Abstract：
:We report the clinical features, electrophysiological findings and genetic characteristics of the first two Taiwanese siblings ever reported with sialidosis type I. We also provide a 10-year follow-up result. Enzymological analysis revealed a primary sialidase deficit. The back-averaged electroencephalography demonstrated myoclonic jerk-related cortical activities and the somatosensory evoked potential studies revealed giant cortical components. During the 10-year follow-up, the brain magnetic resonance images of the younger brother remained normal, whereas they showed mild cerebellar atrophy in the older sister. Macular cherry red spots were absent in both siblings. However, visual evoked potential revealed progressively prolonged latencies of P100 bilaterally, which was consistent with progressive deterioration of the siblings' visions. DNA analysis showed that the siblings had a homozygous missense point mutation c.544A-->G (Ser182Gly) in the exon 3 of the alpha-N-acetyl-neuraminidase (NEU1) gene. The mutation is predicted to cause a decreased sialidase activity but the mutant sialidase can still be targeted to the lysosomes, which may correlate with the mild clinical phenotypes and absent cherry red spots in the siblings.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Chen CM,Lai SC,Chen IC,Hsu KC,Lyu RK,Ro LS,Chang HSdoi
10.1016/j.jns.2006.03.013subject
Has Abstractpub_date
2006-08-15 00:00:00pages
65-9issue
1eissn
0022-510Xissn
1878-5883pii
S0022-510X(06)00133-Xjournal_volume
247pub_type
杂志文章abstract：:The occurrence of neuropathy in 5 cases of inclusion body myositis (IBM) was studied. The intramuscular nerve branches showed variable ultrastructural changes in all cases. The observed changes were loss of axons, wallerian degeneration and axon terminal atrophy. EMG with concentric needles showed myopathic motor unit...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90167-l
更新日期：1990-11-01 00:00:00
abstract：:The production of interleukin-2 (IL-2) and interleukin-6 (IL-6) by peripheral blood mononuclear cells (MNC) was assessed in patients with Alzheimer's disease (AD) who were subdivided into two groups--mild and moderately-severe--according to the severity of the disease, probable vascular dementia (VaD) patients and eld...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/0022-510x(95)00016-u
更新日期：1995-06-01 00:00:00
abstract：:Neurodegenerative disorders are marked by extensive neuronal apoptosis and gliosis. Although several apoptosis-inducing agents have been described, understanding of the regulatory mechanisms underlying modes of cell death is incomplete. A major breakthrough in delineation of the mechanism of cell death came from eluci...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2008.12.010
更新日期：2009-03-15 00:00:00
abstract：:Demonstration of lesion dissemination in space (DIS) and time (DIT) is necessary for the diagnosis of multiple sclerosis (MS) in clinically isolated syndromes (CIS). The McDonald criteria accepted two methods to demonstrate DIS. The fulfillment of at least three of four MRI Barkhof criteria (MRI-BC) or, alternatively,...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.08.030
更新日期：2008-03-15 00:00:00
abstract：:Mast cells (MC) have been implicated in the pathogenesis of experimental allergic encephalomyelitis (EAE). In order to further evaluate their role, several morphological and functional studies were performed. Semiquantitative counts of histological sections showed a significant reduction in MC numbers in EAE brains. I...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90300-x
更新日期：1994-04-01 00:00:00
abstract：:Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating disorder of the central nervous system characterized by nystagmus, motor developmental delay, ataxia, and progressive spasticity. The gap junction protein gamma-2 gene (GJC2), encoding the gap junction protein connexin 47, is one of the...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.04.017
更新日期：2013-07-15 00:00:00
abstract：OBJECTIVE:To assess the temporal and spatial variation in length of hospital stay for cerebrovascular disease in the United States over three decades. DESIGN:Age-, region-, and stroke type-specific length-of-hospital-stay data for nearly 4 million patients admitted with cerebrovascular disease were obtained for the Pr...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90075-2
