Abstract：
:Polyglutamine (poly-Q) diseases are late-onset neurodegenerative disorders arising from the expansion of an unstable CAG repeat in the affected gene, which is translated to a tract of glutamine residues. This kind of mutant proteins may be aggregated and accumulated, and thereby enhance cellular oxidative stress. In one of our previous studies (Free Radic. Res. 2003;37:1307-17), we found that alteration in the leukocyte mtDNA content is very sensitive to the level of oxidative stress in blood. Thus, we proposed that leukocyte mtDNA content may be used as a biomarker to predict the severity of clinical manifestation of poly-Q diseases. We recruited 50 healthy subjects and 114 patients with poly-Q diseases, including spinal cerebellar atrophy 2/3, spinal bulbar muscular atrophy, and Huntington chorea. We found that mtDNA in leukocytes was depleted in patients with poly-Q diseases (P<0.05). Moreover, the results showed that patients with lower mtDNA content more frequently manifested multiple-symptom disorders and had high CAG repeat numbers in the mutant genes. In conclusion, we suggest that leukocyte mtDNA content correlates with the length of GAG repeat and may serve as an index of the severity of poly-Q diseases.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Liu CS,Cheng WL,Kuo SJ,Li JY,Soong BW,Wei YHdoi
10.1016/j.jns.2007.07.016subject
Has Abstractpub_date
2008-01-15 00:00:00pages
18-21issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(07)00480-7journal_volume
264pub_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：PURPOSE:Brain interstitial fluid plays an important role in the excretion of metabolic waste products into the cerebrospinal fluid through perivascular spaces (PVS). To investigate the normal function of PVS in healthy elderly individuals, we assessed the relationship between PVS and white matter hyperintensity (WMH) o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.01.022
更新日期：2019-03-15 00:00:00
abstract：BACKGROUND:Although single-photon emission computerized tomography of the dopamine transporter (DAT-SPECT) is useful for diagnosing parkinsonian syndrome, its applicability toward the early phase of Parkinson's disease remains unknown. METHODS:We enrolled 32 patients showing parkinsonism with normal cardiac 123I-metai...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.04.026
更新日期：2017-06-15 00:00:00
abstract：:Multiple sclerosis (MS) is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS) with a complex etiology. Given the Vitamin D receptor (VDR) gene, it is considered an outstanding risk component associated with MS. The aim of the present study has been to explore and e...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.05.053
更新日期：2016-08-15 00:00:00
abstract：:A blink reflex consists of an early unilateral component, R1, and a late bilateral component, R2. During an acute phase of hemispheric cerebrovascular accident, R1 and R2 were abnormal in 30 and 50 of 66 patients, respectively. Paired stimuli usually corrected R1 but not R2, which was profoundly suppressed. The discre...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(85)90018-8
更新日期：1985-01-01 00:00:00
abstract：:We examined 19 muscle biopsies from 14 patients with autosomal recessive distal muscular dystrophy (DisMD) histochemically and immunohistochemically to characterize the histologic features of this disease and to determine whether dystrophin and dystrophin-associated proteins (DAPs) are normally present in the muscles ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90096-5
更新日期：1994-10-01 00:00:00
abstract：:The physiological and histological changes following injection of 10 microliter of proteinase K into the rat tibial nerve have been compared with those induced by proteinase K and specific inhibitor phenylmethylsulphonyl fluoride (PMSF) and also by rabbit experimental allergic neuritis (EAN) serum. Proteinase K and PM...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90005-0
更新日期：1987-12-01 00:00:00
abstract：:The present study tested aspects of a novel etiological/pathogenetic hypothesis of Alzheimer's disease (AD), which proposes that alterations in endocrine regulation of peripheral calcium/phosphate (Ca/PO4) homeostasis (e.g., by glucocorticoids, vitamin D, etc.) induce and/or reflect altered calcium homeostasis and neu...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90261-5
更新日期：1991-12-01 00:00:00
abstract：BACKGROUND:VTI1A and ETFA were identified recently as susceptibility genes for non-glioblastoma (GBM) of glioma risk in European populations, but the genetic etiology and pathogenesis of glioma have not been fully elucidated. Here, we aimed to investigate whether common genetic variants in VTI1A and ETFA predispose Han...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.02.013
更新日期：2017-04-15 00:00:00
abstract：:As we learn more about the relationships between depression and cerebrovascular disease (CVD), a complex picture is emerging in which the chain of causality seems to spiral on itself: progressive or focal brain damage, cognitive impairment, depressive symptoms, dementia, and cardiovascular diseases, all seem to be lia...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2004.09.012
更新日期：2004-11-15 00:00:00
abstract：:We have investigated protein expression and genotype in 59 Becker muscular dystrophy (BMD) patients. The aim was to identify possible causes of the marked variability in phenotype in patients with similar deletions/mutations. The patients were examined neurologically and functionally and underwent Manual Muscle Testin...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/0022-510x(95)00147-t
更新日期：1995-10-01 00:00:00
abstract：:Clinical manifestations, outcomes, prognostic indicators, and clinico-epidemiological subgroups were described based on the information of 71 patients with Guillain-Barré syndrome (GBS), who were identified from a prospective survey in Harbin, China during a 1-year period from 1 October 1997 to 30 September 1998. GBS ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(03)00187-4
更新日期：2003-11-15 00:00:00
