Abstract：
:Mitochondrial DNA (mtDNA) abnormalities with primary pathogenic significance for optic nerve atrophy have been detected in inflammatory demyelinating conditions indistinguishable from multiple sclerosis (MS). However, the degree of involvement of mtDNA alterations in the pathogenesis of MS is not clear. To further clarify this question, we sequenced the entire mtDNA in three MS patients. A number of nucleotide alterations were defined relative to the standard mtDNA sequence in each patient. After excluding the silent mutations and common polymorphisms, eight unusual mtDNA variants within the ribosomal (r) RNA, transfer (t) RNA or protein encoding regions were identified and characterized. Two mutations remained as putative MS related alterations after screening a population of 49 patients and 63 controls for the presence of these mutations. An A to G transition at nucleotide (nt) 13966 causing a threonine to phenylalanine exchange in a non-conserved region of the ND-5 was detected in two independent MS patients and in none of the sixty-three controls or in any of the large control population in the literature. The second mutation of interest at 14798 is a T to C transition changing a phenylalanine to leucine in a relatively conserved domain of the cytochrome b. Although it is a known polymorphism, a tendency for prominent optic nerve involvement was observed among patients carrying this mutation. As we have performed the first complete mtDNA sequence analysis on MS patients, we conclude that MS may occur without mtDNA abnormalities of primary pathogenic significance. However, contribution of the mtDNA to genetic susceptibility or phenotypic presentation of MS is possible in certain subgroups of patients, and merits further investigation.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Kalman B,Lublin FD,Alder Hdoi
10.1016/0022-510x(96)00112-8subject
Has Abstractpub_date
1996-09-01 00:00:00pages
75-84issue
1-2eissn
0022-510Xissn
1878-5883pii
0022-510X(96)00112-8journal_volume
140pub_type
杂志文章abstract：:MS is a disease that patients can suffer from over several decades. The effects of ageing are therefore likely to have a bearing on the natural history of the disease and the manner in which it is treated. In this review we consider how age affects remyelination, a spontaneously occurring regenerative process that fol...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2008.04.027
更新日期：2008-11-15 00:00:00
abstract：:Plasma levels of testosterone, luteinizing hormone (LH) and follicle-stimulating hormone (FSH) after 3 or 6 days of administration of the synthetic androgenic hormone fluoxymesterone (10 mg/day) were measured in 26 patients with X-linked recessive bulbospinal neuronopathy (X-BSNP) and 22 age-matched male controls. The...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90347-6
更新日期：1994-02-01 00:00:00
abstract：INTRODUCTION:TCS is a well-established technique for diagnosis of Parkinson's disease (PD). Volumetric 3D-TCS is a promising complementary approach for objective acquisition and analysis, in particular for less experienced sonographers. This study provides baselines for Parkinson detection (sensitivity and specificity)...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.12.001
更新日期：2019-02-15 00:00:00
abstract：:A 52-year-old Caucasian male with typical features of myotonic dystrophy (MD) developed a lung abscess and was found to have a mild atypical cyclic neutropenia. Granulocyte function testing revealed a defect in phagocytosis, bactericidal activity and chemotaxis. The defects were less severe at the nadir of the granulo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90057-2
更新日期：1986-03-01 00:00:00
abstract：BACKGROUND AND OBJECTIVE:Multiple sclerosis (MS) has been consistently associated with the HLA-DR2 haplotype and particularly with the HLA-DRB1*15 allele. Epistatic interactions between both parental alleles in the DRB1 loci have been shown to modify the MS susceptibility risk. This study investigated the frequencies o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.07.026
更新日期：2010-11-15 00:00:00
abstract：:Recordings have been made from afferent fibres shown to traverse a focal demyelinating lesion induced in the dorsal columns of the cat by the direct micro-injection of lysophosphatidyl choline. Many fibres were spontaneously active, discharging with steady frequencies between 15 and 45 impulses per second or dischargi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(82)90168-x
更新日期：1982-07-01 00:00:00
abstract：:Antibodies against LGI1 (leucin-rich glioma-inactivated 1 protein) are associated with limbic encephalitis (LE), which is characterized by a favorable outcome following immunotherapy. Here, we present two cases, where antibodies against LGI1 were detected in the sera 36 and 53 months after acute LE, respectively, and ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.05.048