更新日期：1994-12-20 00:00:00
abstract：:In 50 patients with computed tomography-verified small, deep, lacunar, infarcts from a prospective stroke registry, we studied the lesion site in relationship with the clinical syndromes pure motor stroke, sensorimotor stroke and ataxic hemiparesis. Seventy per cent (95% confidence interval: 57-83%) of the lesions wer...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90138-w
更新日期：1991-10-01 00:00:00
abstract：OBJECT:We aimed to investigate the link between the autonomic nervous system (ANS) impairment, assessed using baroreflex sensitivity (BRS) and heart rate variability (HRV) indices, and mortality after aneurysmal subarachnoid haemorrhage (aSAH). METHODS:A total of 57 patients (56 ± 18 years) diagnosed with aSAH were re...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.09.014
更新日期：2018-11-15 00:00:00
abstract：:Fingolimod is the first oral disease-modifying therapy approved for relapsing forms of multiple sclerosis (MS). Following phosphorylation in vivo, the active agent, fingolimod phosphate (fingolimod-P), acts as a sphingosine 1-phosphate (S1P) receptor modulator, binding with high affinity to four of the five known S1P ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2013.02.011
更新日期：2013-05-15 00:00:00
abstract：:The pathogenic mechanism underlying the vascular changes in Binswanger's encephalopathy (BE) is unknown. To test whether alterations of the humoral immunity may lead to endothelium damage, we analyzed serum levels of anti-brain endothelium antibodies (ABEA) (IgG and IgM) in 16 BE patients, 19 subjects with ischemic va...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/0022-510x(94)00215-a
更新日期：1995-01-01 00:00:00
abstract：:Sera from 40 patients with idiopathic Parkinson's disease and their age- and sex-matched controls were assayed for immunoglobulin G (IgG) antibodies against herpes simplex virus (HSV) type 1-induced cell surface antigens with the indirect immunofluorescent test. An increased level of HSV antibodies was found among the...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(78)90017-5
更新日期：1978-02-01 00:00:00
abstract：:A 40-year-old female suffering from recurrent migrainous strokes is reported. She did not show any muscle weakness or wasting. Ragged red and cytochrome c oxidase negative fibers were present in the muscle biopsy. Muscle mitochondrial DNA analysis showed a 5 kb deletion, without a point mutation at nucleotide pair 324...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90308-t
更新日期：1991-08-01 00:00:00
abstract：:The analysis of the firing intervals of motor units has been suggested as a diagnostic tool in patients with neuromuscular disorders. Part of the increase in number of turns seen in patients with myopathy could be secondary to the decrease in motor unit firing intervals at threshold force of the motor units, as noted ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90077-3
更新日期：1987-03-01 00:00:00
abstract：:Ophthalmological examination and visual evoked responses (VERs) were repeated at 6-120 (mean 46) months after the first attack of acute optic neuritis in 80 patients who had abnormal VERs in 98 symptomatic eyes at the initial examination. The wide field VER returned to within the normal range in 19/98 (19%) symptomati...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90075-4
更新日期：1986-10-01 00:00:00
abstract：:Frontal gaits (FG) and parkinsonian gaits (PG) are common neurological gait abnormalities in older adults. It may be difficult to distinguish these gaits as they share common clinical characteristics such as unsteadiness, slowing, and shuffling. Of 488 community-residing subjects in an aging study, 11 were diagnosed w...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.05.035
更新日期：2006-10-25 00:00:00
abstract：:With an Italian case series of 81 Italian patients and 130 controls, we analysed associations between myasthenia gravis (MG) and genetic polymorphisms in the MHC class II/III region. Increases in the frequency of the TNF-B*1, C4A*Q0, C4B*1, DRB1*03 supratype, which is likely part of the 8.1 ancestral haplotype, were m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00573-1
更新日期：2001-09-15 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：:Intracerebral inoculation of mice with the MS strain of type 2 herpes simplex virus (HSV-2) causes a brief encephalitis associated with multifocal central nervous system demyelination. Many of the mice develop unilateral or bilateral impairment of the pupillary light reflex. We have examined the development of ocular ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90217-m
