Abstract：
:An accumulation of SCA6 cases has been observed in the Chugoku area of Western Japan. In the Tottori prefecture, located in the northeastern part of the Chugoku district, we observed a cluster of SCA6 families within the eastern area, suggesting that there may be a founder in the Japanese SCA6 population. Genotyping with DNA microsatellite markers linked to the CACNL1A4 gene on chromosome 19p13 demonstrated shared allelic characteristics and revealed a common haplotype in the majority of Japanese families. The common haplotype of the shared (CAG)(22) repeat found in this study may indicate the meiotic stability of CAG repeats in SCA6 patients.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Mori M,Adachi Y,Kusumi M,Nakashima Kdoi
10.1016/s0022-510x(01)00453-1subject
Has Abstractpub_date
2001-03-15 00:00:00pages
43-7issue
1eissn
0022-510Xissn
1878-5883pii
S0022510X01004531journal_volume
185pub_type
杂志文章abstract：:This paper reviews the current state of knowledge about the use of diffusion-weighted MRI in the field of multiple sclerosis (MS) research. The contribution that diffusion-weighted imaging has made to our understanding of MS is critically appraised, and pointers are given to the sort of work that needs to be done befo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/s0022-510x(01)00492-0
更新日期：2001-05-01 00:00:00
abstract：OBJECTIVE:To assess age-, gender, and subtype-specific incidence rates of dementia in three populations in central Spain using data from the Neurological Disorders in Central Spain (NEDICES), a population-based survey of elderly participants. METHODS:Individuals were evaluated at baseline (1994-1995) and at follow-up ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.07.021
更新日期：2008-01-15 00:00:00
abstract：:We report median and digital nerve somatosensory evoked potentials (SEPs) in 14 patients with probable progressive supranuclear palsy (PSP) along with transcortical long-loop reflexes, motor evoked potentials, and auditory startle responses. Enlarged cortical responses were found in 14 median and 13 digital nerve SEP ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(00)00383-x
更新日期：2000-10-01 00:00:00
abstract：:There is little information available on the number of patients with movement disorders seen by physicians in Thailand. The authors reviewed the medical records of all movement disorders patients seen at the Chulalongkorn Comprehensive Movement Disorders Center (CUMDS) in Bangkok, Thailand over a 4.5-year period to de...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.11.010
更新日期：2011-02-15 00:00:00
abstract：:Radiation-induced (RI) peripheral neuropathy is a rare and severe delayed complication of radiotherapy that is spontaneously irreversible, with no standard of treatment. We previously developed a successful antioxidant treatment in RI fibrosis and necrosis. Two patients with progressive worsening RI lumbosacral polyra...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.08.004
更新日期：2008-12-15 00:00:00
abstract：OBJECTIVE:It has been suggested that autoantibodies may induce axonal damage in multiple sclerosis (MS). Optical coherence tomography (OCT) showed that thinning of peripapillary retinal nerve fiber layer (RNFL) and ganglion cell layer/inner plexiform (GCIPL) measurements reflect axonal loss in the disease. We investiga...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.11.030
更新日期：2016-01-15 00:00:00
abstract：:Aceruloplasminemia is a disorder of iron metabolism caused by mutations in the ceruloplasmin gene. It is characterized by progressive neurodegeneration of the retina, basal ganglia, dentate nucleus and cerebral cortex in association with iron accumulation in these tissues. Enzyme activities in the mitochondrial respir...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(00)00452-4
更新日期：2000-12-15 00:00:00
abstract：:The cerebrospinal fluid tap test (CSFTT) is widely used to diagnose idiopathic normal pressure hydrocephalus (iNPH) and predict the therapeutic effectiveness of shunting. However, the ability to walk cannot be quantified for patients who are unable to walk. Therefore, we examined whether the iNPH diagnostic aid is pos...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.10.009
更新日期：2016-12-15 00:00:00
abstract：:To develop diagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP), a retrospective series of patients' records diagnosed by sexpert consensus as CIDP or other chronic polyneuropathies were analyzed. Classification and regression tree analysis was applied to 150 patients to derive a classifica...
