Abstract:
INTRODUCTION:To evaluate the non-ataxic clinical manifestations in genetically proven Spinocerebellar ataxia 2 (SCA2) and identify their determinants and predictors. METHODS:Seventy-three subjects with genetically proven SCA2 were evaluated clinically for the common non-ataxic manifestations. Based on the presence or absence of non-ataxic manifestations, patients were classified into groups and then compared for significant differences in the CAG repeat length, age at onset (AAO), duration of disease, and ataxia rating score. Predictors of non-ataxic symptoms were identified using multivariable binary logistic regression. RESULTS:The most common non-ataxic clinical manifestations were peripheral neuropathy, extrapyramidal features, pyramidal signs, cognitive impairment and lower motor neuron signs. The CAG repeat length was inversely related to the AAO of symptoms (r = -0.46, p < .001). Patients with peripheral neuropathy and psychiatric symptoms had earlier AAO. Patients with cognitive impairment and extrapyramidal symptoms had higher CAG repeat length whereas presence of lower motor neuron signs was more common in patients with lower CAG repeat length. CONCLUSION:The lower strength of association between CAG repeat length and AAO in our cohort suggests the presence of additional factors underlying the variability in AAO. Both CAG repeat length and AAO were identified as significant determinants and predictors of non-ataxic symptoms.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Stezin A,Venkatesh SD,Thennarasu K,Purushottam M,Jain S,Yadav R,Pal PKdoi
10.1016/j.jns.2018.08.024subject
Has Abstractpub_date
2018-11-15 00:00:00pages
14-18eissn
0022-510Xissn
1878-5883pii
S0022-510X(18)30345-9journal_volume
394pub_type
杂志文章abstract::McLeod syndrome is a rare X-linked disorder involving neurological defects and acanthocytosis. We examined the XK gene in three patients with neuroacanthocytosis, one of whom had cardiomyopathy, and his symptoms were very similar to those of McLeod syndrome. We found two new transversions (C to G at codon 204 and G to...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(97)00067-1
更新日期:1997-09-10 00:00:00
abstract::To systematically elucidate the gene expression of inflammatory and immune modulators following middle cerebral artery occlusion (MCAO) in the rat, we studied interleukin-10 (IL-10) along with tumor necrosis factor alpha (TNF-alpha), interleukin-1 beta (IL-1beta) and interleukin-2 (IL-2). Gene expression of these cyto...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(97)00154-8
更新日期:1997-11-25 00:00:00
abstract::A broad spectrum of immunologic parameters was investigated in 13 cases of myotonic muscular dystrophy (MyD), including those for cellular immunity which has attracted little attention in the past. One was a 46-year-old woman having both MyD and a thymoma. This association between MyD and thymoma is probably coinciden...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90007-6
更新日期:1980-08-01 00:00:00
abstract::The primary objective of this study was to attempt to induce excessive intraglial acidosis during ischemia by subjecting rats to an initial insult which leads to post insult accumulation of glycogen, presumed to accumulate primarily in astrocytes. The initial insults were 15 min of transient forebrain ischemia, 30 min...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(96)82226-x
更新日期:1996-04-01 00:00:00
abstract:OBJECTIVE:We carried out a meta-analysis focusing on the relationships between rs1137070 C>T and rs1799836 A>G polymorphisms in the MAO gene as a modifier of Parkinson disease (PD) susceptibility. METHOD:A literature search of the Cochrane Library Database, Web of Science, PubMed, CINAHL, EMBASE, and the Chinese Biome...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析
doi:10.1016/j.jns.2014.07.016
更新日期:2014-10-15 00:00:00
abstract:BACKGROUND:There has been increased interest in objectively quantifying time spent in moderate-to-vigorous physical activity (MVPA) using accelerometry as an outcome among persons with multiple sclerosis (MS). This requires development of a cut-point for interpreting the rate of accelerometer output based on its associ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.02.024
更新日期:2014-05-15 00:00:00
abstract::The study's objectives were to assess the predictive significance of different sets of demographic, clinical and extraclinical variables in identifying multiple sclerosis patients with various risk levels of worsening during the follow-up, in order to provide clues to inclusion criteria and selection of primary clinic...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(99)00143-4
更新日期:1999-10-15 00:00:00
