Abstract：
:Three of 4 adult patients with Marinesco-Sjögren syndrome (MSS; 2 males and 2 females, aged 26-31 years) in 2 families became non-ambulant because of slowly progressive muscular weakness rather than cerebellar ataxia. Other clinical features in these 4 patients were typical for MSS: bilateral cataracts from infancy, mental retardation, severe cerebellar atrophy, multiple skeletal abnormalities and hypergonadotropic hypogonadism. EMG demonstrated a myopathic pattern and serum CK was mildly elevated. Muscle biopsies from these 3 patients showed myopathic changes including a marked variation in fiber size, an increased number of fibers with centralized nuclei, and scattered necrotic and regenerating fibers. Fiber type analysis with myosin ATPase staining showed type 1 fiber predominance, type 2B fiber deficiency and mild increase in type 2C fibers. Muscle biopsy changes and the clinical course indicate that our MSS patients suffered from a chronic dystrophic process similar to that in congenital muscular dystrophy.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Komiyama A,Nonaka I,Hirayama Kdoi
10.1016/0022-510x(89)90010-5subject
Has Abstractpub_date
1989-01-01 00:00:00pages
103-13issue
1eissn
0022-510Xissn
1878-5883pii
0022-510X(89)90010-5journal_volume
89pub_type
杂志文章abstract：:In addition to the G2019S mutation in the leucine-rich repeat kinase 2 gene (LRRK2), which is particularly frequent in patients of Ashkenazi Jewish and Northern African origin, three amino acid substitutions (R1441C, R1441G, and R1441H), all at the same residue (R1441), have been identified as important genetic causes...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.09.017
更新日期：2006-12-21 00:00:00
abstract：:In this study, we investigated the dose-effect relationship and safety of tissue plasminogen activator (tPA) for the treatment of intraventricular hemorrhage/hematoma (IVH) in rats. Adult male Sprague-Dawley rats were injected with autologous blood into the left lateral ventricle to establish IVH. Two hours later, Rin...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00243-5
更新日期：2002-10-15 00:00:00
abstract：:A variety of neurological conditions and disease states are accompanied by pseudobulbar affect (PBA), an emotional disorder characterized by uncontrollable outbursts of laughing and crying. The causes of PBA are unclear but may involve lesions in neural circuits regulating the motor output of emotional expression. Sev...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2006.06.030
更新日期：2007-08-15 00:00:00
abstract：:Positron emission tomography studies on the regional cerebral glucose metabolism (rCMRglc) and 18F-fluorodopa (18F-Dopa) uptake were performed in 3 patients with Machado-Joseph disease (MJD), a dominantly inherited degenerative disease in the cerebellum, brainstem and basal ganglia. The rCMRglc in MJD was found to be ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)00242-0
更新日期：1997-01-01 00:00:00
abstract：BACKGROUND AND PURPOSE:Congestive heart failure is a risk factor for ischemic stroke. Brain natriuretic peptide (BNP) is used as a biological marker of heart failure. We hypothesized that heart failure was associated with the onset of ischemic stroke patients with atrial fibrillation (AF). METHODS:Between June 2006 an...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.02.374
更新日期：2009-06-15 00:00:00
abstract：:In previous work we demonstrated little effect of aging on the density and spatial pattern of epidermal innervation, however, this was restricted to two sites proximal and distal in the leg. To expand on these observations, we used punch skin biopsy in ten healthy controls to examine the variation in intra-epidermal n...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00063-5
更新日期：1999-04-01 00:00:00
abstract：:In this paper we review the findings of magnetic resonance imaging (MRI) in optic neuritis and visual dysfunction due to other optic neuropathies. With advances in MRI technology, it has become possible to visualise optic nerve pathology. STIR and RARE sequences, contrast-enhanced sequences, and phased array surface c...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/s0022-510x(99)00272-5
更新日期：2000-01-15 00:00:00
abstract：:Thromboxane-prostacyclin imbalance may be an important determinant of platelet-vessel wall interactions that are vital in circulatory homeostasis. In experimental spinal cord injury, the vascular damage contributes substantially to the process of progressive secondary injury culminating in post-traumatic myelopathy. I...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90019-6