更新日期：2014-08-15 00:00:00
abstract：BACKGROUND:Postganglionic cardiac sympathetic denervation is evident in patients with early-stage Parkinson's disease (PD). Cardiac iodine-123-meta-iodobenzylguanidine (MIBG) uptake is correlated with the non-motor symptoms of PD, suggesting that low cardiac MIBG uptake may reflect wider alpha-synuclein pathology. In a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.09.010
更新日期：2017-10-15 00:00:00
abstract：BACKGROUND & AIMS:We aimed to determine neural correlates of olfactory detection and identification and analyze associations between cognitive function and olfactory identification or detection in very mild amnestic patients. METHODS:We recruited 70 patients with chief complaints of memory impairment diagnosed as amne...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116686
更新日期：2020-04-15 00:00:00
abstract：:The aim of this study was to determine the effectiveness of hypoglossal-facial nerve "side"-to-end (HemiHN-FN) and accessory-facial nerve end-to-end (AN-FN) neurorrhaphy using a predegenerated nerve graft (PNG) for reanimating facial paralysis in a rat FN injury model. A total of 25 rats with complete unilateral facia...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.10.006
更新日期：2014-12-15 00:00:00
abstract：:As we learn more about the relationships between depression and cerebrovascular disease (CVD), a complex picture is emerging in which the chain of causality seems to spiral on itself: progressive or focal brain damage, cognitive impairment, depressive symptoms, dementia, and cardiovascular diseases, all seem to be lia...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2004.09.012
更新日期：2004-11-15 00:00:00
abstract：:Chronic relapsing experimental allergic encephalomyelitis has been induced in juvenile strain 13 guinea pigs with isologous spinal cord in Freund's complete adjuvant. Retention of antigen at the injection site and in the draining lymph nodes was studied by immunocytochemical staining with antiserum to myelin basic pro...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(84)90145-x
更新日期：1984-10-01 00:00:00
abstract：:An ultrastructural study of a case of sacral chordoma is reported. The cell type was monomorphic. The epithelial nature and the secretory function of the tumour cells was obvious in view of their content of desmosomes and the presence of mucopolysaccharide in the ergastoplasm and in the extracellular space. Because of...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(75)90157-4
更新日期：1975-07-01 00:00:00
abstract：OBJECTIVE:Naftopidil is used clinically for the treatment of voiding disorders in benign prostatic hyperplasia. Previous in vivo experiments in which naftopidil was applied intrathecally abolished rhythmic bladder contraction, suggesting that naftopidil might inhibit a voiding reflex through interaction with spinal dor...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.07.030
更新日期：2017-09-15 00:00:00
abstract：:The role of excitotoxicity on the neuropathology of glutaric acidemia type I (GA I) is still under debate. Therefore, in the present work, we evaluated glutamate uptake by brain slices and glutamate binding to synaptic membranes, as well as glutamine synthetase activity in cerebral cortex and striatum from glutaryl-Co...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.09.003
更新日期：2014-11-15 00:00:00
abstract：BACKGROUND:ew drugs were confirmed to be effective in the treatments of neurological dysfunction caused by acute intracerebral hemorrhage (ICH). The present prospective clinical trial aims to evaluate the effect of mouse nerve growth factor (mNGF) on neurological function in patients with acute ICH. METHODS:60 patient...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117069
更新日期：2020-11-15 00:00:00
abstract：:Previous case-control studies in Japanese and ethnic Chinese populations reported that the LRRK2 Gly2385Arg variant is a risk factor for Parkinson's disease (PD). We aimed to validate the previous findings and investigate whether cigarette smoking influences the relationship between the Gly2385Arg variant and PD. Incl...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.07.002
更新日期：2010-10-15 00:00:00
abstract：BACKGROUND:Although predominantly reported in patients with status epilepticus, periictal MRI abnormalities have been reported in patients with a single or a cluster of seizures. Clinicians are often presented with a dilemma concerning the features of MRI abnormalities induced by a single or a cluster of seizures, as t...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.06.001
更新日期：2014-08-15 00:00:00
