Abstract:
:Several missense mutations within exons 1, 2, 4 and 5 of the gene for Cu/Zn-binding superoxide dismutase (SOD1) have been discovered to be involved in the development of chromosome 21q-linked familial amyotrophic lateral sclerosis (FALS). We describe here an autopsied patient with FALS, in whom we have recently identified a novel missense mutation in exon 1 of the SOD1 gene. The neuropathological findings were compatible with those described previously in patients with FALS with posterior column involvement. This suggests that mutations of the SOD1 gene may be responsible for this form of FALS.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Takahashi H,Makifuchi T,Nakano R,Sato S,Inuzuka T,Sakimura K,Mishina M,Honma Y,Tsuji S,Ikuta Fdoi
10.1007/BF00294513subject
Has Abstractpub_date
1994-01-01 00:00:00pages
185-8issue
2eissn
0001-6322issn
1432-0533journal_volume
88pub_type
杂志文章abstract::The mechanism of antibody-mediated central nervous system (CNS) demyelination in vivo was studied using rabbit eyes. Injection of anti-galactocerebroside (Gal C) antiserum alone into the normal rabbit vitreous body induced demyelination in the epiretinal myelinated fibers. This activity of the antiserum disappeared af...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687890
更新日期:1989-01-01 00:00:00
abstract::We investigated whether the brainstem is affected by the pathologic process of sporadic Creutzfeldt-Jakob disease (sCJD), with particular attention to brainstem atrophy, neuronal loss, pyramidal tract degeneration, and prion protein (PrP) deposition, in 33 patients with sCJD. Brainstem atrophy, particularly in the pon...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-005-0981-0
更新日期:2005-06-01 00:00:00
abstract::Histamine dihydrochloride (10 micrograms of 500 micrograms/ml) was infused during 1 min into the lateral cerebral ventricle of rats, which resulted in a significant stimulation of pinocytosis in the endothelial cells. Systemic injections of mepyramine or metiamide could not prevent this activation. In contrast, raniti...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00686387
更新日期:1988-01-01 00:00:00
abstract::Several cases of progressive multifocal leukoencephalopathy (PML) have been associated with simian virus 40 (SV40), rather than with JC virus (JCV), the polyomavirus originally isolated from PML tissue. PML has, therefore, been defined as a demyelinating syndrome with possible multiple viral etiologies. Tissues from t...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050894
更新日期:1998-09-01 00:00:00
abstract::To assess whether amyloid plaque accumulation in the monkey brain can account for age-related cognitive impairment that begins at about 20 years of age, we measured plaque content in the brains of 14 rhesus monkeys aged 5-30 years. We used immunohistochemistry employing the monoclonal antibody 6E10, which is specific ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050735
更新日期:1997-11-01 00:00:00
abstract::The pattern of recovery of myelinated axons in the posterior tibial nerve after crushing was studied in rats chronically intoxicated with 2,5-hexanedione. It was given for 2 weeks before crushing (200 mg/kg i.p. 5 times a week) or additionally for two further weeks after the nerve crush. Two animals were examined from...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00703206
更新日期:1983-01-01 00:00:00
abstract::A 77-year-old man suffered intermittent hemiconvulsions of unknown etiology on the left side for a period of about 5 weeks. At the autopsy, there was marked neuronal loss, severe proliferation of astrocytes and spongiform changes in the right cerebral cortex. The cerebral white matter showed loosening with astroglial ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687782
更新日期:1988-01-01 00:00:00
abstract::Paired helical filaments (PHF) were isolated from autopsied brain of cases of Alzheimer dementia, and their polypeptides were identified with monoclonal antibodies to PHF by Western blots. The PHF polypeptide profile consisted of several bands with a size difference of less than 5 kilodalton (kDa) between adjacent ban...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690830
更新日期:1985-01-01 00:00:00
abstract::Oxidative stress has been implicated in the pathogenesis of a number of diseases including Alzheimer's disease (AD). The oxidative stress hypothesis of AD pathogenesis, in part, is based on beta-amyloid peptide (Abeta)-induced oxidative stress in both in vitro and in vivo studies. Oxidative modification of the protein...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s00401-009-0517-0
更新日期:2009-07-01 00:00:00
abstract::Nodding syndrome is an epidemic neurologic disorder of unknown cause that affects children in the subsistence-farming communities of East Africa. We report the neuropathologic findings in five fatal cases (13-18 years of age at death) of nodding syndrome from the Acholi people in northern Uganda. Neuropathologic exami...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-018-1909-9
更新日期:2018-11-01 00:00:00
abstract::Conventional genetic approaches and computational strategies have converged on immune-inflammatory pathways as key events in the pathogenesis of late onset sporadic Alzheimer's disease (LOAD). Mutations and/or differential expression of microglial specific receptors such as TREM2, CD33, and CR3 have been associated wi...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-017-1737-3
更新日期:2017-11-01 00:00:00
abstract::This report illustrates a case of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) masquerading as neurofibromatosis due to multifocal enlargements of spinal nerve roots. The patient initially complained of intermittent numbness of the hands and leg weakness at age 62. Nerve conduction velocities were ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0616-7
更新日期:2003-02-01 00:00:00
abstract::We studied a 27-year-old woman who died after a 6-year history of progressive dementia, dystonia, ataxia, apraxia, spasticity, choreoathetosis, visual and auditory hallucinations, and optic atrophy. Magnetic resonance imaging showed decreased intensity in the globus pallidus, substantia nigra, and dentate nuclei in T2...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010000224
更新日期:2000-11-01 00:00:00
abstract::Neuronal accumulation of oligomeric amyloid-beta (Alphabeta) is considered the proximal cause of neuronal demise in Alzheimer disease (AD) patients. Blood-borne macrophages might reduce Abeta stress to neurons by immigration into the brain and phagocytosis of Alphabeta. We tested migration and export across a blood-br...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-008-0481-0
