Abstract：
BACKGROUND:Allelic heterogeneity and phenotype variability-especially in age at onset, penetrance and progression-are reported in ALS1 families. For this reason, SOD1 gene mutation data in ALS1 patients are currently being gathered to better understand the genotype-phenotype relationship in this disorder. Here, we report the clinical and molecular characteristics of a Spanish ALS1 family with incomplete penetrance. PATIENTS AND METHODS:Clinical data including age at onset, initial topography, progression and survival were available in three affected members. Erythrocyte SOD1 activity was measured in four individuals. Analysis of the SOD1 gene was performed by PCR and direct sequencing. RESULTS:A novel missense mutation in the exon 5 of the SOD1 gene, an A-to-C transversion at nucleotide position 1485 leading to N139H residue change, was identified in three family members. The phenotype was similar in all cases, with initial symptoms in the distal limb muscles and a mean survival time of around 4 years. Incomplete penetrance was observed in our family, as two obligate carriers did not develop any symptoms of amyotrophic lateral sclerosis (ALS). CONCLUSIONS:N139H is the fifth SOD1 gene mutation reported in Spain, and the first one presenting with incomplete penetrance. Genetic counseling for at-risk relatives in these low-penetrance families could be difficult as some individuals harbouring the mutation remain asymptomatic throughout their lives. Further genetic characterisation of ALS1 families should provide information regarding the distribution of SOD1 mutants in different ethnic groups.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Nogales-Gadea G,Garcia-Arumi E,Andreu AL,Cervera C,Gamez Jdoi
10.1016/j.jns.2003.10.018subject
Has Abstractpub_date
2004-04-15 00:00:00pages
1-6issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022510X03003319journal_volume
219pub_type
杂志文章abstract：:The retrovirus that causes the acquired immunodeficiency syndrome (AIDS) has two targets: the immune system and the nervous system. Central nervous system (CNS) manifestations of AIDS are protean. This review describes the opportunistic infections and malignancies that affect the nervous system in AIDS, and discusses ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/0022-510x(89)90013-0
更新日期：1989-02-01 00:00:00
abstract：:Peripheral blood lymphocytes from patients with multiple sclerosis (MS), other neurological diseases and healthy controls were investigated for the presence of cell-mediated hypersensitivity to brain gangliosides and myelin basic protein using an active E-rosette assay. Sensitivity to myelin basic protein and ganglios...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90083-7
更新日期：1983-04-01 00:00:00
abstract：:The aim of the present study was to investigate the involvement of frontal lobe dysfunction in amyotrophic lateral sclerosis (ALS) using ocular motor paradigms and neuropsychological testing. Fifty-one patients with ALS participated in the following ocular motor tasks: (1) a three-choice task and (2) a remembered sacc...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00683-9
更新日期：2002-03-15 00:00:00
abstract：:Nitrous oxide is routinely administered to children and adults with Charcot-Marie-Tooth disease (CMT) as an anaesthetic for procedures such as nerve conduction studies and maintenance for general anaesthesia. However it is listed as a 'moderate to significant' risk of potential toxicity and worsening neuropathy in peo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.12.004
更新日期：2008-05-15 00:00:00
abstract：METHODS:The nine hole peg test (9HPT) is an emerging outcome measure in clinical trials in multiple sclerosis (MS). In this study we investigated how performance on the 9HPT at baseline is related to annualized direct MS related cost. METHODS:We enrolled patients with a definite diagnosis of MS from two Canadian MS ce...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2014.03.047
更新日期：2014-06-15 00:00:00
abstract：:We review post-infectious and post-vaccination neurological syndromes involving peripheral and central nervous system (CNS) and report an illustrative case of simultaneous occurrence of Guillain-Barré syndrome (GBS), confirmed by nerve conduction velocities, plus MRI-demonstrated transverse myelitis (TM) and acute enc...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2018.09.028
更新日期：2018-12-15 00:00:00