abstract：:Outcome after aSAH depends on several factors, including the severity of the initial event, perioperative medical management, surgical variables, and the incidence of complications. Cerebral vasospasm (CV) is ure to consistently respond to treatment, emphasizing the need for further research into the underlying mechan...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.04.046
更新日期：2007-10-15 00:00:00
abstract：:In view of recent reports on lower brainstem dysfunction in Huntington's chorea, we studied respiration during sleep in 12 patients with Huntington's chorea (HC) and in controls. There were no statistically significant differences between patients and controls with respect to apnea periods, respiratory frequency and t...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90174-8
更新日期：1988-03-01 00:00:00
abstract：PURPOSE:Intracranial bleeding and inflammatory reactions are common consequences of traumatic brain injury (TBI). Neutrophil gelatinase-associated lipocalin (NGAL), an iron-handling and acute phase protein, may participate in the pathogenesis of TBI. Therefore, we hypothesize that NGAL may be of high diagnostic and the...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.07.060
更新日期：2016-09-15 00:00:00
abstract：BACKGROUND:Although single-photon emission computerized tomography of the dopamine transporter (DAT-SPECT) is useful for diagnosing parkinsonian syndrome, its applicability toward the early phase of Parkinson's disease remains unknown. METHODS:We enrolled 32 patients showing parkinsonism with normal cardiac 123I-metai...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.04.026
更新日期：2017-06-15 00:00:00
abstract：:The analysis of human skeletal muscle mitochondria revealed a progressive decline in mitochondrial respiratory chain function with age. The activities affected to the greatest extent were those of complexes I and IV which were decreased by 59% and 47% respectively between the ages of 20-30 years and 60-90 years of age...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(92)90270-u
更新日期：1992-11-01 00:00:00
abstract：OBJECTIVE:To describe the neurological and neuroradiological features of acquired hemophagocytic lymphohistiocytosis (HLH) in adulthood by reporting a series of cases. METHODS:Ten consecutive patients who were diagnosed with HLH at Medstar Georgetown University Hospital and Walter Reed National Military Medical Center...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.07.017
更新日期：2015-10-15 00:00:00
abstract：BACKGROUND:Percutaneous endoscopic gastrostomy (PEG) is offered to amyotrophic lateral sclerosis (ALS) patients with severe dysphagia. Immediate benefits of PEG are adequate food intake and weight stabilization. However, the impact of PEG on survival is still uncertain. In this work we retrospectively evaluated the eff...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.02.016
更新日期：2011-05-15 00:00:00
abstract：:Transgenic mice that express the G93A mutation of human Cu,Zn superoxide dismutase (SOD1(G93A)), found in familial amyotrophic lateral sclerosis (FALS), showed clinical symptoms and histopathological changes of sporadic ALS, including fragmentation of the neuronal Golgi apparatus (GA). The finding of fragmented neuron...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00300-7
更新日期：2000-02-01 00:00:00
abstract：:Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a rare, life-threatening disease, caused by point mutations in the transthyretin gene. It is a heterogeneous, multisystem disease with rapidly progressing polyneuropathy (including sensory, motor, and autonomic impairments) and cardiac dysfunction. M...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2019.116424
更新日期：2019-10-15 00:00:00
abstract：BACKGROUND:Stroke is one of the most disabling and burdensome health conditions worldwide, but no prospective population-based study has been conducted in Spain. Our aim was to assess age- and gender incidence rates of cerebrovascular disease, including stroke and transient ischemic attack, in three populations in cent...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.08.003
更新日期：2010-11-15 00:00:00
abstract：:Hypnic headache (HH) is a rare benign disorder described initially by Raskin in 1988. It is characterized by recurrent nocturnal episodes of headache that periodically awaken the sleeping patient and usually occur in the elderly. This review aimed to describe the clinical features of the HH cases published in the lite...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2019.04.028
更新日期：2019-06-15 00:00:00
abstract：OBJECTIVE:HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) can progress slowly or rapidly even though a set of symptoms such as spastic paraparesis with pathological reflexes and sweating loss of the lower extremities are commonly observed in patients. Although most of the patients are thought to be ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.10.030
更新日期：2016-12-15 00:00:00
