Abstract:
:Calcium/calmodulin-dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and synapses. Insertional mutations or targeted disruption of the CASK gene in mice results in neonatal lethality, indicating an important role for CASK in development. Recently, several reports have also indicated that mutations in the human CASK gene result in X-linked malformations of the brain and mental retardation. At the molecular level, many studies indicate that CASK is critical for synapse formation at both presynaptic and postsynaptic junctions, and in the regulation of gene expression. The known molecular functions of CASK explain, at least partially, mental retardation and brain developmental defects in patients. In this review, recent findings about CASK are summarized and discussed.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Hsueh YPdoi
10.1002/ana.21755subject
Has Abstractpub_date
2009-10-01 00:00:00pages
438-43issue
4eissn
0364-5134issn
1531-8249journal_volume
66pub_type
杂志文章,评审abstract::We studied local cerebral blood flow, as measured by autoradiography with digital image processing and by tissue morphology, in six rats 4 hours after occlusion of the proximal middle cerebral artery. A consistent, three-dimensional pattern of graded reductions in local cerebral blood flow involved the affected hemisp...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150608
更新日期:1984-06-01 00:00:00
abstract::In view of the favorable claims of Cook and others, an open trial of chronic dorsal column stimulation was undertaken in 9 patients who had moderately advanced multiple sclerosis (MS) but were still ambulatory. No objective improvement was noted by either author during the postoperative observation period of 6 to 37 m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410060115
更新日期:1979-07-01 00:00:00
abstract::Freezing of gait (FOG) is a common and debilitating, but largely mysterious, symptom of Parkinson disease. In this review, we will discuss the cerebral substrate of FOG focusing on brain physiology and animal models. Walking is a combination of automatic movement processes, afferent information processing, and intenti...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.24778
更新日期:2016-11-01 00:00:00
abstract::We examined binding to excitatory amino acid and inhibitory amino acid receptors in frozen hippocampal sections prepared from surgical specimens resected from 8 individuals with medically refractory temporal lobe epilepsy. The excitatory receptors studied included N-methyl-D-aspartate (NMDA), strychnine-insensitive gl...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410290513
更新日期:1991-05-01 00:00:00
abstract::In aphasia due to stroke, language-related activity shifts not only to undamaged cortex within the dominant hemisphere but also toward right-sided areas homotopical to the left-sided lesion. We examined whether a rightward shift takes place in primary progressive aphasia (PPA). Nineteen PPA patients participated, 19 h...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.20588
更新日期:2005-09-01 00:00:00
abstract::This report describes, for what may be only the second time, a ruptured miliary aneurysm within a cerebral hemorrhage. The report is unique in that the aneurysm has arisen at the site of a dissection within the wall of an arteriole at a site of fibrinoid necrosis. The case not only is a unique illustration of this pat...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10664
更新日期:2003-09-01 00:00:00
abstract::A comprehensive analysis of cerebral hemodynamics and metabolism was carried out in 14 patients with pseudotumor cerebri. Tracer techniques were employed to measure cerebral blood flow (CBF) and vascular reactivity to acute changes in arterial carbon dioxide tension and blood pressure, cerebral blood volume (CBV), and...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410040203
更新日期:1978-08-01 00:00:00
abstract::The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of s...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160109
更新日期:1984-07-01 00:00:00
abstract:OBJECTIVE:In multiple sclerosis (MS), cerebral gray matter (GM) atrophy correlates more strongly than white matter (WM) atrophy with disability. The corresponding relationships in the spinal cord (SC) are unknown due to technical limitations in assessing SC GM atrophy. Using phase-sensitive inversion recovery (PSIR) ma...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24241
更新日期:2014-10-01 00:00:00
abstract:OBJECTIVE:Loss of function mutations in PINK1 typically lead to early onset Parkinson disease (PD). Zebrafish (Danio rerio) are emerging as a powerful new vertebrate model to study neurodegenerative diseases. We used a pink1 mutant (pink(-/-) ) zebrafish line with a premature stop mutation (Y431*) in the PINK1 kinase d...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23999
更新日期:2013-12-01 00:00:00
abstract::Knowledge about the balance between heritable and nonheritable risk in multiple sclerosis (MS) is based on twin studies in high-prevalence areas. In a study that avoided ascertainment limitations and directly compared continental Italy (medium-prevalence) and Sardinia (high-prevalence), we ascertained 216 pairs from 3...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20683
更新日期:2006-01-01 00:00:00
abstract::Infection by the human immunodeficiency virus type 1 (HIV-1) often results in neurological dysfunction including HIV dementia (HIVD). Alterations in cytokine and redox balance are thought to play important roles in the pathogenesis of HIVD, but the specific mechanisms underlying neuronal dysfunction and death are unkn...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10828
更新日期:2004-02-01 00:00:00
abstract::We recorded horizontal smooth-pursuit responses to sinusoidal and step-ramp stimuli in 7 patients with unilateral frontal lobe lesions. Five patients had directional smooth-pursuit deficits, all with impairment toward the side of cerebral damage. Ipsidirectional pursuit defects involved pursuit maintenance to sinusoid...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410370406
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:A study was undertaken to examine the association between overall cardiovascular health as recently defined by the American Heart Association in young adulthood to middle age and cognitive function in midlife. Overall ideal cardiovascular health incorporates 7 metrics, including the avoidance of overweight or...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.23836
