Abstract：
:Tuberous sclerosis (TS) is caused by point mutations in the TSC1 or TSC2 genes on chromosomes 9q33-34 or 16p13, respectively. Clinical manifestations can be quite variable but are primarily limited to cutaneous, neurologic, and cardiovascular abnormalities. Phenotypes range from neurologically devastated to those with silent lesions. A 34-year-old patient with genetically documented TSC1 developed progressive ataxia over a decade, without TS lesions to correlate with this finding. After evaluation of common causes including long-term antiepileptic regimens, DNA testing for hereditary ataxias was performed and revealed the presence of an additional mutation on chromosome 9. The patient was homozygous for the Friedreich ataxia (FA) mutation, with 500 and 700 GAA repeats in the FRDA gene on chromosome 9q13. There is no established relationship between these two disorders and the occurrence of two mutations on the same chromosome is probably coincidental but emphasizes the importance of searching for additional genetic causes when the phenotype does not fit with an established genetic diagnosis.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Walker M,Samii A,Bird Tdoi
10.1016/j.jns.2004.02.009subject
Has Abstractpub_date
2004-06-15 00:00:00pages
91-3issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022510X04000383journal_volume
221pub_type
杂志文章abstract：:The present single center, double-blind, delayed start study was conducted to examine possible symptomatic and disease-modifying effects of GM1 ganglioside in Parkinson's disease (PD). Seventy-seven subjects with PD were randomly assigned to receive GM1 for 120 weeks (early-start group) or placebo for 24 weeks followe...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.jns.2012.10.024
更新日期：2013-01-15 00:00:00
abstract：UNLABELLED:Riluzole is currently the only drug that holds any hope of prolonging life in amyotrophic lateral sclerosis (ALS) by slowing the rate of disease progression. METHODS AND RESULTS:Between 1995 and 1997 a total of 7916 ALS patients in 39 countries, were given 100 mg riluzole per day for a mean of 7.2 months. T...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章,多中心研究
doi：10.1016/s0022-510x(00)00426-3
更新日期：2000-11-01 00:00:00
abstract：:Demonstration of the direct involvement of cranial blood vessels by varicella zoster virus (VZV) is facilitated by immunohistochemistry (IHC), in situ hybridization (ISH) and polymerase chain reaction (PCR) techniques. The extent to which an inflammatory vasculitis serves as the pathogenic mechanism for VZV encephalom...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(98)00171-3
更新日期：1998-08-14 00:00:00
abstract：INTRODUCTION:Controversy persists on the best treatment to control ocular myasthenia gravis (OMG) and reduce conversion to generalized myasthenia gravis (GMG). We hypothesized that low dose prednisone could accomplish both in a cohort of OMG patients followed after three years. METHODS:We reviewed the records of 168 p...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117274
更新日期：2021-01-15 00:00:00
abstract：:We report two patients displaying hyperintensities on diffusion-weighted imaging (DWI) in the area of Wallerian degeneration (WD) at 12 days after stroke. High signal intensities were more conspicuous on DWI than on T2-weighted images. Both patients showed decreased diffusion anisotropy resulting in elevated apparent ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(00)00373-7
更新日期：2000-09-15 00:00:00
abstract：BACKGROUND AND PURPOSE:Pure midbrain stroke can cause isolated unilateral oculomotor paresis. We attempted to determine whether there is a difference in the oculomotor paresis pattern between pure midbrain infarction and midbrain hemorrhage. METHODS:Pure midbrain stroke patients who presented with isolated unilateral ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.03.012
更新日期：2015-04-15 00:00:00
abstract：:Two transgenic strains of mutant mice lacking hypoxanthine-guanidine phosphoribosyltransferase (HPRT) activity were examined behaviorally and neurochemically for phenotypic similarity to the human Lesch-Nyhan syndrome. In this syndrome, male children markedly deficient in the enzyme HPRT develop self-mutilation and se...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90099-8
更新日期：1988-09-01 00:00:00
abstract：:A number of diseases exhibit neurodegeneration with/without additional symptoms such as immunodeficiency, increased cancer risk, and microcephalus. Ataxia telangiectasia and Nijmegen breakage syndrome, for example, develop as a result of mutations in genes involved in the DNA damage response. However, such diseases ca...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.02.033
更新日期：2014-05-15 00:00:00
abstract：:The internodal length of remyelinated internodes was examined by observations on teased CNS nerve fibres following primary demyelination induced by intraspinal injections of lysolecithin into the white matter of cats. A remyelinated internode was identified as a thinly-myelinated internode, where a node of Ranvier was...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(81)90084-8
更新日期：1981-02-01 00:00:00
abstract：:Standardised skin biopsies followed by immunohistochemical examination for the presence of terminal nerve fibres reacting for neuropeptides substance P (SP) and calcitonin gene-related peptide (CGRP) were evaluated. Healthy subjects regularly displayed free nerve endings of both fibre types in the papillary and reticu...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90198-6
更新日期：1989-11-01 00:00:00
abstract：:beta,beta'-Iminodipropionitrile (IDPN) impairs axonal transport of neurofilaments; their accumulation leads to the formation of proximal swellings in motor axons. Similar proximal swellings are a feature of some cases of motor neuron disease such as amyotrophic lateral sclerosis (ALS). Motor units in IDPN-treated anim...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(92)90090-8
更新日期：1992-05-01 00:00:00
abstract：:The neuropathological findings in two siblings with Menkes' disease were compared with representative material obtained from lambs suffering from swayback (enzootic ataxia). The aim of the study was to demonstrate the similarity of lesions in a genetic and a nutritional form of copper deficiency in support of the view...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90192-2
