht B2, Sanchez E1, Puechberty J1, Endele S3, Schneider A4, Ruiz Pallares N5, Missirian C6, Rivier F7, Girard M4, Holder M8, Manouvrier S8, Touitou I9, Lefort G4, Sarda P1, Moncla A7, Drunat S10, Wieczorek D2, Genevieve D1.Author information 1Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.2Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg-Essen Hufelandstr, Essen, Germany.3Humangenetisches Institut Erlangen, Universitat Erlangen-Nurnberg, Erlangen, Germany.4Service de Genetique Chromosomique, Plateforme Puce a ADN, Hopital Arnaud de Villeneuve, CHRU Montpellier,Montpellier, France.51] Service de Genetique Chromosomique, Plateforme Puce a ADN, Hopital Arnaud de Villeneuve, CHRU Montpellier,Montpellier, France [2] Laboratoire de Genetique, Unite Medicale des Maladies Auto-Inflammatoire, Hopital Arnaud de Villeneuve, CHRU Montpellier, Faculte de Medecine, Universite Montpellier, Montpellier, France.6Département de génétique médicale, Unité de génétique clinique, CHU de Marseille, Hôpital de la Timone, Marseille, France.7Departement de Neuropediatrie, Hopital St Eloi, CHRU Montpellier, Montpellier, France.8Departement de Genetique, Hopital Jeanne de Flandre, CHRU Lille, Lille, France.9Laboratoire de Genetique, Unite Medicale des Maladies Auto-Inflammatoire, Hopital Arnaud de Villeneuve, CHRU Montpellier, Faculte de Medecine, Universite Montpellier, Montpellier, France.10UF de Genetique Moleculaire et de Biochimie, Pole Biologie et Pharmacie, CHU Robert Debre, APHP.AbstractIntellectual disability (ID) is frequent in the general population, with 1 in 50 individuals directly affected worldwide. The multiple etiologies include X-linked ID (XLID). Among syndromic XLID, few syndromes present severe ID associated with postnatal microcephaly and midline stereotypic hand movements. We report on three male patients with ID, midline stereotypic hand movements, hypotonia, hyperkinesia, strabismus, as well as seizures (2/3), and non-inherited and postnatal onset microcephaly (2/3). Using array CGH and exome sequencing we characterised two truncating mutations in IQSEC2, namely two de novo intragenic duplication mapped to the Xp11.22 region and a nonsense mutation in exon 7. We propose that truncating mutations in IQSEC2 are responsible for syndromic severe ID in male patients and should be screened in patients without mutations in MECP2, FOXG1, CDKL5 and MEF2C.
  • European journal of human genetics : EJHG.Eur J Hum Genet.2014 Feb;22(2):289-92. doi: 10.1038/ejhg.2013.113. Epub 2013 May 15.
  • Intellectual disability (ID) is frequent in the general population, with 1 in 50 individuals directly affected worldwide. The multiple etiologies include X-linked ID (XLID). Among syndromic XLID, few syndromes present severe ID associated with postnatal microcephaly and midline stereotypic hand move
  • PMID 23674175
  • Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome.
  • O'Keefe JA1, Espinoza Orías AA2, Khan H2, Hall DA3, Berry-Kravis E4, Wimmer MA5.Author information 1Department of Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL 60612, United States.2Motion Analysis Laboratory, Department of Orthopedic Surgery, Rush University Medical Center, Chicago, IL 60612, United States.3Department of Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, United States.4Department of Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, United States; Department of Pediatrics, Rush University Medical Center, Chicago, IL 60612, United States; Department of Biochemistry, Rush University Medical Center, Chicago, IL 60612, United States.5Department of Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL 60612, United States; Motion Analysis Laboratory, Department of Orthopedic Surgery, Rush University Medical Center, Chicago, IL 60612, United States. Electronic address: Markus_A_Wimmer@rush.edu.AbstractHyperactive behavior - and implicitly, motion - in Fragile X syndrome (FXS) has been historically described using behavioral rating scales. While rating scales are the current standard outcome measures used in clinical research, they have limitations including their qualitative nature and subjectivity. The advent of new motion capture technologies has provided the opportunity to develop quantitative methods for measuring hyperactive motion. The hypotheses for this study were that a novel markerless motion analysis method (1) can quantitatively measure kinematic parameters, (2) can differentiate the level of hyperkinesis between control and FXS populations, and (3) will correlate with blind-reviewer synchronous video-capture methods and behavioral rating scale scores. Twenty young males (7-control, 13-FXS; ages 9-32) were studied using a standardized protocol in a markerless motion analysis suite. Behavioral scale questionnaires were filled out by parents and those scores were correlated with motion parameters (frequency and total traveled distance) of body segments during 30s of story listening while standing in the observation space. The markerless system was able to track subjects and the two populations displayed significantly different quantities of motion, with larger amounts of motion in the FXS group (p<0.05). Pearson's correlation coefficients between frequency counts obtained from the markerless system and rater-based video capture were between 0.969 and 0.996 (p<0.001). Significant correlations between rating scale scores and motion parameters ranged from 0.462≤r≤0.568 (p≤0.040). These results suggest feasibility and validity of a markerless system as a non-invasive method able to quantify motion in individuals with hyperkinesis.
  • Gait & posture.Gait Posture.2014 Feb;39(2):827-30. doi: 10.1016/j.gaitpost.2013.10.017. Epub 2013 Oct 28.
  • Hyperactive behavior - and implicitly, motion - in Fragile X syndrome (FXS) has been historically described using behavioral rating scales. While rating scales are the current standard outcome measures used in clinical research, they have limitations including their qualitative nature and subjectivi
  • PMID 24252602
  • Intrajugular Vein Delivery of AAV9-RNAi Prevents Neuropathological Changes and Weight Loss in Huntington's Disease Mice.
  • Dufour BD1, Smith CA2, Clark RL2, Walker TR2, McBride JL3.Author information 11] Department of Behavioral Neuroscience, Oregon Health and Science University, Portland, Oregon, USA [2] Division of Neuroscience, Oregon National Primate Research Center, Beaverton, Oregon, USA.2Division of Neuroscience, Oregon National Primate Research Center, Beaverton, Oregon, USA.31] Department of Behavioral Neuroscience, Oregon Health and Science University, Portland, Oregon, USA [2] Division of Neuroscience, Oregon National Primate Research Center, Beaverton, Oregon, USA [3] Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA.AbstractHuntington's disease (HD) is a fatal neurological disorder caused by a CAG repeat expansion in the HTT gene, which encodes a mutant huntingtin protein (mHTT). The mutation confers a toxic gain of function on huntingtin, leading to widespread neurodegeneration and inclusion formation in many brain regions. Although the hallmark symptom of HD is hyperkinesia stemming from striatal degeneration, several other brain regions are affected which cause psychiatric, cognitive, and metabolic symptoms. Additionally, mHTT expression in peripheral tissue is associated with skeletal muscle atrophy, cardiac failure, weight loss, and diabetes. We, and others, have demonstrated a prevention of motor symptoms in HD mice following direct striatal injection of adeno-associated viral vector (AAV) serotype 1 encoding an RNA interference (RNAi) construct targeting mutant HTT mRNA (mHTT). Here, we expand these efforts and demonstrate that an intrajugular vein injection of AAV serotype 9 (AAV9) expressing a mutant HTT-specific RNAi construct significantly reduced mHTT expression in multiple brain regions and peripheral tissues affected in HD. Correspondingly, this approach prevented atrophy and inclusion formation in key brain regions as well as the severe weight loss germane to HD transgenic mice. These results demonstrate that systemic delivery of AAV9-RNAi may provide more widespread clinical benefit for patients suffering from HD.Molecular Therapy (2014); doi:10.1038/mt.2013.289.
  • Molecular therapy : the journal of the American Society of Gene Therapy.Mol Ther.2014 Jan 6. doi: 10.1038/mt.2013.289. [Epub ahead of print]
  • Huntington's disease (HD) is a fatal neurological disorder caused by a CAG repeat expansion in the HTT gene, which encodes a mutant huntingtin protein (mHTT). The mutation confers a toxic gain of function on huntingtin, leading to widespread neurodegeneration and inclusion formation in many brain re
  • PMID 24390280

