WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
the narrow central part of the cerebellum between the two hemispheres (同)vermis_cerebelli

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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1. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults
2. ネフロン癆の遺伝学および病因 genetics and pathogenesis of nephronophthisis
3. 小児および思春期における浮動性めまいの評価 evaluation of dizziness in children and adolescents
4. ネフロン癆の臨床症状、診断、および治療 clinical manifestations diagnosis and treatment of nephronophthisis
5. 後方循環系の脳血管症候群 posterior circulation cerebrovascular syndromes

English Journal

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Romaniello R1, Arrigoni F, Cavallini A, Tenderini E, Baschirotto C, Triulzi F, Bassi MT, Borgatti R.Author information 1Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.AbstractAIM: The aim of this study was to determine the frequency of mutations in tubulin genes (TUBB2B, TUBA1A, and TUBB3) in patients with malformations of cortical development (MCDs) of unknown origin.
Developmental medicine and child neurology.Dev Med Child Neurol.2014 Apr;56(4):354-60. doi: 10.1111/dmcn.12370. Epub 2014 Jan 7.
AIM: The aim of this study was to determine the frequency of mutations in tubulin genes (TUBB2B, TUBA1A, and TUBB3) in patients with malformations of cortical development (MCDs) of unknown origin.METHOD: In total, 79 out of 156 patients (41 males, 38 females; age range 8mo-55y (mean age 13y 3mo, SD
PMID 24392928

Gravity-dependent Nystagmus and Inner-Ear Dysfunction Suggest Anterior and Posterior Inferior Cerebellar Artery Infarct.

Shaikh AG1, Miller BR2, Sundararajan S2, Katirji B2.Author information 1Department of Neurology, Case Western Reserve University, Cleveland, Ohio. Electronic address: aasefshaikh@gmail.com.2Department of Neurology, Case Western Reserve University, Cleveland, Ohio.AbstractCerebellar lesions may present with gravity-dependent nystagmus, where the direction and velocity of the drifts change with alterations in head position. Two patients had acute onset of hearing loss, vertigo, oscillopsia, nausea, and vomiting. Examination revealed gravity-dependent nystagmus, unilateral hypoactive vestibulo-ocular reflex (VOR), and hearing loss ipsilateral to the VOR hypofunction. Traditionally, the hypoactive VOR and hearing loss suggest inner-ear dysfunction. Vertigo, nausea, vomiting, and nystagmus may suggest peripheral or central vestibulopathy. The gravity-dependent modulation of nystagmus, however, localizes to the posterior cerebellar vermis. Magnetic resonance imaging in our patients revealed acute cerebellar infarct affecting posterior cerebellar vermis, in the vascular distribution of the posterior inferior cerebellar artery (PICA). This lesion explains the gravity-dependent nystagmus, nausea, and vomiting. Acute onset of unilateral hearing loss and VOR hypofunction could be the manifestation of inner-ear ischemic injury secondary to the anterior inferior cerebellar artery (AICA) compromise. In cases of combined AICA and PICA infarction, the symptoms of peripheral vestibulopathy might masquerade the central vestibular syndrome and harbor a cerebellar stroke. However, the gravity-dependent nystagmus allows prompt identification of acute cerebellar infarct.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.J Stroke Cerebrovasc Dis.2014 Apr;23(4):788-90. doi: 10.1016/j.jstrokecerebrovasdis.2013.05.020. Epub 2013 Jun 22.
Cerebellar lesions may present with gravity-dependent nystagmus, where the direction and velocity of the drifts change with alterations in head position. Two patients had acute onset of hearing loss, vertigo, oscillopsia, nausea, and vomiting. Examination revealed gravity-dependent nystagmus, unilat
PMID 23800506

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS.