更新日期：1993-04-01 00:00:00
abstract：:The study's objectives were to assess the predictive significance of different sets of demographic, clinical and extraclinical variables in identifying multiple sclerosis patients with various risk levels of worsening during the follow-up, in order to provide clues to inclusion criteria and selection of primary clinic...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00143-4
更新日期：1999-10-15 00:00:00
abstract：:Unilateral retrobulbar optic neuritis developed in a 43-year-old man with acquired immune deficiency syndrome (AIDS). This was secondary to varicella zoster virus (VZV) as confirmed by cerebrospinal fluid (CSF) polymerase chain reaction (PCR) detection of VZV in the cerebrospinal fluid. There was no typical cutaneous ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2005.05.005
更新日期：2005-10-15 00:00:00
abstract：OBJECTIVES:To compare the clinical course and muscle biopsy features of polymyositis with mitochondrial pathology (PM-Mito) to inclusion body myositis (IBM) and steroid-responsive inflammatory myopathies (polymyositis). METHODS:We compared clinical, laboratory and myopathologic features in a retrospective study of pat...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.11.010
更新日期：2009-03-15 00:00:00
abstract：:An endogenous factor that is able to reduce the fast transient sodium current of excitable cells has been reported to exist in the cerebrospinal fluid (CSF) of multiple sclerosis (MS) patients. This was confirmed with nine clinically definite MS patients in the acute relapse. In order to purify and chemically identify...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00285-3
更新日期：2000-01-01 00:00:00
abstract：:An improved method for identification of CSF and serum proteins is described, using analytical isoelectric focusing followed by direct immunofixation in polyacrylamide gel. This method offers high sensitivity together with retained resolution after isoelectric focusing and is technically easy to perform. The gamma-tra...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(79)90059-5
更新日期：1979-07-01 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：:We show here that the major glycolipid in myelin, galactocerebroside, is not only a useful marker for isolated bovine oligodendrocytes but that its quantitation can serve as a probe for cell differentiation. We have produced in the rabbit antisera to bovine oligodendroglia, bovine myelin and galactocerebroside. The bi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(80)90032-5
更新日期：1980-07-01 00:00:00
abstract：:Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder of muscle in children. The DMD gene product, "dystrophin", is absent from DMD, while the allelic disease, Becker muscular dystrophy (BMD), exhibits dystrophin of abnormal size and/or quantity. But we are still uncertain about the scenario that in...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90039-a
更新日期：1991-02-01 00:00:00
abstract：:We assayed IL-6 in 105 cerebrospinal fluid (CSF) samples from patients with ALS, MS, HTLV-1 associated myelopathy (HAM), and controls. There was considerable overlap in IL-6 levels in all patient groups. The mean IL-6 in 27 patients with ALS was significantly higher than in 21 patients in the other neurological diseas...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/s0022-510x(97)00228-1
更新日期：1998-02-05 00:00:00
abstract：:In view of the hypothesis that a biochemical abnormality in the childhood forms of neuronal ceroid-lipofuscinosis may lie in the utilization of dolichols in glycoprotein synthesis, we analyzed the oligosaccharide structures of brain glycoproteins in infantile neuronal ceroid-lipofuscinosis (INCL). Lectin affinity chro...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90030-4
更新日期：1986-01-01 00:00:00
abstract：BACKGROUND:Both intra-arterial recombinant tissue plasminogen activator (rt-PA) and stent retrieval are effective for treating acute ischemic stroke. The goal of this study was to evaluate the effectiveness of stent retrieval combined with intra-arterial rt-PA administration via micro-catheter (called the complex techn...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.01.012
更新日期：2018-03-15 00:00:00
