Abstract:
:The authors describe an unusual case of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without leg spasticity, which is a core clinical feature of ARSACS. This is the second family with a spasticity-lacking phenotype in ARSACS. A peripheral nerve conduction study disclosed decreases in motor and sensory nerve conduction velocities with the disease progression. Although the leg spasticity is reported to become progressively worse during the disease and is prevalent in older patients, we first observed that the symptom had disappeared, probably due to the progressive peripheral nerve degeneration in the disease course. Thus, we should analyze the SACS gene even in cases of early-onset cerebellar ataxia without spasticity. The patient had a novel homozygous 2-base pair deletion mutation (c.5988-9 del CT) of the SACS gene, but the genotype was different from that in our first family of this phenotype. A further genotype-phenotype correlation study is required to clarify the molecular mechanism underlying 'sacsinopathies'.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Shimazaki H,Sakoe K,Niijima K,Nakano I,Takiyama Ydoi
10.1016/j.jns.2007.02.002subject
Has Abstractpub_date
2007-04-15 00:00:00pages
87-9issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(07)00106-2journal_volume
255pub_type
杂志文章abstract::Noninvasive ventilatory assistance, in ALS patients, with the bilevel intermittent positive air pressure (Bipap) was studied, in a prospective and controlled trial, by the authors. Twenty ALS bulbar patients, fulfilling El Escorial criteria for probable or definite disease, were selected. For the follow-up all patient...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/0022-510x(95)00052-4
更新日期:1995-05-01 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::Gliomas represent approximately one-third of all intracranial tumors in adults and commonly present clinically with seizures. We report two seizure patients with paradoxical imaging findings on preoperative grading of their cerebral gliomas. A 53-year-old man with a history of temporal lobe epilepsy originating from a...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.12.029
更新日期:2008-06-15 00:00:00
abstract::To assess the role of CSF oligoclonal bands (OB) in determining the clinical outcome in patients with relapsing-remitting multiple sclerosis (RRMS) treated with IFN-beta, we carried out a retrospective, multicentre, observational study recruiting 209 RRMS patients from six MS centres from northern, central and souther...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jns.2006.01.004
更新日期:2006-05-15 00:00:00
abstract::Twelve patients with neurobrucellosis and 17 patients with systemic brucellosis without neurological involvement underwent a brainstem auditory evoked potentials (BAEP) study. All neurobrucellosis patients (100%) showed abnormalities in their BAEP recordings, suggestive of brainstem lesions at various levels. On the o...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(88)90255-9
更新日期:1988-11-01 00:00:00
abstract::We have monitored the cell surface phenotypic changes occurring in T, B and NK cells of chronic progressive multiple sclerosis (MS) patients after total lymphoid irradiation (TLI) plus low-dose prednisone (TLI-LDP) therapy in comparison to sham TLI-LDP. TLI-LDP resulted in a marked reduction in the relative and absolu...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1016/s0022-510x(97)00156-1
更新日期:1997-11-25 00:00:00
abstract::We evaluated the efficacy of low-dose, add-on therapy of CLB in adults with refractory epilepsy. 28 patients were included: 12 with temporal lobe epilepsy (TLE), 14 with extratemporal lobe epilepsy (ETLE) and 2 with symptomatic generalized epilepsy (SGE). CLB was added with the initial dose of 2.5 mg/day and increased...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/j.jns.2007.05.025
更新日期:2007-12-15 00:00:00
abstract:BACKGROUND:The accumulation of toxic free radicals plays a pivotal role in the early molecular cascades of blood-brain barrier (BBB) disruption mediated by matrix metalloproteinases (MMPs) activation in ischemic stroke. Theoretically, it is expected that early blockade of activation of MMPs may provide protective effec...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.09.021
更新日期:2012-12-15 00:00:00
abstract:OBJECTIVE:To investigate the effect of mild cognitive impairment (MCI) on balance. METHODS:87 subjects with subjective memory impairment were enrolled, and subdivided into two groups, MCI and non-MCI, according to diagnostic criteria of amnestic subtype of MCI according to the 1999 MCI international panel (Current Con...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.02.031
更新日期:2011-06-15 00:00:00
abstract::In 13 patients with familial dysautonomia sleep recordings were obtained to investigate the possibility that autonomic nervous system dysfunction plays a role in disordered breathing during sleep. Sleep structure in some of our patients was abnormal, showing decreased amount of REM sleep and increased REM latencies. A...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(83)90131-4
更新日期:1983-07-01 00:00:00
abstract::Hemifacial spasm is characterised by unilateral contractions of the facial muscles. Though considered to be benign by many people, it can lead to functional blindness and a poor quality of life due to social embarrassment for the suffering individual. Botulinum toxin therapy is an excellent noninvasive tool to treat t...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2015.06.032
更新日期:2015-09-15 00:00:00
abstract::A study was made of Wistar rat soleus muscle following intraperitoneal administration of denervated muscle extract over 1 and 2 days. Light microscopy revealed the appearance on fiber surfaces of basophilic satellite structures whose histochemical behaviour differed from that of the parent fiber. Small fibers showing ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)00212-7
更新日期:1995-01-01 00:00:00
abstract::Here we report a case with positive serum anti-aquaporin 4 (AQP4) antibody who presented with hypersomnolence, symmetrical hypothalamic lesions and a reduced CSF orexin (hypocretin) level without optic nerve and spinal cord lesions on MRI. All of the symptoms, MRI finding and CSF orexin level improved simultaneously a...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.08.031