更新日期：1983-12-01 00:00:00
abstract：:We followed two cohorts of Amyotrophic Lateral Sclerosis (ALS) patients to examine the survival and prognostic factors of ALS and the impact of selective referral on prognosis of ALS. The first cohort consisted of population-based incident ALS cases from Harris County, Texas, first diagnosed between 1985 and 1988. The...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(95)00154-t
更新日期：1995-10-01 00:00:00
abstract：:The in vivo diagnosis of Alzheimer's disease (AD) may be facilitated by cerebro-spinal fluid (CSF) biomarkers in combination with imaging and clinical assessments. By determining the concentration of beta amyloid fragments, total tau (t-tau) and phospho-tau (p-tau), it is possible to detect the conversion of mild cogn...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.02.343
更新日期：2009-08-15 00:00:00
abstract：BACKGROUND:Anosmia is common in Coronavirus disease 2019, but its impact on prognosis is unknown. We analysed whether anosmia predicts in-hospital mortality; and if patients with anosmia have a different clinical presentation, inflammatory response, or disease severity. METHODS:Retrospective cohort study including all...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117163
更新日期：2020-12-15 00:00:00
abstract：:The diagnostic value of analogue frequency analysis of EMG from patients with neuromuscular disorders has not been convincing. Using fast Fourier transformation it is today possible to obtain the EMG power spectrum on-line and with a better resolution. We examined the power spectrum of the EMG pattern of the brachial ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90237-2
更新日期：1989-12-01 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：: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：: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：:Encephalitogenic activity of myelin basic protein (MBP) isolated in a form retaining binding to all myelin lipids was tested in Lewis rats. Immunization with this new stable lipid-bound and native-like preparation (LB-MBP), induced experimental autoimmune encephalomyelitis (EAE) as intensively as the classical lipid f...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90196-6
更新日期：1993-10-01 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2010.10.016
更新日期：2011-02-15 00:00:00
abstract：:We report the case of a 68-year-old man who presented with ataxia, insomnia, rapidly developing cognitive decline, seizures and small vessel vasculitis. Both serum and cerebro-spinal fluid samples showed positive titre of anti-CASPR2 antibodies. Limbic encephalitis was diagnosed and immunomodulatory therapy was starte...
journal_title：Journal of the neurological sciences
pub_type： 信件
doi：10.1016/j.jns.2020.116865
更新日期：2020-06-15 00:00:00
abstract：:Complement-dependent gliotoxic antibody activity was determined in 22 patients with multiple sclerosis (MS) and 19 normal control persons. Peripheral blood serum was collected from MS patients at about 4-week intervals for one year, and the results of cytotoxicity tests correlated with the course of disease. For 10 MS...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(79)90096-0
更新日期：1979-05-01 00:00:00
abstract：:Two siblings are presented with late onset, rapidly progressive truncal ataxia, paralysis of down-gaze and loss of up-gaze saccades in association with other oculomotor dysfunctions as well as dementia. Electron microscopic muscle studies revealed abnormal distribution and form of the mitochondria, probably being the ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90202-5
更新日期：1989-11-01 00:00:00
abstract：:Impairment of nervous function and thiamine metabolism were studied in 40 patients suffering from pernicious anaemia, 20 of whom had not been treated and the other 20 were on hydroxocobalamin therapy. Of the untreated patients 13 (65%) showed signs of peripheral nerve dysfunction with reduced conduction velocities, as...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(80)90180-x
更新日期：1980-03-01 00:00:00
abstract：:It has been suggested that amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder resulting in motor neuron death, is associated with oxidative damage induced by free radicals. Our study aimed to get an assessment of the blood oxidative stress status in a population of 167 ALS patients (aged 59+/-13 years),...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/s0022-510x(00)00365-8
更新日期：2000-09-01 00:00:00
abstract：BACKGROUND:Microglial activation is thought to be a key pathophysiological mechanism underlying disease activity in all forms of MS. Hydroxychloroquine (HCQ) is an antimalarial drug with immunomodulatory properties that is widely used in the treatment of rheumatological diseases. In this series of experiments, we explo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.08.1525
更新日期：2015-11-15 00:00:00
abstract：:The purpose was to assess otologic symptoms, and audiologic and vestibular findings in fibromyalgia (FM) syndrome. Twenty-four female patients with FM syndrome (FMS) were included in the study. The assessments were based on history, physical examination, audiometry, bithermal caloric testing and auditory brainstem res...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00032-1
更新日期：2002-04-15 00:00:00
abstract：:In order to develop a greater understanding of the importance of peptide catabolism in the intracellular protein degradation process in normal and pathological human brain, we have undertaken a systematic investigation of the aminopeptidase group of enzymes. Although a wide range of aminoacyl-7-amino-4-methylcoumarin ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90024-5
更新日期：1989-02-01 00:00:00
abstract：:Low fluidity was observed in the erythrocyte membranes of familial chorea-acanthocytosis by spin labeling with 12NS. The high content of the saturated fatty acids support the finding of low fluidity. Other lipid contents (cholesterol and phospholipids) and the cholesterol/phospholipid ratio were within normal ranges. ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(85)90096-6
更新日期：1985-05-01 00:00:00