abstract：:A 70-year-old woman had complex behavioural changes of sudden onset. The symptoms consisted of indifference, docility and inappropriate urination, but predominantly in a lack of attention. She was unable to maintain the attention necessary to perform a goal-directed activity and she was distracted by any stimulus, suc...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(81)90107-6
更新日期：1981-08-01 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：:Hitherto published results on the impact of brain atrophy on the neurological and psychopathological sympion of this problem without risk of complications. We investigated 173 parkinsonian patients (89 men, 84 women) aged 37--83 years. Besides CT in all patients a standardized neurological and psychopathological inves...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(79)90050-9
更新日期：1979-07-01 00:00:00
abstract：:Visual function was studied in a group of 15 patients with hereditary motor and sensory neuropathy (HMSN). Psychophysical measures of luminance and chromatic threshold and temporal contrast sensitivity were undertaken, together with visual evoked potentials (VEPs), visual fields and clinical neuro-ophthalmological exa...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90296-b
更新日期：1993-02-01 00:00:00
abstract：:A patient developed frontal-lobe syndrome and psychotic symptoms after infarction in the pontomesencephalic junction. Stereotaxic lesion localization on magnetic resonance imaging and statistical analyses of regional cerebral blood flow (rCBF) disclosed an involvement of the rostral brainstem dopaminergic nuclei and h...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.04.021
更新日期：2007-09-15 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：BACKGROUND:As available disease-modifying therapies (DMTs) increase, evaluating benefit/risk presents greater difficulties, requiring people with MS (PwMS) to play crucial roles in choosing treatment. Although individual attitude toward risk may predict this evaluation, its relation to personality is little studied in ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117064
更新日期：2020-10-15 00:00:00
abstract：PURPOSE:To investigate the presence of an ethnicity bias within patients presenting with optic neuritis in London. DESIGN:Observational cross-sectional study. METHODS:The ethnicity profile of all patients attending a neuro-ophthalmology clinic in central London with acute optic neuritis over a 16month period (n=86) w...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.08.030
更新日期：2012-01-15 00:00:00
abstract：:The fibre composition of functionally different regions, the superficial and the deep portions, of the human masseter and the biceps brachii muscles of six elderly subjects (mean age 74 years) was studied by morphological and enzyme-histochemical methods. When compared to previous data for young adults, the masseter m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(97)00208-6
更新日期：1998-01-21 00:00:00
abstract：:Alzheimer's disease (AD) is a complex disorder and the most common form of neurodegenerative dementia. Several genetic, environmental, and physiological factors, including inflammations and metabolic influences, are involved in the progression of AD. Inflammations are composed of complicated networks of many chemokine...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2017.03.031
更新日期：2017-05-15 00:00:00
abstract：BACKGROUND:The treatment of amyotrophic lateral sclerosis (ALS) is still disappointing. Repetitive transcranial magnetic stimulation (rTMS) has been suggested to modify the rate of disease progression in ALS. OBJECTIVE:In a pilot controlled study, we tested the effect of 5-Hz rTMS on motor performance, fatigue and qua...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.01.011
更新日期：2008-07-15 00:00:00
abstract：PURPOSE:To describe additional cases of subacute encephalopathy with seizures in alcoholics (SESA) syndrome, and to question the clinical and radiological course. METHODS:We retrospectively analyzed the clinical characteristics, electroencephalography (EEG), MRI studies at the admission and over the following 6 months...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.10.022
更新日期：2019-01-15 00:00:00
abstract：:Event-related potentials (ERPs) generated during the performance of visual discrimination tasks were studied in 31 patients with Parkinson's disease, 9 patients with Alzheimer's disease, and 37 normal control subjects. Actively and passively evoked P3 components (P3b and P3a) were respectively identified as the compon...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(92)90061-o
更新日期：1992-09-01 00:00:00
abstract：:We report the clinical, neuroradiological and biochemical features of a patient with epilepsia partialis continua (EPC). MRI studies disclosed multiple cortico-subcortical areas of abnormal signal intensity. The activity of complex I of the mitochondrial respiratory chain was markedly reduced in skeletal muscle. The b...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)00267-r
更新日期：1995-04-01 00:00:00
abstract：:Ideomotor apraxia (IMA) is a disorder traditionally characterized by deficits in properly performing tool-use pantomimes (e.g., pretending to use a hammer) and communicative gestures (e.g., waving goodbye). These deficits are typically identified with movements made to verbal command or imitation. Questions about this...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.04.014
更新日期：2007-09-15 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：PURPOSE:To provide an up-to-date estimate on the changing prevalence of stroke survivors, and examines the geographic and socioeconomic variations in low and middle-income countries (LMICs). METHODS:We searched MEDLINE, EMBASE, SCOPUS and Web of Science databases and systematically reviewed articles reporting stroke p...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.jns.2016.03.016
更新日期：2016-05-15 00:00:00
abstract：:We studied a 53-year-old woman with progressive weakness of the left arm, gradually spreading to the other limbs. Neurological examination revealed a motor neuron syndrome with paresis, fasciculations and atrophy. Electrophysiological studies showed multiple motor conduction blocks. The anti-GM1 IgM titer was elevated...
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
