Abstract：
:Morphologic alterations in biopsies of central and peripheral nervous tissue were investigated at the light-and electron-microscopic level in the first cases of lysosomal alpha-N-acetylgalactosaminidase deficiency. Widespread spheroid formation was observed in terminal and preterminal axons. Neocortical and peripheral autonomic axons contained tubulovesicular and lamelliform membranous arrays, prominent acicular clefts, and electron-dense axoplasmic matrix, the typical ultrastructural abnormalities corresponding to axonal spheroids in many inherited and acquired axonopathies. Central and peripheral membranous distal axonal spheroids were the only neuropathologic abnormality identified; other alterations resembling those in various neuronopathic lysosomal storage diseases were not observed. The morphologic findings and the distribution of the lesion in the present disorder are remarkably similar to those reported in the inherited infantile form of neuroaxonal dystrophy with normal alpha-N-acetylgalactosaminidase activity (Seitelberger disease).
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Wolfe DE,Schindler D,Desnick RJdoi
10.1016/0022-510x(95)00124-ksubject
Has Abstractpub_date
1995-09-01 00:00:00pages
44-56issue
1eissn
0022-510Xissn
1878-5883pii
0022-510X(95)00124-Kjournal_volume
132pub_type
杂志文章abstract：:Since Alzheimer's disease (AD) is becoming the prevalent dementia in the whole world, more underlying mechanisms are emerging. Long time has the transcription factor NF-κB been identified to participate in AD pathogenesis, various studies have focused on the causes and effects of AD that are linked to NF-κB. In this r...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2016.05.022
更新日期：2016-07-15 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：:Ten patients with myotonic dystrophy (MyD) and excessive daytime sleepiness (EDS) were studied. Daytime sleepiness was assessed by means of a subjective alertness rating scale, multiple sleep latency tests and auditory event-related potentials. In addition, the diurnal pattern of daytime sleepiness and ultradian rhyth...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90051-y
更新日期：1993-01-01 00:00:00
abstract：:Muscle biopsies were obtained from the vastus lateralis of 14 male subjects: 3 long distance runners, 2 world class power lifters and 9 active, although not highly trained, individuals used as controls. The fibers were investigated by electron microscopy and the mitochondrial volume percent, lipid volume percent and Z...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(81)90076-9
更新日期：1981-02-01 00:00:00
abstract：:The prevalence and pattern of cognitive impairment in systemic lupus erythematosus (SLE) patients with (NPSLE) and without (nSLE) overt neuropsychiatric manifestations were investigated. Fifty-two nSLE patients, 23 NPSLE patients and 27 healthy controls were evaluated with a battery of standardized neuropsychological ...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/s0022-510x(00)00492-5
更新日期：2001-02-15 00:00:00
abstract：:Polyglutamine (poly-Q) diseases are late-onset neurodegenerative disorders arising from the expansion of an unstable CAG repeat in the affected gene, which is translated to a tract of glutamine residues. This kind of mutant proteins may be aggregated and accumulated, and thereby enhance cellular oxidative stress. In o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.07.016
更新日期：2008-01-15 00:00:00
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 cla...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(96)00112-8
更新日期：1996-09-01 00:00:00
abstract：:The author describe 2 personal observations of peripheral neuropathy with cryoglobulinemia and the 28 cases previously recorded are reviewed. The characteristics of the usually sensorimotor neuropathy are not specific. Nevertheless, the association with purpura, Raynaud's syndrome and leg ulcers and the inconstant agg...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(78)90005-9
更新日期：1978-02-01 00:00:00
abstract：:An experimental autoimmune myositis (EAM) was produced by immunizing SJL/J mice with the myosin B (MB) fraction of the syngeneic muscle. Immunoblot analysis of the IgG of the EAM mice demonstrated antibodies against a variety of muscle proteins. The condition was then transferred to normal mice by both injecting immun...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)00223-7
更新日期：1996-12-01 00:00:00
abstract：:We report three related patients with autosomal dominant hereditary motor and sensory neuropathy (HMSN). An unusual and characteristic feature was calf enlargement, caused by muscle fiber hypertrophy predominantly of type 1 fibers. None of the family members showed atrophy of the legs. Sural nerve pathology disclosed ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(92)90274-o
更新日期：1992-11-01 00:00:00
abstract：:Brain myelin was studied in genetically obese (ob/ob) mice and compared with that of normal (+/+) mice from the same strain. The brain from obese mice had a significantly lower amount of myelin, and marked changes in the fatty acid composition of myelin were observed. In contrast, the myelin cholesterol: phospholipid:...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(85)90104-2
更新日期：1985-05-01 00:00:00
abstract：:We describe detailed clinical, biochemical, neuroimaging and neuropathological features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), linked to col...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.12.021
更新日期：2015-02-15 00:00:00
