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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]
… disorders that have a characteristic myoclonus physiology, and guide treatment options that may be useful for some physiologic types of myoclonus but not others . Cortical myoclonus originates with a focal discharge …
2. ミオクローヌスの治療treatment of myoclonus [show details]
… classification of the myoclonus in question. This topic will review the treatment of myoclonus. The treatment of myoclonic epilepsy is discussed separately. Other clinical aspects of myoclonus are reviewed elsewhere …
3. 症候性（二次性）ミオクローヌスsymptomatic secondary myoclonus [show details]
… (secondary) myoclonus. Other aspects of myoclonus are reviewed separately. The classification scheme of Marsden and colleagues uses four major categories to organize the numerous etiologies of myoclonus : Physiologic; …
4. 遺伝性運動失調の概要overview of the hereditary ataxias [show details]
…chromosome 9q34, have been identified in many COX deficient patients with Leigh syndrome. Ataxia and myoclonus can be produced by a variety of mitochondrial lesions. They include large deletions and duplications …
5. オプソクローヌス・ミオクローヌス症候群opsoclonus myoclonus syndrome [show details]
… Opsoclonus-myoclonus syndrome (OMS), also known as opsoclonus myoclonus ataxia, is a syndrome that includes opsoclonus along with diffuse or focal body myoclonus and truncal titubation with or without …

English Journal

Progressive myoclonic epilepsy and horizontal gaze palsy: a rare aetiology.

Singh R, Choudhary A, Kumar AS, Goyal MK.
BMJ case reports. 2017 Dec;2017().
Gaucher's disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease's incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old man, born out of non-consanguineous union, presented with general
PMID 29237663

Contrast induced spinal myoclonus after percutaneous coronary intervention.

Abela L, Magri Gatt K, Farrugia J, Mallia M.
Journal of cardiology cases. 2017 Sep;16(3)97-100.
We present a case of a 77-year-old man diagnosed with contrast-induced spinal myoclonus following primary percutaneous coronary intervention. After being admitted with a diagnosis of anteroseptal myocardial infarction, he underwent primary percutaneous coronary intervention to the left anterior desc
PMID 30279807

Severe and extensive traumatic axonal injury following minor and indirect head trauma.

Jang SH, Lee HD.
Brain injury. 2017 ;31(3)416-419.
This study reports on a patient with mild traumatic brain injury (TBI) who showed severe and extensive traumatic axonal injury (TAI) of various neural tracts following minor and indirect head trauma, which was demonstrated by diffusion tensor tractography (DTT). A 26-year-old female patient suffered
PMID 28095027

Japanese Journal

Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the <i>NEU1</i> Gene

Sekijima Yoshiki,Nakamura Katsuya,Kishida Dai,Narita Aya,Adachi Kaori,Ohno Kosaku,Nanba Eiji,Ikeda Shu-ichi
Internal Medicine 52(1), 119-124, 2013
… On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ataxia, hyperreflexia and macular cherry-red spots were observed. …
NAID 130003365573

Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene

Sekijima Yoshiki,Nakamura Katsuya,Kishida Dai,Narita Aya,Adachi Kaori,Ohno Kosaku,Nanba Eiji,Ikeda Shu-ichi
INTERNAL MEDICINE 52(1), 119-124, 2013
… On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ataxia, hyperreflexia and macular cherry-red spots were observed. …
NAID 120005440146

進行性ミオクローヌスてんかんとその近縁疾患 : 病態と診断 : 遺伝子診断ならびに神経生理学的の最近の進歩を中心として

大沼悌一
てんかん研究 = Journal of the Japan Epilepsy Society 17(3), 153-172, 1999-10-01
… Lafora病、Neuronal Ceroid Lipofuscinosis (CLN) 、Sialidosis、Mitochondria病、Unverricht-Lundborg病 (UL病) および、特に日本に多いDRPLAとPME関連疾患であるBenign Adult Familial Myoclonus Epilepsy (BAFME) について特に分子遺伝学的、電気生理学的所見を中心に述べた。 …
NAID 10016100682