Abstract:
:We examined the characteristic clinical features of one family of familial amyotrophic lateral sclerosis (FALS) with a His46Arg mutation in the enzyme Cu/Zn superoxide dismutase-1 (SOD1). The disease duration for this family was 18.1 +/- 13.2 (mean +/- S.D.) years, with the age at onset being 39.7 +/- 10.5 years old (mean +/- S.D.). The initial sign was distal weakness of the unilateral lower limb, extending to the lower limb of the other side. A wheel chair became necessary at 9.8 +/- 3.2 years after the onset. Upper limb weakness started at 15.5 +/- 8.9 years following from the onset. An autopsy was performed on a 71-year-old woman of the family with the mutation. Her disease duration was 47 years, and she died of pneumonia. She had no clear upper motor neuron involvement. Bulbar sign and respiratory muscle weakness had developed 2 years before her death. Neuropathological findings showed degeneration of corticospinal tracts, anterior/posterior spinocerebellar tracts, posterior columns, and Clarke's columns. There were few anterior horn cells in the lumbar spinal cord and no Lewy body-like hyaline inclusion bodies in these remaining anterior horn neurons. This is the first autopsy report of FALS with a His46Arg mutation in the SOD1 enzyme.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Ohi T,Saita K,Takechi S,Nabesima K,Tashiro H,Shiomi K,Sugimoto S,Akematsu T,Nakayama T,Iwaki T,Matsukura Sdoi
10.1016/s0022-510x(02)00054-0subject
Has Abstractpub_date
2002-05-15 00:00:00pages
73-8issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022510X02000540journal_volume
197pub_type
杂志文章abstract::Nitric oxide (*NO)-mediated toxicity has been involved in neurodegenerative diseases, including Parkinson's disease (PD). We have recently reported an increase of about 50% in *NO production rate in PMA-activated polymorphonuclear leukocytes (PMN) from either newly diagnosed or chronically treated PD patients. As humo...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(99)00079-9
更新日期:1999-05-01 00:00:00
abstract:BACKGROUND:Chorea is a common presenting feature of metabolic disorders, including nonketotic hyperglycemia in patients with type 2 diabetes mellitus, but rarely has been reported in diabetic ketoacidosis, hypothyroidism and vitamin B12 deficiency. METHODS:Review the literature for reported cases of chorea as a presen...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.04.038
更新日期:2014-07-15 00:00:00
abstract::Hitherto published results on the impact of brain atrophy on the neurological and psychopathological sympion of this problem without risk of complications. We investigated 173 parkinsonian patients (89 men, 84 women) aged 37--83 years. Besides CT in all patients a standardized neurological and psychopathological inves...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(79)90050-9
更新日期:1979-07-01 00:00:00
abstract::The presence of postural disturbance in patients with Parkinson's disease (PD) was assessed by the displacement of the centre of foot pressure (CFP) and by changes in the amplitude of the soleus H-reflex when patients maintained an upright standing posture, followed by a forward-leaning posture. Thirteen patients and ...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/s0022-510x(97)00175-5
更新日期:1997-12-09 00:00:00
abstract:OBJECTIVE:This study reviewed our experience in treating patients with vestibular schwannoma (VS) who had acute sensorineural hearing loss (ASHL) early after radiosurgery. PATIENTS AND METHODS:Seventy VS patients underwent cyberknife radiosurgery. Of them, 6 patients had ASHL early (<6 m) after radiosurgery (Group A),...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2019.02.008
更新日期:2019-04-15 00:00:00
abstract:BACKGROUND:Postural instability is often experienced in the late stages of PD and is a marker of disease progression. Little information is available on the role of visual inputs as an adaptive strategy to compensate for postural instability in PD. The purpose of this study was to determine visual dependency for postur...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.01.022
更新日期:2015-02-15 00:00:00
abstract::A suspension of kaolin was injected into the cisterna magna of 44 rats at 2 weeks of age. Animals killed at intervals from 5--19 weeks of age showed varying degrees of hydrocephalus. Light microscopy, scanning and transmission electron microscopy revealed stretching and flattening of the ependymal cells but no signifi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(78)90046-1
更新日期:1978-05-01 00:00:00
abstract::The levels of the neuroprotective excitatory amino acid receptor antagonist kynurenic acid (KYNA) have been previously shown to be reduced in several regions of the brain of Huntington's disease (HD) patients. Thus, KYNA has been speculatively linked to the pathogenesis of HD. We have examined KYNA levels and the acti...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)00280-2
更新日期:1995-05-01 00:00:00
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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
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2004.07.002
更新日期:2004-10-15 00:00:00
abstract::HS1-associated protein X-1 (HAX-1) and presenilin-associated rhomboid-like protein (PALR) were reported to play an important role in the activation of HtrA2/Omi, which is also designated PARK13, in the mitochondria. To elucidate the role of HAX-1 and PARL in patients with Parkinson's disease (PD) and dementia with Lew...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.116928
