Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study [PDF]
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in
BANFI S+15 more
core
目的 分析血管病相关性眼肌麻痹的病因、临床特点与预后。 方法 回顾性系列病例研究。收集2012年12月-2016年7月在首都医科大学附属北京同仁医院神经内 科就诊的血管病相关性眼肌麻痹住院患者的临床资料,包括临床表现、体格检查、既往史、实验室 和影像学检查结果,随访并记录其眼肌麻痹的缓解时间,对眼肌麻痹患者的病因、临床特点与预后 进行分析。 结果 研究共入组126例患者,结果显示:①微血管缺血性(microvascular ischemic,MVI)病变为血管病 相关性眼肌麻痹最常见的病因(81.7%),
李然,李文文,胡晓明,王佳伟,景筠
doaj +1 more source
Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado–Joseph Disease
Objective An abundance of select transcripts and proteins has been found to be dysregulated in blood samples of Machado–Joseph disease (MJD) carriers. Here, we aimed to: (1) identify blood transcriptional changes as potential biomarkers of MJD; (2) correlate levels of differentially expressed blood transcripts with MJD carriers features; and (3 ...
Ana F. Ferreira+10 more
wiley +1 more source
Oculomotor Nerve Palsy following Cardiac Tamponade with Churg-Strauss Syndrome: A Case Report [PDF]
A 57-year-old man with a history of more than 10 years of bronchial asthma and chronic sinusitis complained of double vision which developed 18 days after cardiac tamponade with eosinophil-rich fluid (eosinophils 30%).
Hashimoto, Takao+4 more
core +3 more sources
Spatiotemporal distribution of neural crest cells in the common wall lizard Podarcis muralis
Abstract Background Neural crest cells (NCCs) are migratory embryonic stem cells that give rise to a diverse set of cell types. Here we describe the dynamic distribution of NCCs in developing embryos of the common wall lizard Podarcis muralis inferred from 10 markers.
Robin Pranter, Nathalie Feiner
wiley +1 more source
Clinical characteristics and etiological analysis of the peripheral third nerve palsy
Objective To summarize and analyze the etiology and clinical features of the third nervepalsy(TNP). Methods and Results The clinical data of patients with TNP diagnosed from January to October 2019 were retrospectively analyzed.
Li⁃ping ZHU, Jia⁃wei WANG
doaj
Clinical features of visual disturbances secondary to isolated sphenoid sinus inflammatory diseases
Background Visual disturbances associated with isolated sphenoid sinus inflammatory diseases (ISSIDs) are easily misdiagnosed due to the nonspecific symptoms and undetectable anatomical location. The main objective of this retrospective case series is to
Lanlan Chen+3 more
doaj +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang+3 more
wiley +1 more source
Vagus nerve manipulation and microglial plasticity in the prenatal brain [PDF]
The efferent and afferent effects of the vagus nerve on the developing brain have remained enigmatic. Here we review the evidence of such effects on microglial plasticity in the sheep model of human fetal development, one of the most recognized and deployed models of human fetal physiology.
arxiv
Distribution of choline acetyltransferase (ChAT) immunoreactivity in the CNS of the common carp cyprinus carpio [PDF]
Cholinergic systems play a role in basic cerebral functions and a number of human neurodegenerative disorders. Mechanisms involved in human brain diseases, including Parkinson's disease (1), are often approached by using fish models, especially cyprinids,
Casini, Arianna+3 more
core +2 more sources