WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- relating to or associated with the cerebellum; "cerebellar artery"
PrepTutorEJDIC
- (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
UpToDate Contents
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English Journal
- Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.
- Abdel-Salam GMH, Mazen I, Eid M, Ewida N, Shaheen R, Alkuraya FS.
- American journal of medical genetics. Part A. 2019 Jun;179(6)1053-1057.
- We report two siblings with microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia, in whom whole exome sequencing revealed a novel homozygous missense (c.770T>C, p.[Leu257Pro]) variant in the hedgehog acyl-transferase gene (HHAT), encoding an enzyme required for the attachme
- PMID 30912300
- [Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families].
- Ormazábal M, Solari A, Espeche L, Castro T, Buzzalino N, .
- Archivos argentinos de pediatria. 2019 Jun;117(3)e257-e262.
- The fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the most common cause of inherited intellectual disability. Associated with autistic spectrum disorders in one third of the patients, it affects m
- PMID 31063313
- Disrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly.
- Enokizono M, Sato N, Ota M, Shigemoto Y, Morimoto E, Oba M, Sone D, Kimura Y, Sugai K, Sasaki M, Ikegaya N, Iwasaki M, Matsuda H.
- Brain & development. 2019 Jun;41(6)507-515.
- Cerebellar dysmaturation and injury is associated with a wide range of neuromotor, neurocognitive and behavioral disorders as well as with preterm birth. We used diffusion tensor MR imaging to investigate a disruption in structural cortico-ponto-cerebellar (CPC) connectivity in children with infanti
- PMID 30665821
Japanese Journal
- 症例報告 小脳性運動失調と顔面感覚障害を合併したwall-eyed bilateral internuclear ophthalmoplegia(WEBINO)症候群の85歳男性例
- 角谷 真人,尾上 祐行,角谷 彰子 [他]
- 臨床神経学 = Clinical neurology 54(4), 317-320, 2014-04
- NAID 40020055515
- Midbrain Infarction Causing Oculomotor Nerve Palsy and Ipsilateral Cerebellar Ataxia
- Tokunaga Makoto,Fukunaga Kimiko,Nakanishi Ryoji,Watanabe Susumu,Yamanaga Hiroaki
- Internal Medicine 53(18), 2143-2147, 2014
- … We herein report the case of an 81-year-old woman with midbrain infarction causing pupil-sparing oculomotor nerve palsy with ipsilateral cerebellar ataxia. … The lesion was located at the rostral end of the decussation of the superior cerebellar peduncle touching the dorsal side, further caudal and dorsal to causal lesions of Claude's syndrome, which presented as oculomotor palsy and contralateral cerebellar ataxia. …
- NAID 130004687637
Related Links
- occurs in cattle, pigs and dogs. Affected young are normal at birth but at an early age ataxia and signs of cerebellar dysfunction appear, often progressing to complete immobilization. Cerebral function is usually normal.
- Cerebellar syndrome symptoms, causes, diagnosis, and treatment information for Cerebellar syndrome (Marie type ataxia) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...
★リンクテーブル★
[★]
小脳機能不全
- 関
- cerebellar disease、cerebellar disorder、cerebellar syndrome
[★]
- 関
- cerebellar disorder、cerebellar dysfunction、cerebellar syndrome
[★]
- 関
- cerebellar disease、cerebellar dysfunction、cerebellar syndrome
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- 英
- cerebellar syndrome
- 関
- 小脳機能不全、小脳疾患
[★]
- 関
- cerebelli、cerebellum
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