和文文献

  • 足部内反尖足により歩行困難であった脳血管障害片麻痺患者
  • 古賀 和美,鈴木 俊明,米田 浩久
  • 関西鍼灸大学紀要 2, 95-100, 2005-05-03
  • 本症例は約3年前に発症した脳血管障害による左片麻痺患者である。屋内歩行動作では麻痺側立脚初期から中期に内反尖足が出現、上部体幹の屈曲・右回旋がみられた。歩行動作の特徴点は内反尖足による麻痺側立脚中期の不安定性であるが非麻痺側の過剰な筋活動による連合反応の影響を考え体幹アライメント異常に着目した。問題点を非麻痺側腹斜筋群の過剰収縮のため上部体幹を屈曲・右回旋することで足部内反を抑制する結果、重心が前 …
  • NAID 110004630900
  • 分廻し歩行を呈する右片麻痺患者における歩行時の麻痺側離床動作と体幹筋の活動について
  • 森 健浩,米田 浩久,鈴木 俊明
  • 関西鍼灸大学紀要 2, 89-94, 2005-05-03
  • 今回歩行時麻痺側離床が困難で分回しがみられ不安定性のある右片麻痺患者について1回の治療を行い表面筋電図評価にて効果を検討したので報告する。右片麻痺患者1名を対象とし両側の内腹斜筋、外腹斜筋、多裂筋、後脛骨筋の計測を行なった。課題は1安静立位、2右ステップ肢位、3左ステップ肢位とした。課題1を基準とした課題2・3の筋積分値相対値を算出した。治療前後で計測を行なった。本症例は麻痺側立脚期に麻痺側内腹斜 …
  • NAID 110004630899
  • 多動傾向が観察される子どもの運動調整力
  • 樋口 恵里子,植屋 摩紀,植屋 節子 他
  • 浦和論叢 (30), 145-152, 2003-06-00
  • NAID 40006334109

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★リンクテーブル★
リンク元hyperactivity」「多動」「hyperkinesis」「運動亢進」「運動過多症

hyperactivity」

  [★]

  • n.
hyperactivehyperfunctionhyperfunctioninghyperkinesiahyperkinesisincreased activityoveractivity

WordNet   license wordnet

「a condition characterized by excessive restlessness and movement」


多動」

  [★]

hyperkinesishyperkinesiamotor hyperactivityhyperkinetic
過運動増動
運動亢進運動亢進症運動過剰運動過多



hyperkinesis」

  [★]

  • n.
hyperactivityhyperkinesiahyperkinetichyperkinetic movementmotor hyperactivity


運動亢進」

  [★]

hyperactivityhyperkinesishyperkinesia
運動亢進症活動亢進機能亢進多動運動過剰運動過多


運動過多症」

  [★]

hyperkinesia, hypercinesia
運動過多異常運動abnormal movement
運動過多


-運動過多




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