abstract：BACKGROUND:Data on recent stroke trends in the context of rapidly deteriorating risk profile of populations within Africa is very limited. We investigated the admission trend for stroke and related outcomes in a major referral hospital in Cameroon. METHODS:Admission and discharge registries, and patient files for the ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.02.002
更新日期：2015-03-15 00:00:00
abstract：:Tartarian Buckwheat is an effective hypoglycemic medicinal herb. Its main active ingredients are flavonoids. We report here 5 cases of new onset polyneuropathy with dyskinesia prospectively induced by tartarian buckwheat products. Clinical and electrophysiological evidence along with laboratory tests were reviewed and...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.09.037
更新日期：2014-12-15 00:00:00
abstract：:This is a case report of PCR proven herpes simplex (HSV-1) encephalitis in a 26 years old immunocompetent adult taking an unusual course of acute intracerebral haematoma after successful and complete recovery with acyclovir therapy. This transient late complication was associated with a negative repeat CSF PCR for HSV...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2006.10.020
更新日期：2007-01-31 00:00:00
abstract：:Lewis-Sumner syndrome (LSS) is considered a variant of chronic inflammatory demyelinating polyneuropathy (CIDP), which is more frequently described with exclusive upper limb involvement. The diagnosis of LSS is clinical and electrophysiological. However, these are not always obvious and in view of its rarity, the diag...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.04.033
更新日期：2014-07-15 00:00:00
abstract：:Electron-microscopic X-ray microanalysis has been used to compare elemental concentrations in specific organelles in normal and diseased human muscle. An elevated calcium to phosphorus ratio has been found in both myonuclei and interstitial cell nuclei in diseased muscle compared with controls. Preliminary observation...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(77)90129-0
更新日期：1977-09-01 00:00:00
abstract：:In order to produce a model of ischemic neuropathy with neural microvascular alterations, sodium laurate was injected into a femoral artery and saline into the contralateral artery at the mid-thigh level in Sprague-Dawley rats aged 11 weeks. In view of the dose-related findings, 0.3 mg sodium laurate dissolved in 0.1 ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90026-u
更新日期：1993-12-01 00:00:00
abstract：:In a prospective study, we analysed the presence of monoclonal immunoglobulin (moIg) in the serum from 30 patients with amyotrophic lateral sclerosis (ALS) and 30 matched controls using a sensitive Western blot technique. The incidence of serum moIg was 60% in the ALS group and 13.3% in the control group. Most ALS ser...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90220-2
更新日期：1991-07-01 00:00:00
abstract：:Shapiro syndrome is a rare entity, comprising a triad of recurrent hypothermia, hyperhidrosis and congenital agenesis of the corpus callosum. Fewer than 50 cases have been described, almost invariably in patients presenting in childhood or early adulthood. We present a case of an 80 year old woman presenting with recu...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.03.014
更新日期：2013-06-15 00:00:00
abstract：:Neuropathy has been frequently reported in patients with IgG monoclonal gammopathy of undetermined significance (MGUS) but it is still unclear whether this association has clinical or pathogenetic relevance. In order to clarify the possible role of IgG MGUS in the neuropathy we correlated the clinical and electrophysi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00049-0
更新日期：1999-03-15 00:00:00
abstract：:Clinical data are presented of 63 artificially ventilated Guillain-Barré patients. About half of them had an antecedent event. In 57% the disease was heralded by sensory symptoms. The mean progressive phase lasted 12 days, the plateau 12 days and the recovery phase 568 days. In all patients one or more cranial nerves ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90303-o
更新日期：1991-08-01 00:00:00
abstract：BACKGROUND:In Alzheimer's disease, higher educational attainment is associated with fewer cognitive deficits despite similar pathological lesions. In animal models of Parkinson's disease (PD), enhanced levels of cognitive and physical stimulation can reduce motor deficits due to dopaminergic neuronal loss. Therefore, i...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.01.030
更新日期：2016-03-15 00:00:00
