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1. 症候性（二次性）ミオクローヌスsymptomatic secondary myoclonus [show details]
…myoclonus is a major feature of the rare, genetically heterogeneous syndromes known as progressive myoclonic epilepsy (PME) and progressive myoclonic ataxia (PMA). The latter is also known as dyssynergia …
2. ミオクローヌスの分類および評価classification and evaluation of myoclonus [show details]
…Encephalopathies, including hypoxia ; Neurodegenerative diseases; Focal nervous system damage; Progressive myoclonic epilepsy; Progressive myoclonus ataxia; Infectious and postinfectious disorders; Autoimmune inflammatory…
3. ミオクローヌスの治療treatment of myoclonus [show details]
…with important examples) are as follows: Cortical myoclonus (eg, posthypoxic myoclonus, progressive myoclonus epilepsy and progressive myoclonus ataxia syndromes, most cases of toxic-metabolic myoclonus, …
4. 若年性ミオクローヌスてんかんjuvenile myoclonic epilepsy [show details]
…(IPOE), and symptomatic myoclonus related to a more severe epilepsy syndrome, such as progressive myoclonic epilepsy (PME). Many of these syndromes have overlapping clinical features and resemble each other …
5. ドラベ症候群：遺伝学、臨床的特徴、診断dravet syndrome genetics clinical features and diagnosis [show details]
…seizures, Lennox-Gastaut syndrome (LGS), myoclonic-astatic epilepsy (Doose syndrome), progressive myoclonus epilepsy (PME), severe infantile multifocal epilepsy (SIMFE), and PCDH19-related epilepsy (previously …

English Journal

[Low-dose perampanel improved cortical myoclonus and basophobia in a patient with Unverricht-Lundborg disease: a case report].

Oi Y, Kobayashi K, Hitomi T, Matsumoto R, Ikeda A, Takahashi R.
Rinsho shinkeigaku = Clinical neurology. 2018 Oct;58(10)622-625.
We report a 32-year-old female who presented myoclonus and generalized tonic-clonic seizure since she was 9 year-old. Thereafter, she was diagnosed as Unverricht-Lundborg disease by gene analysis. Although the epileptic seizures were controlled by multiple antiepileptic drugs, her cortical myoclonus
PMID 30270337

First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea.

Kim KH, Song JS, Park CW, Ki CS, Heo K.
Yonsei medical journal. 2018 Aug;59(6)798-800.
Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associa
PMID 29978618

A clinical and neurophysiological motor signature of Unverricht-Lundborg disease.

Hainque E, Blancher A, Mesnage V, Rivaud-Pechoux S, Bertrand A, Dupont S, Navarro V, Roze E, Gourfinkel-An I, Apartis E.
Revue neurologique. ;174(1-2)56-65.
Unverricht-Lundborg disease (ULD) is the most common form of progressive myoclonus epilepsy. Cerebellar dysfunction may appear over time, contributing along with myoclonus to motor disability. The purpose of the present work was to clarify the motor and neurophysiological characteristics of ULD pati
PMID 28688606

Japanese Journal

Myoclonic encephalopathy in non-progressive disordersの3例

上田理誉,中川栄二,須貝研司,竹下絵里,本橋裕子,石山昭彦,齋藤貴志,小牧宏文,佐々木征行
てんかん研究 35(1), 66-73, 2017
… <p>Myoclonic encephalopathy in non―progressive disorders（MEND）はミオクロニー発作重積の反復を特徴とし、乳幼児期に発症し重度精神運動発達遅滞を来たす予後不良な疾患である。 …
NAID 130005701402

免疫グロブリン治療が奏効したてんかん性脳症例

元木崇裕,佐々木征行,中川栄二,小一原玲子,高橋幸利,竹下絵里,石山昭彦,齋藤貴志,小牧宏文,須貝研司
脳と発達 48(4), 277-281, 2016
てんかん発症までの発達は問題なかった. 6歳9カ月頃より全般性強直間代発作, ミオクローヌス発作を認め, てんかんと診断され抗てんかん薬が開始された. 7歳2カ月時, 長時間脳波で明らかな発作時脳波異常を認めず偽発作の可能性も考慮され一旦抗てんかん薬が中止された. 発作は改善せず, 次第に歩行困難となり発語が減少し食事や排泄に介助が必要となった. 半年間で知能指数 (IQ) が92から …
NAID 130006144374