更新日期：1988-01-01 00:00:00
abstract：:The distribution of histocompatibility antigens was studied in 44 patients with motor neurone disease (MND). An unusually high incidence of HLA antigens A2 and A28 was found, compared to a control population. ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(77)90236-2
更新日期：1977-06-01 00:00:00
abstract：:Although control of hypertension is established as an important factor in the primary and secondary prevention of stroke, management of blood pressure in the setting of acute ischemic stroke remains controversial. Given limited data, the general consensus is that there is no proven benefit to lowering blood pressure i...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.04.033
更新日期：2007-10-15 00:00:00
abstract：:Laryngeal stridor is recognized as a characteristic clinical manifestation in patients with multiple system atrophy (MSA). However, the pathogenic mechanisms underlying this symptom are controversial. Neurogenic atrophy of the posterior cricoarytenoid muscle has been identified in cases of MSA, suggesting that larynge...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2016.01.007
更新日期：2016-02-15 00:00:00
abstract：BACKGROUND:Global cerebral ischemia followed by reperfusion, leads to extensive neuronal damage, particularly the neurons in the hippocampal CA region. Recent studies have demonstrated that pharmacological agents, such as Nigella sativa L. (Ranunculaceae) that is an annual herbaceous flowering plant, given at the time ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.11.019
更新日期：2014-02-15 00:00:00
abstract：OBJECTIVES:Abnormal swallowing or dysphagia is a potentially fatal symptom in Parkinson's disease (PD) and is characterized by frequent silent aspiration, which is an unrecognized risk for aspiration pneumonia. While the effects of oral levodopa on swallowing functions remain controversial, several small-scale studies ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.07.003
更新日期：2019-09-15 00:00:00
abstract：:We describe the long-term clinical outcome of a patient with Leigh-like syndrome presenting as an early onset encephalopathy and peripheral neuropathy caused by the T8993G mutation in the mitochondrial DNA (mtDNA). Clinical follow-up for 20 years revealed a peculiar pattern of slow disease progression, characterized b...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.11.023
更新日期：2009-03-15 00:00:00
abstract：:Mucopolysaccharidosis (MPS) type I (alpha-iduronidase deficiency) is characterized by storage and massive urinary excretion of dermatan sulfate and heparan sulfate; it may be distinguished into three different subtypes based on age at onset and severity of the clinical symptoms. We report on progressive white matter i...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00014-x
更新日期：2002-03-30 00:00:00
abstract：:Primary progressive aphasia (PPA) is a group of disorders with progressive language impairment. Abnormal behaviour may develop in PPA as the disease evolves, but the clinical features and brain basis of behavioural change in PPA have not been fully defined. 33 PPA patients (9 semantic dementia, SD, 14 progressive nonf...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.03.012
更新日期：2010-06-15 00:00:00
abstract：:Transcranial direct current stimulation (tDCS) is a noninvasive technique to modulate the neural membrane potential. Its effects in the early stage of traumatic brain injury (TBI) have rarely been investigated. This study assessed the effects of anodal tDCS on behavioral and spatial memory in a rat model of traumatic ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.02.005
更新日期：2016-03-15 00:00:00
abstract：:The Trembler mouse suffers from a dominantly inherited hypertrophic neuropathy. Electron microscopy, including a quantitative analysis of myelination was performed on the nerves of Trembler mice from birth to senility and compared with the findings in control mice. Axons in adult Trembler nerves were thinly myelinated...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(76)90139-8
更新日期：1976-12-01 00:00:00
abstract：:Out of 66 patients who were diagnosed as suffering from polymyalgia rheumatica (PMR; n = 40), temporal arteritis (AT; n = 14) or both (n = 12) in a 6.5 year period (incidence 3.4/100,000 per year), 9 died and 49 were followed up for an average period of 28 months. Exacerbations of the illness (n = 24) and complication...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/0022-510x(92)90105-t
