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1. ミオクローヌスの分類および評価classification and evaluation of myoclonus [show details]
… tremor with epilepsy; Isolated myoclonus is seen in primary progressive myoclonus of aging and familial cortical myoclonus. Symptomatic myoclonus occurs as a secondary symptom of a neurologic or non-neurologic …
2. ミオクローヌスの治療treatment of myoclonus [show details]
… and myoclonus epilepsy with red ragged fibers), benign adult familial myoclonic epilepsy, asterixis (ie, negative myoclonus), posthypoxic myoclonus, and Creutzfeldt-Jakob disease. The myoclonus in corticobasal …
3. 症候性（二次性）ミオクローヌスsymptomatic secondary myoclonus [show details]
… prevalence of myoclonus increases steadily during disease progression, and up to 50 percent of patients with AD eventually develop myoclonus. An earlier age of AD onset, faster progression, or familial causes …
4. 小児における運動過多な運動障害hyperkinetic movement disorders in children [show details]
… phenotypic spectrum with various manifestations including familial dyskinesia and facial myokymia, dystonia, benign hereditary chorea, myoclonus, marked axial hypotonia, episodic and fluctuating painful …
5. 遺伝性運動失調の概要overview of the hereditary ataxias [show details]
… Ataxia and myoclonus can be produced by a variety of mitochondrial lesions. They include large deletions and duplications characteristic of Kearns-Sayre syndrome and maternally-inherited point mutations …

English Journal

Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome.

Rachad L, El Otmani H, Karkar A, El Moutawakil B, El Kadmiri N, Nadifi S.
Neuroscience letters. 2019 Jun;703()1-4.
Myoclonus-Dystonia (M-D) is a rare autosomal-dominant movement disorder characterized by myoclonic jerks in combination with dystonia and psychiatric features. Mutations in the Epsilon-sarcoglycan (SGCE, DYT11) gene have been found to cause M-D in 30%-50% of familial M-D. Sporadic cases have also be
PMID 30849405

A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.

Algahtani H, Al-Hakami F, Al-Shehri M, Shirah B, Al-Qahtani MH, Abdulkareem AA, Naseer MI.
Seizure. 2019 Apr;69()133-139.
Progressive myoclonus epilepsy (PME) comprises a group of heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. A numb
PMID 31035234
PMID 20301644

Japanese Journal

外耳道骨折を併発した下顎骨正中部骨折の1例

山本大介,目瀬浩
日本口腔外科学会雑誌 64(5), 274-278, 2018
… He had hypertension, diabetes mellitus, sleep apnea syndrome, and familial myoclonus epilepsy. …
NAID 130007399740

Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.

Wada Takahito,Takano Kyoko,Tsurusaki Yoshinori,Miyake Noriko,Nakashima Mitsuko,Saitsu Hirotomo,Matsumoto Naomichi,Osaka Hitoshi
Pediatrics international 57(2), 324-326, 2015-04-03
… Myoclonus-dystonia syndrome (MDS) is a rare autosomal-dominant movement disorder characterized by brief, frequently alcohol-responsive myoclonic jerks that begin in childhood or early adolescence, caused by mutations in the ε-sarcoglycan gene (SGCE). … Myoclonus was likely to develop when he felt anxiety or exhaustion. …
NAID 120005666180

良性成人型家族性ミオクローヌスてんかん（BAFME）の最近の進歩：進行性疾患か?

人見健文,髙橋良輔,池田昭夫
臨床神経学 54(12), 1142-1145, 2014
良性成人型家族性ミオクローヌスてんかん（BAFME）は，常染色体優性遺伝で成人発症の皮質振戦と稀発全般てんかん発作を主徴とする．良性だが高齢者では皮質振戦の進行例もある．そこでBAFMEの進行性を検討した．加齢にともない皮質振戦は顕著となり，巨大SEPの振幅はさらに増大した．これにより加齢による一次運動感覚野の過興奮の増大が，皮質振戦を悪化させると考えられた．また母系由来でより顕著な臨床的表現促進 …
NAID 130004921160