Abstract:
:We detected androgen receptor (AR) mRNA expression in various tissues in the patients with X-BSNP and controls using reverse transcription polymerase chain reaction (RT-PCR) and Northern blot analysis. The AR mRNAs were expressed in a wide variety of tissues including the testis, scrotal skin, liver, skeletal and cardiac muscles, sciatic nerve, sympathetic and dorsal root ganglia and spinal cord, and were all abnormally elongated in the size of the CAG repeat in the patients. The mutant AR gene with increased size of tandem CAG repeat was directly transcribed in various tissues, and would be related to a wide spectrum of phenotypic manifestations in X-BSNP.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Doyu M,Sobue G,Kimata K,Yamamoto K,Mitsuma Tdoi
10.1016/0022-510x(94)90133-3subject
Has Abstractpub_date
1994-12-01 00:00:00pages
43-7issue
1eissn
0022-510Xissn
1878-5883pii
0022-510X(94)90133-3journal_volume
127pub_type
杂志文章abstract::The size and the distribution of type I and tye II fibres was determined in the gluteus maximus (21 cases), gluteus medius (56 cases) and tensor faciae latae (27 cases) muscles of patients with osteoarthritis of the hip. The patients were of both sexes, aged between 37 and 64 years (younger group) and between 65 and 7...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90123-9
更新日期:1980-01-01 00:00:00
abstract::The effects of combined treatment with low-density lipoprotein (LDL)-apheresis, chenodeoxycholic acid (CDCA) and 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) reductase inhibitor were studied in 2 patients with cerebrotendinous xanthomatosis. Patient 1 was initially treated with LDL-apheresis alone: serum cholestanol level...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/j.jns.2003.07.005
更新日期:2003-12-15 00:00:00
abstract:BACKGROUND:The mechanisms for improved cognitive function post-bariatric surgery are not well understood. Markers of kidney and liver function (i.e., cystatin C and alkaline phosphatase (ALP)) are elevated in obese individuals and associated with poor neurocognitive outcomes in other samples. Bariatric surgery can impr...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.07.037
更新日期:2014-10-15 00:00:00
abstract:INTRODUCTION:The B-cell chemoattractant CXCL13 has been suggested as a cerebrospinal fluid (CSF) biomarker for Lyme neuroborreliosis (LNB). Our aim was to substantiate the value of CXCL13 in a large unselected cohort and determine a practical cut-off value to diagnose LNB. METHODS:We retrospectively studied clinical a...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.116843
更新日期:2020-07-15 00:00:00
abstract:BACKGROUND:Although most patients with Parkinson's disease (PD) show decreased cardiac (123)I-metaiodobenzylguanidine (MIBG) uptake, some exhibit normal uptake. We evaluated the clinical characteristics of such patients. METHODS:We enrolled 154 non-demented patients showing parkinsonism with normal cardiac MIBG uptake...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.10.059
更新日期:2015-12-15 00:00:00
abstract::Five males in one kindred suffered from intermittent ataxia and one female may have been more mildly affected. The pattern of inheritance strongly suggests X-linkage. Cerebral pathology in one case had some features of Leigh's disease. A defect in pyruvate metabolism was found in two cases. Acetazolamide gave a tempor...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(84)90059-5
更新日期:1984-04-01 00:00:00
abstract::This paper reviews the current state of knowledge about the use of diffusion-weighted MRI in the field of multiple sclerosis (MS) research. The contribution that diffusion-weighted imaging has made to our understanding of MS is critically appraised, and pointers are given to the sort of work that needs to be done befo...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/s0022-510x(01)00492-0
更新日期:2001-05-01 00:00:00
abstract::Baló's concentric sclerosis (BCS) and tumefactive demyelination (TD) are considered atypical forms of multiple sclerosis (MS). Baló lesions are characterized by concentric rings corresponding to alternating bands of demyelination and relatively preserved myelin (Hu and Lucchinetti, 2009). Tumefactive lesions are pseud...