更新日期:2013-02-01 00:00:00
abstract:OBJECTIVE:Huntington's disease (HD) is a monogenic, fully penetrant neurodegenerative disorder, providing an ideal model for understanding brain changes occurring in the years prior to disease onset. Diffusion tensor imaging (DTI) studies show widespread white matter disorganization in the early premanifest stages (pre...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.25309
更新日期:2018-10-01 00:00:00
abstract::Nine patients who had suffered strokes were examined between 10 and 34 days after onset using positron emission tomography. DMO labeled with carbon 11 was used to evaluate brain acid-base balance, and the oxygen-15 inhalation technique was used to measure regional cerebral blood flow, the oxygen extraction fraction, a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140405
更新日期:1983-10-01 00:00:00
abstract:OBJECTIVE:We examined the association of nutrient intake with microstructural white matter integrity, and the role of white matter integrity in the association between nutrient consumption and cognition. METHODS:This cross-sectional analysis included 239 elderly (age ≥ 65 years) participants of a multiethnic cohort. W...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24674
更新日期:2016-06-01 00:00:00
abstract::Advances in neuroimaging techniques, particularly high-resolution magnetic resonance imaging (MRI), have proved invaluable in identifying structural brain lesions in patients with epilepsy. The assumption that such focal lesions invariably predict the site of seizure origin may not be correct, however. We report a ser...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199904)45:4<461::aid-ana7>3.0.co
更新日期:1999-04-01 00:00:00
abstract::Progressive multifocal leukoencephalopathy is the most common clinical presentation of JC virus (JCV)-associated central nervous system (CNS) disease and has emerged as a major safety concern in multiple sclerosis patients treated with the monoclonal antibody natalizumab. Here we report clinical, radiological, and his...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23973
更新日期:2013-10-01 00:00:00
abstract::A modified technique of isoelectric focusing on thin-layer polyacrylamide gel followed by immunofixation with monospecific antisera was used to identify individual cerebrospinal fluid (CSF) and serum proteins and to define the oligoclonal reaction observed in multiple sclerosis (MS). "Normal" IgG gave about 20 to 30 b...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410080304
更新日期:1980-09-01 00:00:00
abstract::Serological evidence of either acute cytomegalovirus (CMV) or Epstein-Barr virus (EBV) infection was sought in a large series of patients with Guillain-Barré syndrome (GBS) and control subjects. Using an indirect immunofluorescent technique, IgM antibody directed against CMV was found in the serum of 33 of 220 GBS pat...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090709
更新日期:1981-01-01 00:00:00
abstract::The prevalence of migraine is much greater in female than male individuals. Cortical spreading depression (CSD) is thought to be a fundamental mechanism of migraine, and CSD in rodents is used as a model for migraine. We used optical intrinsic signal imaging and electrophysiological techniques to investigate CSD in C5...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21138
更新日期:2007-06-01 00:00:00
abstract:OBJECTIVE:To identify novel autoantibodies for neuropathic pain (NeP). METHODS:We screened autoantibodies that selectively bind to mouse unmyelinated C-fiber type dorsal root ganglion (DRG) neurons using tissue-based indirect immunofluorescence assays (IFA) with sera from 110 NeP patients with various inflammatory and...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25279
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encoding CRIK (citron rho-interacting kinase)-a component of the c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25044
更新日期:2017-10-01 00:00:00
abstract:OBJECTIVE:A number of hypotheses have been put forward as to why humans respond to fever by seizing. The current leading hypotheses are that respiratory alkalosis produces an as yet unidentified change in neural excitability or that inflammatory mediators potentiate excitatory synaptic transmission. However, it is well...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21712
更新日期:2009-08-01 00:00:00
abstract::This study assessed whether or not levodopa induces dyskinesias in normal (ie, unlesioned) squirrel monkeys. All six animals treated twice daily with levodopa (15 mg/kg with carbidopa by oral gavage) for two weeks developed choreoathetoid dyskinesias, whereas none of the vehicle-treated animals displayed any abnormal ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1099
更新日期:2001-08-01 00:00:00
abstract::We present the clinicopathological features of two siblings from a consanguineous marriage who presented with respiratory hypoventilation and died 10 days and 4 years later, respectively. This disorder showed extensive tau neuropathology, and both had a novel homozygous S352L tau gene mutation. This is the first descr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10747
更新日期:2003-11-01 00:00:00
abstract::Epilepsy is a disease of recurrent seizures that can develop after a wide range of brain insults. Although surgical resection of focal regions of seizure onset can result in clinical improvement, the molecular mechanisms that produce and maintain focal hyperexcitability are not understood. Here, we demonstrate a regio...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20633
更新日期:2005-11-01 00:00:00
abstract::A dinucleotide repeat polymorphism in a tau intron was identified and used in a case-control study to analyze the genetic association of tau with several neurodegenerative diseases with tau pathology. Subjects with the homozygous tau AO alleles were excessively represented in the progressive supranuclear palsy (PSP) g...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410410222
更新日期:1997-02-01 00:00:00
abstract::Central motor conduction times for the adductor pollicis muscle, the twitch force of that muscle to scalp magnetic motor cortex stimulation, and the maximum force of phasic voluntary contraction of the same muscle were measured in 15 patients with multiple sclerosis. Two tests of manual dexterity of the same hand also...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410290104
更新日期:1991-01-01 00:00:00