Abstract:
:The present study shows biochemical data on skeletal muscle from 5 patients with Kearns-Sayre syndrome (KSS). Enzyme activities per muscle wet weight in the electron transport system of inner mitochondrial membrane were not significantly different in KSS from those in normal subjects except one patient with long duration of symptoms. On the other hand, mitochondrial contents were increased and enzyme activities per mitochondrial protein in the electron transport system were markedly decreased in the muscle of all cases. These results suggest that the decreased enzyme activity of the mitochondrial electron transport system in each mitochondrion may result in a compensatory increase in mitochondrial contents in the muscle of KSS.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Yorifuji S,Ogasahara S,Takahashi M,Tarui Sdoi
10.1016/0022-510x(85)90037-1subject
Has Abstractpub_date
1985-11-01 00:00:00pages
65-75issue
1eissn
0022-510Xissn
1878-5883pii
0022-510X(85)90037-1journal_volume
71pub_type
杂志文章abstract::Genetic linkage studies were performed in 12 British families with von Hippel-Lindau disease (VHL) using RFLPs at three loci (DNF15S2, THRB, RAF1) on the short arm of chromosome 3. Linkage was detected between the VHL disease locus and RAF1 with a maximum lod score of 3.88 at a recombination fraction of 0.05 (confiden...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(90)90008-b
更新日期:1990-12-01 00:00:00
abstract:BACKGROUND:Previous studies regarding the association between restless legs syndrome (RLS) and Parkinson's disease (PD) have produced contradictory results. However, the time frame between them has varied across these studies, and also, the longitudinal trajectroy of RLS symptoms has not been considered. OBJECTIVE:To ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2018.08.028
更新日期:2018-11-15 00:00:00
abstract::To elucidate a possible role of vitamin A in the pathogenesis of Parkinson's disease (PD) we compared serum levels of retinol (vitamin A), measured by HPLC, and the vitamin A/retinol binding protein (RBP) ratio of 42 PD patients (22 males and 20 females, mean age 67.3 +/- 1.34 years) and their respective spouses as co...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(92)90114-z
更新日期:1992-08-01 00:00:00
abstract::Epstein-Barr virus (EBV) is a human DNA herpesvirus infecting more than 90% of the world's population. EBV is the etiological agent of infectious mononucleosis (Pfeiffer's disease). Furthermore, diverse malignancies such as Burkitt and Hodgkin lymphoma have been associated with EBV. More recently, a possible role for ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2009.03.028
更新日期:2009-11-15 00:00:00
abstract::Anti-Yo antibodies are present in the sera and cerebrospinal fluid of some patients with paraneoplastic cerebellar degeneration (PCD), but there is no evidence that the presence of anti-Yo antibodies causes the Purkinje cell loss seen in PCD patients. We examined the level of cytotoxic T lymphocyte (CTL) activity agai...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(99)00163-x
更新日期:1999-09-15 00:00:00
abstract::Predicting clinical outcome is one of the major and most interesting issues in MS patients. If the global evolution of disability (usually chosen levels on the Kurtzke's Disability Status Scale) has been widely studied, much less is known about the progression of disability during the secondary progressive phase of th...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/s0022-510x(02)00426-4
更新日期:2003-02-15 00:00:00
abstract::Multiple sclerosis is an inflammatory disease of the central nervous system (CNS) which includes a neurodegenerative component. Brain derived neurotrophic factor (BDNF) is a neuroprotective agent which might be useful in preventing neurodegeneration but its application has been limited because the blood brain barrier ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2008.02.011
更新日期:2008-07-15 00:00:00
abstract::We assessed the relationship between key trace elements and neurocognitive and motor impairments observed in konzo, a motor neuron disease associated with cassava cyanogenic exposure in nutritionally challenged African children. Serum concentrations of iron, copper, zinc, selenium, and neurotoxic lead, mercury, mangan...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.01.007
更新日期:2015-02-15 00:00:00
abstract::To evaluate the association between the tumor necrosis factor beta (TNF-β) NcoI polymorphism and inflammatory and metabolic markers in patients with multiple sclerosis (MS) patients and the association of these markers with disease disability, a 782 base-pair fragment of the TNF-β gene was amplified from genomic DNA a...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.08.016
更新日期:2014-11-15 00:00:00
abstract::Histone deacetylases (HDACs), or lysine deacetylases (KDAC), are epigenetic regulators that catalyze the removal of acetyl moieties from the tails of lysine residues of histones and other proteins. To date, eighteen HDAC family members (HDAC1-11 and SIRT1-7) have been identified and grouped into four classes according...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2011.02.017
更新日期:2011-05-15 00:00:00
abstract::Motor evoked potentials (MEP) were recorded in 23 patients with definite relapsing multiple sclerosis before and after treatment with a short course of high dose of methylprednisolone. MEP were performed together with clinical examination just before treatment, and 6 and 60 days later. The following results were obser...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(92)90049-q
更新日期:1992-04-01 00:00:00
abstract::Antibodies to the myelin-associated glycoprotein (MAG) are implicated in the pathogenesis of an acquired demyelinating polyneuropathy. We studied IgM affinity to MAG in 18 patients with anti-MAG antibodies. Binding of sera was tested for anti-MAG immunoreactivity in central nervous system (CNS) by ELISA and in CNS and...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(02)00359-3
更新日期:2003-03-15 00:00:00
abstract:PURPOSE:Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder. The underlying neural mechanisms have not been fully understood. This study aimed to examine the alteration of resting-state functional connectivity (RSFC) between interhemispheric homotopic regions in PKD using a technique called "voxel-mirro...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.02.046
更新日期:2015-04-15 00:00:00