abstract：:We studied the clinical features of 47 patients with a non-hereditary degenerative disease and with atrophy of brainstem or cerebellum or both in CT scanning. There was no relation between the CT findings and duration or severity of the disease, nor with the kind of the neurological signs which comprised ataxia, a hyp...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90073-v
更新日期：1990-03-01 00:00:00
abstract：:Amyotrophic Lateral Sclerosis (ALS) occurs more commonly in men than in women, and women get the disease later in life compared to men. This epidemiologic aspect of the disease raises the question as to whether estrogen may be neuroprotective in delaying or preventing ALS. Postmenopausal women with ALS were separated ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00234-8
更新日期：1999-10-31 00:00:00
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
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(95)00295-d
更新日期：1996-03-01 00:00:00
abstract：OBJECTIVE:Physical fitness is an important correlate of structural and functional integrity of the brain in healthy adults. In heart failure (HF) patients, poor physical fitness may contribute to cognitive dysfunction and we examined the unique contribution of physical fitness to brain structural integrity among patien...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.02.015
更新日期：2013-05-15 00:00:00
abstract：BACKGROUND:The treatment of hypertension is an essential component of stroke prevention; however, the clinical management of patients with cerebrovascular disease is complicated by orthostatic hypotension (OH). The primary objectives were to: determine the prevalence of OH in a stroke outpatient clinic; describe catego...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.10.031
更新日期：2012-03-15 00:00:00
abstract：:Dietary supplements containing Ephedra used for weight loss and physical performance enhancement such as "herbal ecstasy" are widely available, and it is estimated that at least 1% of the adult population have taken these products. Ephedra products including Ephedra alkaloids such as phenylpropanolamine or other ephed...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2003.08.012
更新日期：2004-01-15 00:00:00
abstract：BACKGROUND:To evaluate the presence of ischemic and hemorrhagic lesions in brain MRI of patients with Fabry disease (FD). METHODS:Brain MRI studies in 46 consecutive patients were evaluated using classic sequences as well as GRE-weighted images, for ischemic lesions and chronic microbleed detection. Of the 36 adult pa...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.03.020
更新日期：2011-06-15 00:00:00
abstract：:The purpose of the investigation was to elucidate the repeatedly discussed relationship between chronic lead intoxication and ALS. The following mean lead concentrations were determined in 9 patients with ALS: 8.65 +/- 3,91 micrograms/100 ml in the blood, 0.97 +/- 0.78 microgram/100 ml in the plasma, 19.15 +/- 5.0 mic...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90051-5
更新日期：1983-09-01 00:00:00
abstract：BACKGROUND:Neurovascular Coupling is the cerebral mechanism responsible for linking neuronal activity, cerebral metabolism and regional cerebral blood flow (CBF). The direct relation between functional brain activity during active, passive and motor imagery paradigms and changes in CBF has been widely investigated usin...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.116427
更新日期：2019-10-15 00:00:00
abstract：:The effects of the specific dopaminergic neurotoxin, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), were studied on the kinetics of [3H]mazindol binding to striatal membranes of C57 black mice. This radioligand was used to label dopamine uptake sites and when administered in vivo, MPTP caused an irreversible, no...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90195-4
更新日期：1986-06-01 00:00:00
abstract：:Genetic Creutzfeldt-Jakob disease (gCJD) is caused by a range of mutations in the prion protein gene (PRNP). We describe the first Italian case of gCJD associated with the rare PRNP E196K mutation. The disease showed an atypical presentation featuring dementia without motor signs in a 75-year-old woman. The case lacke...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.06.036
更新日期：2008-12-15 00:00:00
abstract：:This study describes the electrophysiological responses of endoneurial preparations derived from rat sciatic nerve to acute hypoxia in vitro. Preparations from control rats exhibited a 40% decline in compound action potential (CAP) amplitude after 40 min exposure to medium gassed with 8% O2. In preparations from 4 wee...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(92)90100-y
更新日期：1992-05-01 00:00:00