更新日期:2012-01-15 00:00:00
abstract::The p53-related p73 protein is an important mediator of apoptosis, development and tumorigenesis. Previously, we showed that over-expression of the p73beta isoform induced apoptosis in proliferating neuronal cells; however, the study did not address the effect of p73 in post-mitotic neurons. To address this question, ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2005.08.012
更新日期:2006-01-15 00:00:00
abstract::Cranial dystonia is normally considered as a pure movement disorder. Sensory symptoms have not received much attention, but we found ill-defined pain, discomfort, distortion of sensory modalities, 'phantom' kinetic or postural sensations in the orofacial areas subsequently involved by the dyskinesia in all of 11 conse...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(93)90318-s
更新日期:1993-06-01 00:00:00
abstract::Despite the involvement of cerebellar ataxia in a large variety of conditions and its frequent association with other neurological symptoms, the quantification of the specific core of the cerebellar syndrome is possible and useful in Neurology. Recent studies have shown that cerebellar ataxia might be sensitive to var...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(96)00231-6
更新日期:1997-02-12 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::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::Hallucinations and psychosis can be a part of Parkinson's disease and are considered to be a nonmotor symptom or a neuropsychiatric complication of the disease. Hallucinations of different modalities and delusions can occur beyond the common visual hallucinations. The various types of hallucinations and psychotic symp...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2017.01.014
更新日期:2017-03-15 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::Anti-Yo antibodies are present in the sera and cerebrospinal fluid of some patients with paraneoplastic cerebellar degeneration (PCD), but there is no evidence that the presence of anti-Yo antibodies causes the Purkinje cell loss seen in PCD patients. We examined the level of cytotoxic T lymphocyte (CTL) activity agai...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(99)00163-x
更新日期:1999-09-15 00:00:00
abstract::We examined insulin-like growth factor I (IGF-I)-dependent phosphorylation and protein tyrosine kinase (PTK) activity in cerebellar cortex of normal humans, patients with olivopontocerebellar atrophy (OPCA) ("C" kindred) and in lurcher mutant mouse, a suggested animal model for OPCA. PTK activity and IGF-I-dependent p...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90008-6
更新日期:1994-06-01 00:00:00
abstract::We hypothesize that Pittsburgh compound B (PIB) binding is common in poststroke dementia (PSD) and that cognitive decline may be faster in PIB positive patients. We performed PIB positron emission tomography (PET) among 17 subjects: 10 PSD patients, 4 Alzheimer's disease (AD) patients, and 3 healthy controls. We also ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.12.014
更新日期:2010-03-15 00:00:00
abstract::Weanling male Wistar rats fed a diet containing 0.5-2% cuprizone developed intramyelinic edema of the cerebellar white matter, hilum of the dentate nucleus and superior cerebellar peduncle. Oligodendrocytes in these regions showed hyperchromatic nuclei and abnormally dense cytoplasm, with an increase in the number of ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(88)90127-x
更新日期:1988-04-01 00:00:00
abstract::Adult onset cerebral X-ALD (AOCALD) is a rare disease, but should be considered an important differential diagnosis in adults presenting with leukencephalopathy. We here report the case of a 40-year-old man with a history of progressive cognitive decline who presented with a first-time seizure. Initial workup included...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.06.012
更新日期:2009-10-15 00:00:00
abstract::The extraction and purification of glial fibrillary acidic protein (GFAP) from human fibrillary cerebellar astrocytoma is described. Using an immunoperoxidase method, antisera raised to the protein showed specific staining of astrocytes in normal spinal cord and in tumours of astrocytic origin. A double antibody radio...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(79)90144-8
更新日期:1979-03-01 00:00:00
abstract::The gut microbiome is composed of an enormous number of microorganisms, generally regarded as commensal bacteria. Resident gut bacteria are an important contributor to health and significant evidence suggests that the presence of healthy and diverse gut microbiota is important for normal cognitive and emotional proces...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2019.03.027
更新日期:2019-05-15 00:00:00
abstract:BACKGROUND:The study aim was to evaluate the safety and efficacy of endovascular treatment (EVT) versus medical treatment (MT) in patients with symptomatic vertebral artery (VA) stenosis. METHODS:Randomized controlled trials with active and control groups receiving EVT plus MT and MT alone in patients with vertebro-ba...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析
doi:10.1016/j.jns.2018.05.024
更新日期:2018-08-15 00:00:00
abstract::We recently detected varicella zoster virus (VZV) in the temporal arteries (TA) of 5/24 patients with clinically suspect giant cell arteritis (GCA) whose TAs were GCA-negative pathologically; in those GCA-negative, VZV+TAs, virus antigen predominated in the arterial adventitia, but without medial necrosis and multinuc...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.09.034
更新日期:2013-12-15 00:00:00
abstract::Healthy brain tissue pulsates with the cardiac cycle, but whether brain tissue pulsations (BTPs) are impaired by tissue ischemia due to ischemic stroke is currently unclear. This study is the first to explore the clinical potential of measuring BTPs using ultrasound in acute ischemic stroke patients. BTPs were measure...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.117164
更新日期:2020-12-15 00:00:00