更新日期：1992-08-01 00:00:00
abstract：BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disorder caused by NOTCH3 mutations, usually localized to exons 3 and 4, and characterized by recurrent subcortical infarctions, dementia and leukoencephalopathy. So far, there has been only l...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.02.011
更新日期：2006-07-15 00:00:00
abstract：:The Clausen modification of the peripheral blood buffy coat leukocyte migration test was used to test patients with multiple sclerosis, normal subjects and patients with other neurologic diseases for cell-mediated immunity to commercial measles virus, purified nuclear core material from a human neurotropic strain of m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(76)90026-5
更新日期：1976-07-01 00:00:00
abstract：BACKGROUND:Fingolimod is approved by the U.S. Food and Drug Administration to reduce relapses and disability progression in relapsing forms of MS. Several screening studies and a first-dose observation (FDO) period are recommended due to adverse effects observed in clinical trials. OBJECTIVE:The objective of this stud...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2012.09.009
更新日期：2012-12-15 00:00:00
abstract：:The present single center, double-blind, delayed start study was conducted to examine possible symptomatic and disease-modifying effects of GM1 ganglioside in Parkinson's disease (PD). Seventy-seven subjects with PD were randomly assigned to receive GM1 for 120 weeks (early-start group) or placebo for 24 weeks followe...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.jns.2012.10.024
更新日期：2013-01-15 00:00:00
abstract：:Degeneration at the neuromuscular function following cutting the phrenic nerve at the 9th intercostal space differs in red, white and intermediate skeletal muscle fibers. The ultrastructure of the nerve terminal and the muscle fiber between 12 hours and 21 days following denervation suggests that lack of neurotrophic ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(79)90116-3
更新日期：1979-10-01 00:00:00
abstract：PURPOSE:This study aimed to develop a conceptual understanding of the specific characteristics of palliative care in neurology and the challenges of providing palliative care in the setting of neurological illness. METHOD:The study was conducted at London Health Sciences Centre in Canada using grounded theory methodol...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.12.008
更新日期：2018-02-15 00:00:00
abstract：OBJECTIVES:To address practical issues in measuring autoantibodies to neuronal cell-surface antigens (NSAs) in various autoimmune neurological disorders (ANDs). METHODS:We retrospectively reviewed the clinical information of 221 patients with clinically suspected ANDs who underwent antibody testing for NSAs between Ja...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.04.009
更新日期：2018-07-15 00:00:00
abstract：:We investigated superoxide dismutase (SOD) activity in human cerebrospinal fluid (CSF) as an index of the aging process in the central nervous system (CNS). The subjects were 61 individuals aged 21-77 years, comprising 24 men and 37 women without organic disorders of the nervous system. SOD activity in CSF was measure...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(96)00160-8
更新日期：1996-09-15 00:00:00
abstract：:Sirtuin 2 (SIRT2) is a strong protein deacetylase, which is highly expressed in central nervous system. Recently, an association between SIRT2 rs10410544 polymorphism and late-onset Alzheimer's disease (LOAD) was found in the APOEε4-negative Caucasian population. To investigate the potential association between the rs...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.10.001
更新日期：2014-01-15 00:00:00
abstract：:Relative contributions of two potential pathogenetic factors for cognitive impairments among patients with multi-infarct dementia (MID) are reported. Cognitive test scores were correlated with measures of cerebral hypoperfusion and loss of brain parenchyma. Local cerebral blood flow values were determined utilizing st...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90090-t
更新日期：1991-03-01 00:00:00
abstract：BACKGROUND:The evidence suggests that the origin of primary dystonia is at least partly associated with widespread dysfunction of the basal ganglia and cortico-striato-thalamo-cortical circuits. The aim of the study was to assess the sensorimotor activation pattern outside the circuits controlling the affected body par...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/j.jns.2011.03.040
更新日期：2011-07-15 00:00:00