abstract：:The muscle provocation test (MPT: 40 min of strenuous exercise on a bicycle ergometer) is a sensitive method for the detection of carriers of Duchenne muscular dystrophy. The diagnostic applicability of MPT for carrier detection in X-linked Becker muscular dystrophy is demonstrated. Obligate carriers with mean creatin...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90194-6
更新日期：1983-12-01 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：: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：: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：:Abnormal function of apolipoprotein E (apoE) has been implicated in the incidence of some neurological disorders including dementia. Our recent experiments have shown that apoE deficiency alters the dynamics of alpha tocopherol (vitamin E) handling by brain. In the current investigation, we examined the uptake and ret...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.02.350
更新日期：2009-08-15 00:00:00
abstract：:Swallowing function in myasthenia gravis (MG) was investigated by videofluoroscopy (VF). A total of 23 VF examinations were performed on 11 MG patients at various time points over the exacerbation and remission stages of disease. The assessment parameters on VF examination are set as follows: bolus transport from the ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2004.12.007
更新日期：2005-04-15 00:00:00
abstract：:A monoclonal antibody (ML30), previously shown to identify a human mitochondrial protein epitope homologous with the groEL heat-shock protein of bacteria (hsp60), was used in an immunohistochemical survey of the central nervous system in patients dying with no evidence of neurological disease and in tissue from patien...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90111-b
更新日期：1993-09-01 00:00:00
abstract：OBJECT:The purpose of this study was to determine the effects of diazoxide on apoptosis and the relative mechanisms in a model of brain injury induced by cerebral ischemia/reperfusion (I/R) during deep hypothermia. METHODS:Three-week-old Sprague-Dawley male rats were randomly and equitably divided into sham-operated g...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.10.029
更新日期：2008-05-15 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：BACKGROUND:Cladribine causes sustained reduction in peripheral T and B cell populations while sparing other immune cells. We determined two populations of dendritic cells (DCs): namely CD1c(+)/CD19(-) (myeloid DCs) and CD303(+)/CD123(+) (plasmacytoid DCs), CD19(+) B lymphocytes, CD3(+) T lymphocytes and CD4(+) or CD8(+...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.06.003
更新日期：2013-09-15 00:00:00
abstract：:We describe a patient with progressive aphemia with agrammatism that was later overlaid with buccofacial apraxia and pseudobulbar palsy. Pathological findings were consistent with those of classic Pick's disease with argyrophilic inclusions and neuronal achromasia, except for restricted cortical atrophy in the frontal...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(98)00159-2
更新日期：1998-08-14 00:00:00
abstract：:There have been recent developments in the pathology of sporadic ALS. A new filamentous neuronal inclusion body in ALS detected by immunohistochemical localisation of the protein ubiquitin has been characterised at the light microscopic and ultrastructural level and appears specific for the disease. The molecular comp...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/0022-510x(94)90175-9
更新日期：1994-07-01 00:00:00
abstract：:We investigated possible neurotoxic components in the cerebrospinal fluid (CSF) of patients with bacterial meningitis. On murine cerebellar neuronal cell cultures, CSF exerted a dose-dependent toxic effect, which was attenuated by the NMDA receptor antagonist MK-801. Glutamate concentrations in the CSF of patients wit...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)00197-9
更新日期：1996-11-01 00:00:00
abstract：:Antibodies against myelin oligodendrocyte glycoprotein (MOG) mediate demyelination in experimental autoimmune encephalomyelitis (EAE) in different animal species and are implicated in the immunopathogenesis of multiple sclerosis (MS). In order to evaluate the anti-MOG response, we have analyzed the cerebrospinal fluid...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(03)00066-2
更新日期：2003-07-15 00:00:00
abstract：:Dementia of the Alzheimer type (DAT) and vascular dementia (VaD) are the two major subtypes of dementia. In our epidemiological study of DAT in an Arab community in Wadi Ara, Israel, we found a high prevalence of late onset DAT. Illiteracy, smoking, diabetes mellitus (DM) and hypertension are very frequent in Wadi Ara...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00269-1
更新日期：2002-11-15 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
abstract：BACKGROUND:Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task due to great clinical and genetic heterogeneity. We aimed to characterize clinical and molecular findings of HSP families from Rio Grande do Sul, Brazil; and to evaluate the diagnostic yield of a next-generation sequencing (NGS) ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.10.010
更新日期：2017-12-15 00:00:00
abstract：BACKGROUND:Clinical data across the globe especially in genetic diseases like Huntington's disease (HD) is most helpful when collected using standardized formats. This helps in proper comparison of clinical and genetic data. METHODS:Herein, we report clinical data on 26 genetically confirmed HD patients from 19 Indian...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00593-7
更新日期：2001-09-15 00:00:00