abstract::We show here that the major glycolipid in myelin, galactocerebroside, is not only a useful marker for isolated bovine oligodendrocytes but that its quantitation can serve as a probe for cell differentiation. We have produced in the rabbit antisera to bovine oligodendroglia, bovine myelin and galactocerebroside. The bi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90032-5
更新日期:1980-07-01 00:00:00
abstract::There is significant evidence that the pathogenesis of several neurodegenerative diseases, including Parkinson's disease, Alzheimer's disease, Friedreich's ataxia (FRDA), multiple sclerosis and amyotrophic lateral sclerosis, may involve the generation of reactive oxygen species (ROS) and/or reactive nitrogen species (...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2005.03.012
更新日期:2005-06-15 00:00:00
abstract::Brainstem gliomas constitute 10% of brain tumors in children and less than 2% in adults. Since therapeutic options are limited and brainstem gliomas are associated with a high morbidity and mortality, we sought to analyze the prognostic factors associated with a better outcome. We reviewed the records of 86 patients w...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.03.009
更新日期:2009-06-15 00:00:00
abstract::Perampanel (PER) is a selective non-competitive α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor antagonist, licensed as adjunctive therapy in focal epilepsy and primary generalized tonic-clonic seizures (pGTCSs). We performed a retrospective study on highly refractory adult patients taking PER, w...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2018.04.017
更新日期:2018-07-15 00:00:00
abstract::Post-streptococcal neuropsychiatric disorders encompass a broad spectrum of movement disorders, including tics, stereotypies, dystonia and tremor. We report the case of a 15-year-old boy who presented with a relapsing-remitting combination of psychogenic and organic movement disorders. Both relapses occurred after an ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.10.004
更新日期:2010-01-15 00:00:00
abstract:BACKGROUND:Contactin-associated protein 2 (Caspr2) antibody is a neuronal surface antibody (NSAb) capable of causing disorders involving central and peripheral nervous systems (PNS). Thymoma can be found in patients with Caspr2 antibodies and is most frequently associated with PNS symptoms. Myasthenia gravis can be fou...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.03.043
更新日期:2014-06-15 00:00:00
abstract:BACKGROUND:Although most patients with Parkinson's disease (PD) show decreased cardiac (123)I-metaiodobenzylguanidine (MIBG) uptake, some exhibit normal uptake. We evaluated the clinical characteristics of such patients. METHODS:We enrolled 154 non-demented patients showing parkinsonism with normal cardiac MIBG uptake...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.10.059
更新日期:2015-12-15 00:00:00
abstract:BACKGROUND:Clinical disagreement over antiplatelet (AP) resumption in patients with primary intracranial hemorrhage (ICH) has long existed. This meta-analysis aimed to evaluate the benefits of AP resumption on preventing ischemic or thromboembolic events against its risks of promoting ICH recurrence or hematoma expansi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.jns.2017.11.009
更新日期:2018-01-15 00:00:00
abstract::Acute cortical lesions rarely cause vertigo. We report a 51-year-old patient presenting with an acute vestibular syndrome including spontaneous vertigo and nystagmus, lateropulsion and nausea due to middle cerebral artery infarction. The central origin of the acute vestibular syndrome was revealed by a normal head imp...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2014.02.005
更新日期:2014-04-15 00:00:00
abstract::We tested the hypothesis that mild and severe ischemic cell damage are reflected in neurological and functional recovery after stroke. Rats were subjected to either 30 min or 120 min of middle cerebral artery occlusion or sham operation. Neurological and functional tests including, gross neurological score, and rotaro...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(00)00268-9
更新日期:2000-03-15 00:00:00
abstract::Focal spinal cord blood flow was measured in the left dorsal column during left sciatic nerve stimulation, and compared to blood flow in the same area during sciatic nerve inactivity. Blood flow was found to be significantly increased during stimulation. It is suggested that this increased blood flow is a reflection o...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(78)90148-x
更新日期:1978-10-01 00:00:00
abstract:BACKGROUND:MS and psoriasis are both autoimmune diseases putatively mediated mainly by T cells. OBJECTIVE:We conducted a case control study to investigate whether patients with MS have a high rate of comorbid psoriasis. METHODS:The cohort consisted of 214 consecutive MS patients and a control group of 192 consecutive...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.01.003