abstract::A case of chorea-acanthocytosis (CA) syndrome is described. The presence of acanthocytes has usually been considered an important diagnostic marker of CA. However, it is not specific and other neurological diseases have to be considered. In the present report we rule out other diagnostic possibilities and show that th...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(99)00005-2
更新日期:1999-03-01 00:00:00
abstract:BACKGROUND:Blocking the activity of IL-12/23 can inhibit autoimmune diseases such as psoriasis. OBJECTIVE:We examined whether an antibody against IL-12/23, ustekinumab (UTZ) (Stelera®), used clinically in psoriasis would have similar anti-inflammatory effects in EAE after oral administration. DESIGN/METHODS:B6 mice w...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.12.011
更新日期:2016-02-15 00:00:00
abstract::Increased resistance to ischemic nerve conduction failure (RINCF) has been demonstrated in the spontaneously diabetic BB Wistar rat as well as in non-insulin dependent but hyperglycemic litter-mates. There is marked variability in the severity of the ischemic resistance in insulin dependent rats but not in the non-ins...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(89)90161-5
更新日期:1989-10-01 00:00:00
abstract:BACKGROUND:Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy, also called distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (HIBM), is a rare, progressive autosomal recessive disorder caused by mutations in the GNE gene. Here, we examined the relationship b...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.03.016
更新日期:2012-07-15 00:00:00
abstract::The neuropathology of 8 cases of S. Paulo south coast epidemic encephalitis (Rocio flavivirus), a new arbo B virus encephalitis, is described. The topographic pattern of the lesions appears to be almost specific. The gray matter is predominantly affected. Interstitial mononuclear infiltration, microglial proliferation...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(80)80001-3
更新日期:1980-02-01 00:00:00
abstract::Common pathogenic mechanisms may be involved in the prevalence of ischemic stroke and coronary heart disease. Recently, genome-wide association (GWA) studies identified a chromosome region (9p21) that confers the risk of coronary heart disease. In a hospital-based case-control study conducted in Chinese Hans, we teste...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.04.013
更新日期:2009-09-15 00:00:00
abstract::The retrovirus that causes the acquired immunodeficiency syndrome (AIDS) has two targets: the immune system and the nervous system. Central nervous system (CNS) manifestations of AIDS are protean. This review describes the opportunistic infections and malignancies that affect the nervous system in AIDS, and discusses ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/0022-510x(89)90013-0
更新日期:1989-02-01 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::gamma-Aminobutyric acid (GABA), substance P and dopamine concentrations and choline acetyltransferase (ChAT) activity were measured in post-mortem cerebrocortical and basal ganglial areas of 14 controls and 4 patients with pathologically verified Pick's disease (1 classic case and 3 cases of the generalized form). GAB...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(88)90020-2
更新日期:1988-01-01 00:00:00
abstract::The concentrations of sixteen amino acids have been measured in the serum and cerebrospinal fluid (CSF) of patients with Parkinson's disease and compared with those of control subjects. The levels of most amino acids were not different between the two groups, but the level of glutamate in CSF was decreased significant...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/s0022-510x(97)00119-6
更新日期:1997-10-22 00:00:00
abstract::Multiple sclerosis (MS) is an inflammatory disease of the central nervous system, predominantly, but not exclusively, involving the normal appearing white matter. Until very recently we believed that nervous dysfunction in MS was completely depending on the accumulation of lesions in the white matter of the CNS. As a ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2007.09.001
更新日期:2008-02-15 00:00:00
abstract::Neurological injuries produced by explosive blasts are the result of a cascade of events that begin with the initial explosion and evolve from the secondary, tertiary, and quaternary effects that the explosion engenders [Lavonis EJ. Blast Injuries. EMedicine.htm]. Only the results of the primary blast are predictable,...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2006.06.005
更新日期:2006-11-01 00:00:00
abstract::Opsoclonus-myoclonus syndrome (OMS) is characterized by opsoclonus and arrhythmic-action myoclonus that predominantly involves the trunk, limbs, and head. Human herpes virus-6 (HHV-6) can rarely cause encephalitis in immunocompetent children and adults. Here we report on a case of OMS associated with HHV-6 rhomboencep...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.04.013
更新日期:2014-06-15 00:00:00
abstract:OBJECTIVE:To provide an improved method for the identification and analysis of brain tumors in MRI scans using a semi-automated computational approach, that has the potential to provide a more objective, precise and quantitatively rigorous analysis, compared to human visual analysis. BACKGROUND:Self-Organizing Maps (S...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.10.032
更新日期:2015-12-15 00:00:00
abstract::In two different studies, monkeys were fed diets with 50% and 30% of calories replaced with alcohol for 5 and 3 years, respectively. Nerves were studied with electrophysiological and quantitative histological methods, but no deleterious effect of alcohol was identified. ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(87)90221-8
更新日期:1987-08-01 00:00:00
abstract::In rabbits subjected to bicuculline (BC)- or pentylenetetrazole (PTZ)-seizures of 3 or 20 min duration or to adrenaline-induced hypertension, specific gravity (SG) was measured bilaterally in 15 regional brain areas in order to detect possible associations between the regionally limited blood-brain barrier openings du...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(84)90030-3
更新日期:1984-05-01 00:00:00
abstract::Wernicke's encephalopathy is often undiagnosed, particularly in non-alcoholics. There are very few reports of non-alcoholic patients diagnosed with Korsakoff syndrome in the absence of a prior diagnosis of Wernicke's encephalopathy and no studies of diffusion tensor imaging in non-alcoholic Korsakoff syndrome. We repo...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.09.025
更新日期:2016-11-15 00:00:00