更新日期:2020-08-15 00:00:00
abstract::The aim of the present study was to determine whether a cognitive decline, related to multiple sclerosis (MS), also involves deficits in semantic memory. Semantic memory function was evaluated by studying the conscious understanding of conceptual meanings. A group of MS patients with cognitive decline was presented wi...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/s0022-510x(98)00314-1
更新日期:1999-01-15 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::Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutations in the dystrophin gene and is characterized by muscle degeneration and death. DMD affects males; females being asymptomatic carriers of mutations. However, some of them manifest symptoms due to a translocation between X chromosome a...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.09.036
更新日期:2014-01-15 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::A boy, who had shown muscle weakness and hypotonia from early childhood and fiber type disproportion (FTD) with no dystrophic changes on muscle biopsy, was initially diagnosed as having congenital fiber type disproportion (CFTD). Subsequently, he developed cardiac conduction blocks. We reconsidered the diagnosis as po...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.02.036
更新日期:2014-05-15 00:00:00
abstract::Two groups of "mdx" mice, totalling 36 animals of both sexes aged between 8 and 30 weeks, have been studied. In the first group of 10 males and 10 females, 8 males (at 8, 12, 20 and 30 weeks) and 4 females (at 12 and 30 weeks) showed severe limb muscle degeneration and inflammation with prominent regeneration and cent...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(86)90003-1
更新日期:1986-02-01 00:00:00
abstract:BACKGROUND:Pseudoxanthoma elasticum (PXE) is a monogenetic disease with progressive calcification of arteries and potential risk of stroke. To gain insights in the cerebral involvement in PXE, we evaluated prevalence and determinants of cerebral disease in our PXE cohort and performed a systematic review of literature....
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2016.12.053
更新日期:2017-02-15 00:00:00
abstract::Healthy brain tissue pulsates with the cardiac cycle, but whether brain tissue pulsations (BTPs) are impaired by tissue ischemia due to ischemic stroke is currently unclear. This study is the first to explore the clinical potential of measuring BTPs using ultrasound in acute ischemic stroke patients. BTPs were measure...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.117164
更新日期:2020-12-15 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
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2018.01.039
更新日期:2018-04-15 00:00:00
abstract::Proteolipid protein (PLP) is the major protein of central nervous system (CNS) myelin. In some species, intradermal inoculation with PLP and adjuvants causes experimental autoimmune encephalomyelitis (PLP-EAE) characterized by neurological signs of tail and limb weakness and by inflammation and demyelination in the CN...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90218-6
更新日期:1994-05-01 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:BACKGROUND:Ischemic stroke that is sufficiently severe to cause loss of consciousness has a high rate of morbidity and mortality. Many individuals who suffer from these disorders never recover conscious awareness. In this study, we aimed to identify an accurate and simple bedside method to predict awareness recovery af...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.10.034
更新日期:2017-12-15 00:00:00
abstract::Five human brain tumours (3 glioblastomas and 2 astrocytomas) and 5 rat brain tumours induced in Sprague--Dawley animals by systemic administration of N-methyl-N-nitrosourea (3 pleomorphic gliomas and 2 mixed gliomas) were studied. The human brain tumours were surgical specimens excised from patients with no cranial s...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90200-3
更新日期:1977-08-01 00:00:00
abstract::Fibroblasts obtained from patients with Friedreich's ataxia and normal control subjects were studied by immunocytochemistry for intermediate filament vimentin and also for in vitro proliferation. Trypsinized cells were seeded on coverslips and incubated for 1.5 h and 24 h. The expression of vimentin in cells was inves...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(93)90168-x
更新日期:1993-07-01 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::Motor neurone disease (MND) is a useful paradigm for many progressive disabling neurological disorders and serves as a particularly opposite model for the study of patients' responses to progressive and irreversible disability. We studied the progression of disability and the patients' perception of their health in a ...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/0022-510x(95)00062-7
更新日期:1995-05-01 00:00:00
abstract::DNA amplification of three Mycobacterium tuberculosis-specific DNA sequences by the polymerase chain reaction (PCR) were evaluated as a means for rapid diagnosis of tuberculous meningitis (TBM). The DNA sequences amplified were a 123 bp region of the IS6110 insertion elements which occur in multiple copies in the myco...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90220-8
更新日期:1994-05-01 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