journal_title：Journal of the neurological sciences
pub_type： 共识发展会议,杂志文章
doi：10.1016/j.jns.2008.11.015
更新日期：2009-02-15 00:00:00
abstract：:Somatoform Disorders (SFMD) were recently described in Parkinson Disease (PD) and Dementia with Lewy Bodies (DLB). The present paper updates the observations in our cohort of patients and further details clinical phenomenology. Of 3178 patients consecutively referred to our Institutions from 1999, 1572 subjects had ne...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.07.010
更新日期：2011-11-15 00:00:00
abstract：:We studied the limitations to early diagnosis in amyotrophic lateral sclerosis (ALS). The diagnostic process was assessed in 120 consecutive patients, including onset, interval to diagnosis, investigations, specialist assessment and pre-diagnostic management. Times from onset to first consultation (T1), second consult...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.06.003
更新日期：2014-08-15 00:00:00
abstract：:Quantitative analysis of motor unit potentials (MUPs) with spike triggering and averaging was performed from the mildly affected brachial biceps muscle of 18 patients with amyotrophic lateral sclerosis (ALS) and of 18 age-matched controls. The total MUP duration was only 6% higher in ALS patients than in controls (P l...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90242-f
更新日期：1990-02-01 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：:Long-term effects of MPTP on striatal dopamine (DA) content and the influence of aging on the recovery were investigated in mice. Male C57BL/6J mice, young (2-month-old) and mature (10-month-old), were used. Two different dosage schedules of MPTP, i.e., 4 doses subcutaneous injections of 20 mg/kg each, and 4 doses sub...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90125-0
更新日期：1987-02-01 00:00:00
abstract：OBJECTIVE:Cerebral gas embolism (CGE) is a potentially catastrophic complication of central venous catheters (CVCs) manipulation or accidental disconnection, which is rarely reported in the literature. This systematic review aims to characterize the clinical manifestations, imaging features and outcome of CGE associate...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2016.01.043
更新日期：2016-03-15 00:00:00
abstract：BACKGROUND:The timed-up-and-go test (TUG) is a popular test for mobility, but it only measures the total time to complete tasks. Recent advances in smartphone technology enables measuring respective times of 6 components in the test (Stand, Go, Turn1, Come, Turns and Sit). We examined availability of these data for ass...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.01.023
更新日期：2019-03-15 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 is aimed at describing the clinical features of the HH cases in childhood tha...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2015.06.048
更新日期：2015-09-15 00:00:00
abstract：:Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominen...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.01.008
更新日期：2007-03-15 00:00:00
abstract：:The purpose of this study is to compare the therapeutic effects between autologous and allogenic bone-marrow-derived mesenchymal stem cell (MSC) transplantation in experimentally-induced spinal cord injury (SCI) of dogs. Thirty adult Beagle dogs (control group=10, autologous group=10, and allogenic group=10) were used...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.05.027
更新日期：2009-10-15 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：: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：:Axonal degeneration plays an important role in the accumulation of disability in patients with multiple sclerosis (MS). Pathological studies have demonstrated axonal damage, particularly in areas of acute inflammation and demyelination, and in chronic lesions. Axonal loss and its progression, which is associated with ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/s0022-510x(99)00178-1
更新日期：1999-11-15 00:00:00
abstract：:Two siblings who exhibited hereditary parkinsonism with pyramidal signs and cerebellar ataxia are reported. Anticholinergics had a dramatic beneficial effect in both cases, but levodopa did not. This responsiveness, which is similar to that reported in patients with Joseph's disease, suggests dysfunction of an "indire...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90028-0
更新日期：1994-09-01 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：:Riluzole is the first drug to be approved in the United States for the treatment of amyotrophic lateral sclerosis (ALS). During the first 8 months of the drug's availability by prescription, its use was discussed with 46 patients with probable or definite ALS as defined by the E1 Escorial criteria. Seventeen of the pa...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/s0022-510x(97)00250-5
更新日期：1997-10-01 00:00:00
abstract：:Immunologically pure IgG was isolated from serum of multiple sclerosis (MS) patients and normal controls. The F(ab)2 moiety of IgG was then isolated by salting out between 12.5 and 19.0% Na2SO4 of the pepsin digest of IgG. The ability of the 131I-labelled F(ab)2 to bind to subcellular brain fractions (nuclei, synaptos...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90063-1
更新日期：1983-08-01 00:00:00
abstract：:Association of changes in olfactory-related structures with olfactory function in patients with multiple sclerosis (MS) is not well understood. We used a T&T olfactometer test kit to evaluate olfactory function in 26 patients with MS and 26 age- and sex-matched healthy controls (HC). Then, Brain MRI were performed and...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.03.045
更新日期：2016-06-15 00:00:00
abstract：:In 13 patients with familial dysautonomia sleep recordings were obtained to investigate the possibility that autonomic nervous system dysfunction plays a role in disordered breathing during sleep. Sleep structure in some of our patients was abnormal, showing decreased amount of REM sleep and increased REM latencies. A...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90131-4
更新日期：1983-07-01 00:00:00
abstract：:Friedreich Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder most commonly caused by guanine-adenine-adenine (GAA) trinucleotide repeat expansions in both alleles of the FXN gene. Although progressive ataxia remains the hallmark clinical feature, patients with FRDA are at high risk of developing cardi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.01.027
更新日期：2017-04-15 00:00:00
abstract：:Lipopolysaccharide (LPS) induces a strong immune response, and pretreatment with low dose of LPS suppresses the production of proinflammatory mediators. In the present study, we investigated the effect of LPS preconditioning on the delayed neuronal death in the gerbil hippocampal CA1 region after 5 min of transient ce...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.06.004
更新日期：2010-09-15 00:00:00