更新日期:2009-02-01 00:00:00
abstract::Rats were given isoniazid either in a single large dose or continuously in drinking water and killed 5--105 days later. The distribution of degenerating fibres in various nerves (sensory and mixed) and in various sites along nerves and spinal roots was studied by light and electron microscopy. It was found that sensor...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691784
更新日期:1979-10-01 00:00:00
abstract::Laminin alpha2 (merosin)-deficient congenital muscular dystrophy (CMD) patients show progressive muscle fiber necrosis and ineffective muscle regeneration. This is probably due to decreased formation of multi nucleated myotubes resulting from a myoblast fusion defect. When receiving a mechanical signal from muscle mem...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-004-0884-5
更新日期:2004-09-01 00:00:00
abstract::In looking for a possible influence of nuclear inclusions (NIs) on neurodegeneration in human brains, we quantified morphological features of pontine neurons of three unrelated cases of neuronal intranuclear inclusion disease (NIID) and five control cases. Cross-sectional area of each neuronal nucleus and the indices ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0614-9
更新日期:2003-02-01 00:00:00
abstract::Cavernous malformations (CVMs) and arteriovenous malformations (AVMs) were immunostained for three smooth muscle cell (SMC)-specific protein markers (smooth muscle alpha-actin, SM1 and SM2). Smooth muscle alpha-actin, a widely used marker of SMCs, is reportedly one of the earliest proteins expressed during differentia...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010100362
更新日期:2001-09-01 00:00:00
abstract::The hemizygote of the macular mutant mice, which is clinically and neuropathologically considered to be a model of Menkes kinky hair disease (MKHD), were injected intraperitoneally four times with 10, 20, 20 and 30 micrograms of cupric chloride on days 4, 6, 8 and 10 after birth, respectively. Their cerebral and cereb...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00689595
更新日期:1988-01-01 00:00:00
abstract::We report two sporadic cases of tauopathy with unusual neuropathological features. The ages of the patients at death were 86 and 74 years, and the disease durations were 4 and 3 years, respectively. The former patient showed progressive dementia and amyotrophy (autopsy revealed that severe cervical spondylosis was res...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-006-0093-5
更新日期:2006-09-01 00:00:00
abstract::Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to selective motoneuron cell death is not fully understood yet. In t...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s00401-008-0411-1
更新日期:2008-09-01 00:00:00
abstract::Mineralization in the wall of central nervous system blood vessels is sporadically encountered in aged horses and cattle as in man, generally as an age-related change. This phenomenon has not to date been located in the meninges in dogs or cats. The present study reports a retrospective histological examination of 50 ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0641-6
更新日期:2003-03-01 00:00:00
abstract::This study tests the effects of chronic electrostimulation on denervated/reinnervated skeletal muscle in producing an optimal restoration of size and mechanical and histochemical properties. We compared tibialis anterior muscles in four groups of rats: in unoperated control (C) and 10 weeks following nerve lesion with...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-006-0035-2
更新日期:2006-06-01 00:00:00
abstract::Plaque-type deposition of prion protein (PrP) in the brain has been extremely rare in sporadic Creutzfeldt-Jakob disease patients with methionine homozygosity at polymorphic codon 129 of the PrP gene and type 1 abnormal isoform of PrP (sCJD-MM1). Here we report three sCJD-MM1 patients who showed prominent PrP-positive...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-008-0425-8
更新日期:2008-11-01 00:00:00
abstract::Primary cortical and hippocampal neuronal cultures submitted to brief histotoxic hypoxia suffer delayed neuronal death after 24 h [Uto et al. (1995) J Neurochem 64: 2185-2192]. In this study the ultrastructural changes were monitored during the first 6 h following 5-min histotoxic hypoxia induced by exposure to 100 mi...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050559
更新日期:1996-12-01 00:00:00
abstract::Neuropeptides have turned out to be promising new parameters, in addition to the routinely performed histochemical diagnosis, of Hirschsprung's disease (HD). Studies of the peptidergic innervation of the affected intestinal segment of patients with HD have demonstrated a marked reduction in the density of several neur...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0613-x
更新日期:2003-01-01 00:00:00
abstract::In G93A mice, the most popular model of amyotrophic lateral sclerosis (ALS), neuronal Lewy-body-like hyaline inclusions (LBHIs) and mitochondria-derived vacuoles are observed in addition to motor neuron loss. Although LBHIs are thought to be toxic, the significance of the mitochondria-derived vacuoles has not been ful...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-006-0056-x
更新日期:2006-07-01 00:00:00
abstract::Intracellular filamentous tau pathology is the defining feature of tauopathies, which form a subset of neurodegenerative diseases. We have analyzed pathological tau in Alzheimer's disease, and in frontotemporal lobar degeneration associated with tauopathy to include cases with Pick bodies, corticobasal degeneration, p...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-015-1503-3
更新日期:2016-02-01 00:00:00
abstract::Spinal cord of the rat was investigated immunohistochemically to detect signs of extravasation of fibronectin in animals in which the cord was subjected to different degrees of compression trauma. Immunohistochemistry was performed after survival periods of 4 and 24 h and parallel sections were incubated for albumin i...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00227738
更新日期:1992-01-01 00:00:00
abstract::We recently examined the brain from an 8-month-old infant with Down's syndrome and found argyrophilic plaque-like deposits throughout the neocortex and cerebellum. To ascertain the specificity of this observation, we examined 27 additional brains from the pediatric autopsy service, including 1 from another patient wit...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00294258
更新日期:1995-01-01 00:00:00