更新日期:2014-03-15 00:00:00
abstract::Sympathetic skin response (SSR) is a simple, reproducible test of function of a polysynaptic reflex having diverse afferents, a common efferent pathway through the spinal cord, pre and post-ganglionic sympathetic fibers and with sweat glands as effectors. The reflex is co-ordinated in the posterior hypothalamus or upp...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/0022-510x(94)00265-p
更新日期:1995-04-01 00:00:00
abstract::Menkes' disease is an inherited disturbance of copper metabolism. Addition of copper to the medium of cultured fibroblasts and lymphoblasts from patients with Menkes' disease results in an increased induction of metallothionein. We investigated the metallothionein induction in response to copper and zinc in muscle cel...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(90)90012-c
更新日期:1990-12-01 00:00:00
abstract::Centronuclear myopathy, like myotonic dystrophy, is characterized by muscle wasting and type 1 fiber atrophy. To determine whether this disorder might include a derangement in carbohydrate metabolism similar to that in myotonic dystrophy, 3 comparably wasted patients with centronuclear myopathy, myotonic dystrophy, an...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(78)90127-2
更新日期:1978-12-01 00:00:00
abstract::The diagnosis of epilepsy in the elderly can be difficult. We sought to determine whether video-EEG monitoring (VEEG) is useful in the diagnosis and management of elderly patients with epilepsy. We reviewed the medical records of 20 consecutive patients, over 60 years of age, selected from a total of 1423 patients ref...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(96)00092-5
更新日期:1996-10-01 00:00:00
abstract:OBJECTIVES:To compare the clinical course and muscle biopsy features of polymyositis with mitochondrial pathology (PM-Mito) to inclusion body myositis (IBM) and steroid-responsive inflammatory myopathies (polymyositis). METHODS:We compared clinical, laboratory and myopathologic features in a retrospective study of pat...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2008.11.010
更新日期:2009-03-15 00:00:00
abstract::The volume of the lumbar sac measured in 4 subjects was found to be 15.5 ml. Exactly 15 ml of lumbar cerebrospinal fluid (L-CSF) was permitted to flow freely out during a lumbar puncture in 20 neurological patients and small samples of the L-CSF were collected in the beginning (sample 1), at the middle (sample 2), and...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90103-4
更新日期:1977-03-01 00:00:00
abstract::Neuropathological evidence of demyelination was found in the brain and sciatic nerve of diabetic patients at autopsy. The activity of acid proteinase was somewhat increased in the white matter but decreased in the gray matter of diabetic patients. No increase was observed in the activity of neutral proteinase in diabe...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90191-5
更新日期:1977-08-01 00:00:00
abstract::Low 25-hydroxy vitamin D (25-[OH]-D) serum concentrations have been associated with higher disease activity in multiple sclerosis (MS) patients. In a large cross-sectional study we assessed the vitamin D status in MS patients in relation to seasonality and relapse rate. 415 MS-patients (355 relapsing-remitting MS and ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.01.059
更新日期:2017-04-15 00:00:00
abstract::Clinical awakening can be seen just before or after seizure onsets. In this study we determined the time between onset of seizures and awakening in patients with frontal lobe epilepsy (FLE) and temporal lobe epilepsy (TLE). Sixty-eight patients who underwent video-EEG monitoring with simultaneous PSG were retrospectiv...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.12.009
更新日期:2012-04-15 00:00:00
abstract:BACKGROUND:The novel coronavirus disease 19 (COVID-19) causes multi-system disease including possibly heightened stroke risk. Data from high-income countries (HIC) suggest disruptions to care delivery with reduced stroke admissions and administration of acute stroke reperfusion therapies. We are unaware of any publishe...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.117044
更新日期:2020-09-15 00:00:00
abstract::Transient global amnesia is a well-described clinical syndrome; however, the pathophysiology is perplexing. Structural imaging indicates that punctuate hippocampal lesions are the representative pathophysiology, although functional neuroimaging studies have reported that the various regions comprising the episodic mem...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.05.035
更新日期:2016-09-15 00:00:00