journal_title:Journal of the neurological sciences
pub_type: 信件
doi:10.1016/j.jns.2014.11.024
更新日期:2015-01-15 00:00:00
abstract::The interictal hypometabolism in patients with focal epilepsy is usually regarded as stationary. In this study we investigated to which extent the hypometabolism may depend on the activity of the epileptic focus. In focal penicillin-induced epilepsy in rats the epileptic focus is hypermetabolic. This focus is accompan...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/0022-510x(94)90325-5
更新日期:1994-07-01 00:00:00
abstract:OBJECTIVE:Delirium is an independent risk factor for cognitive impairment and development of dementia in medical patients. It has never been thoroughly studied whether this association is also present in the stroke population. Our aim was to evaluate the effects of delirium in the acute phase after stroke on cognitive ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.03.024
更新日期:2011-07-15 00:00:00
abstract::Focal spinal cord blood flow was measured in the left dorsal column during left sciatic nerve stimulation, and compared to blood flow in the same area during sciatic nerve inactivity. Blood flow was found to be significantly increased during stimulation. It is suggested that this increased blood flow is a reflection o...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(78)90148-x
更新日期:1978-10-01 00:00:00
abstract::Sleep disturbance is one of the commonly reported non-motor symptoms in patients with Parkinson's disease (PD) as well as in Parkinson plus disorders such as multiple system atrophy (MSA), dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP), and corticobasal syndrome (CBS). Although there is a wealth...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2020.116891
更新日期:2020-08-15 00:00:00
abstract::Positron emission tomography studies on the regional cerebral glucose metabolism (rCMRglc) and 18F-fluorodopa (18F-Dopa) uptake were performed in 3 patients with Machado-Joseph disease (MJD), a dominantly inherited degenerative disease in the cerebellum, brainstem and basal ganglia. The rCMRglc in MJD was found to be ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(96)00242-0
更新日期:1997-01-01 00:00:00
abstract::Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). The most common demyelinating form is CMT1A with an underlying duplication in the ge...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.03.008
更新日期:2009-06-15 00:00:00
abstract::To distinguish the different origins of cervical N13 potentials in median nerve somatosensory evoked potentials (SSEPs), cervical N13 potentials were recorded by two different montages. The abnormal patterns of the SSEPs were compared to the abnormal evoked spinal cord responses (ESCPs) recorded from posterior epidura...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(01)00509-3
更新日期:2001-06-15 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::Three patients with acute disseminated encephalomyelitis (ADE) and 4 patients in the terminal stages of multiple sclerosis (MS) were subjected to treatment with Cop 1, a synthetic copolymer of amino acids, which had previously been shown to have a beneficial effect in the treatment of experimental allergic encephalomy...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90220-9
更新日期:1977-04-01 00:00:00
abstract::Myotonic dystrophy type 1 (DM1), an autosomal dominant disease characterized by a CTG expansion in the 3' region of the DMPK gene in chromosome 19, is a highly heterogeneous disease. In this study, we present a family with early onset-classical type DM, and a homogeneous phenotype highlighted by severe neuromuscular s...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(02)00442-2
更新日期:2003-04-15 00:00:00
abstract::Monthly dual-echo spin-echo (SE) and enhanced magnetic resonance imaging (MRI) after the injection of a standard dose (SD) of gadolinium (Gd) is the conventional approach to monitor short-term disease activity in multiple sclerosis (MS). In this study, the sensitivity of this approach in detecting active lesions in MS...
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/s0022-510x(98)00144-0
更新日期:1998-07-15 00:00:00
abstract::In the last two decades functional magnetic resonance imaging (fMRI) has dominated research in neuroscience. However, only recently has it taken the first steps in translation to the clinical field. In this paper we describe the advantages of fMRI and DTI and the possible benefits of implementing these methods in clin...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2011.07.040
更新日期:2012-01-15 00:00:00
abstract::Two of the more consistent findings in Alzheimer's disease are depressions in frontal and temporoparietal glucose metabolism and a loss of cholinergic neurons in the nucleus basalis of Meynert. Nonetheless, cholinergic replacement strategies have had only minimal therapeutic successes. Whether this situation reflects ...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/0022-510x(94)90202-x
更新日期:1994-05-01 00:00:00
abstract::In boys with Duchenne muscular dystrophy (DMD) plasma myoglobin levels remained approximately constant with age while creatine kinase (CK) activity progressively decreased. For carrier detection, plasma myoglobin level was found to be less reliable than CK activity. The myoglobin level was raised only in some of those...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(84)90194-1
更新日期:1984-02-01 00:00:00
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 demonstr...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2006.03.013
更新日期:2006-08-15 00:00:00
abstract::The pattern of mental dysfunction in multiple sclerosis (MS) is characteristic of the so-called subcortical dementia. Cognitive dysfunction results predominantly by the disruption of communication among cortical and subcortical areas, as a consequence of the white matter damage. As expected, studies with conventional ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/s0022-510x(99)00282-8
更新日期:2000-01-15 00:00:00
abstract::Multiple sclerosis (MS) is a lifelong neurologic disease leading to moderate or severe disability in the majority of affected patients. Studies of the natural history of MS suggest that 90% of patients with relapsing-remitting MS eventually develop secondary progressive (SP) disease. Magnetic resonance imaging (MRI) s...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/s0022-510x(02)00039-4
更新日期:2002-05-15 00:00:00
abstract::To develop diagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP), a retrospective series of patients' records diagnosed by sexpert consensus as CIDP or other chronic polyneuropathies were analyzed. Classification and regression tree analysis was applied to 150 patients to derive a classifica...
journal_title:Journal of the neurological sciences
pub_type: 共识发展会议,杂志文章
doi:10.1016/j.jns.2008.11.015
更新日期:2009-02-15 00:00:00
abstract::Association of changes in olfactory-related structures with olfactory function in patients with multiple sclerosis (MS) is not well understood. We used a T&T olfactometer test kit to evaluate olfactory function in 26 patients with MS and 26 age- and sex-matched healthy controls (HC). Then, Brain MRI were performed and...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.03.045
更新日期:2016-06-15 00:00:00
abstract::Muscle biopsies of hypotonic children have shown delayed maturation of a fetal type of muscle fibers: subsarcolemmal halo devoid of activity for mitochondrial dehydrogenases, type II predominance and in some cases abnormal dispersion of fiber diameter. Fiber subtypes within group II were also abnormal. One case has de...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(78)90184-3
更新日期:1978-11-01 00:00:00
abstract::The localization of the olivo-cerebellar fibers in the inferior cerebellar peduncle was examined in a patient who showed severe degeneration of the left olivary nucleus due to an old hemorrhagic infarct in the contralateral cerebellum. Other precerebellar nuclei which send their cerebellipetal axons to the inferior ce...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(78)90139-9
更新日期:1978-10-01 00:00:00
abstract::Two young women with ischemic stroke successfully underwent intra-arterial thrombolysis (IAT) 10 and 11h, respectively after stroke onset. A 23-year-old (case 1) and a 22-year-old woman (case 2) who developed severe neurological deficits (NIHSS 20 and 13, respectively) were presented to our hospital 9h after onset of ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.10.003
更新日期:2010-01-15 00:00:00