Szmulewicz DJ1, McLean CA, Rodriguez ML, Chancellor AM, Mossman S, Lamont D, Roberts L, Storey E, Halmagyi GM.Author information 1From the University of Melbourne (D.J.S.), Royal Victorian Eye & Ear Hospital, Melbourne, Australia; Department of Anatomical Pathology (C.A.M.), Alfred Hospital, Melbourne, Australia; Department of Forensic Medicine (M.L.R.), New South Wales Pathology, New South Wales, Australia; Department of Medicine (A.M.C.), Tauranga Hospital, Wellington, New Zealand; Department of Neurology (S.M.), Capital Coast Health, Wellington, New Zealand; Pathology (D.L.), Waikato Hospital, Hamilton, Waikato, New Zealand; Department of Neuroscience (L.R.), St Vincent's Hospital, Melbourne, Australia; Department of Neuroscience (E.S.), Monash University, Melbourne, Australia; and Department of Neurology (G.M.H.), Royal Prince Alfred Hospital, Sydney, Australia.AbstractOBJECTIVE: To elucidate the neuropathology in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS), a novel cerebellar ataxia comprised of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a peripheral sensory deficit.
Neurology.Neurology.2014 Mar 28. [Epub ahead of print]
OBJECTIVE: To elucidate the neuropathology in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS), a novel cerebellar ataxia comprised of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a peripheral sensory deficit.METHOD: Brain and spina
PMID 24682971

Japanese Journal

Magnetic Resonance Imaging Diagnosis of Dandy-Walker-Like Syndrome in a Wire-Haired Miniature Dachshund

KOBATAKE Yui,MIYABAYASHI Takayoshi,YADA Naoko [他],KACHI Shingo,OHTA George,SAKAI Hiroki,MAEDA Sadatoshi,KAMISHINA Hiroaki
Journal of Veterinary Medical Science 75(10), 1379-1381, 2013
… Computed tomography (CT) and magnetic resonance imaging (MRI) detected bilateral ventriculomegaly, dorsal displacement of the cerebellar tentorium, a defect in the cerebellar tentorium and a large fluid-filled cystic structure that occupied the regions where the cerebellar vermis and occipital lobes are normally located. … The abovementioned cystic structure and the defect in the cerebellar tentorium were comparable to those seen in humans with Dandy-Walker syndrome. …
NAID 130003362216

Clinically Mild form of Joubert Syndrome-related Disorder in a 7-year-old Female:A case report

Imataka George,Watabe Yoshiyuki,Arisaka Osamu
Dokkyo journal of medical sciences 39(2), 119-122, 2012-07-25
… Joubert syndrome-related disorders (JSRD) is a very rare syndrome observed with agenesis of the vermis,episodic hyperpnea, abnormal eye movements, and cerebellar ataxia and mental retardation. … A brain MRI was conducted to assess symptoms of abnormal eye movements and body trunk cerebella rataxia, and she was diagnosed with JSRD based on the observation of agenesis of the vermis and characteristic molar tooth signs. …
NAID 110009443674

成人後に診断され, 複数回の肝生検にて肝線維症の進展を経時的に観察し得たCOACH症候群の1例

牧野祐紀,井倉技,今井康陽,福田和人,澤井良之,小来田幸世,上ノ山直人,土井喜宣,木曽真一,平松直樹,田村信司,林紀夫,竹原徹郎
日本消化器病學會雜誌 = The Japanese journal of gastro-enterology 109(7), 1223-1229, 2012-07-05
30歳男性．13歳時に先天性肝線維症と診断され経過観察中，胃静脈瘤加療および脳死肝移植適応評価目的にて入院した．入院後の肝生検にて13歳時に比べさらに肝線維症の進行を認めた．また精神遅滞，小脳失調，小脳虫部低形成，脈絡膜欠損を認めCOACH症候群と診断した．COACH症候群は過去数十例の報告しかない極めてまれな疾患で，成人後に診断され肝線維症の進行を組織学的に追跡し得た点でも貴重な症例である．
NAID 10030803131