Abstract:
OBJECTIVE:Report on the kind and distribution of somatotopic sensation loss and its utility in assessing severity of sensation loss in study of a large international cohort of patients with hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN). METHODS:Smart Somatotopic Quantitative Sensation Testing (S ST QSTing) using Computer Assisted Sensation Evaluator IVc (CASE IVc) was used to assess the somatotopic distribution of touch pressure (TP) and heat pain (HP) sensation loss twice of untreated hATTR-PN patients in the Ionis NEURO-TTR trial (www.clinicaltrials.gov, NCT01737398). RESULTS:Of the studied cohort of 169 patients, 163 (97%) had sensation loss, both TP and HP in 121/169 (75%), TP only in 39/169 (23%), and HP only in 3/169 (2%). Sensation loss typically affected both lower (152/169-90%) and upper limb (135/169-82%), and overall TP sensation loss was greater than HP loss, except for early-onset Val30Met patients in which HP exceeded TP loss. CONCLUSION:Using S ST QSTing, a highly quantitated, standardized, referenced, and automated QSTing approach of the body's surface distribution of sensation loss we have shown that: 1) reliable and useful measurement of the body surface distribution of sensation loss is possible; 2) this measure is abnormal in most patients with hATTR-PN and is an indication of polyneuropathy severity; and 3) cutaneous sensation loss involves both large and small sensory fibers in this disease but slightly more small fibers in early onset Val30Met patients.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Pinto MV,Dyck PJB,Gove LE,McCauley BM,Ackermann EJ,Hughes SG,Waddington-Cruz M,Dyck PJdoi
10.1016/j.jns.2018.08.031subject
Has Abstractpub_date
2018-11-15 00:00:00pages
78-83eissn
0022-510Xissn
1878-5883pii
S0022-510X(18)30352-6journal_volume
394pub_type
杂志文章abstract:OBJECTIVE:Neurodegenerative diseases are often characterized by the presence of intracellular or extracellular protein aggregates in the central nervous system. Mutations of TARDBP gene have been shown to cause Amyotrophic Lateral Sclerosis and have been reported to present with clinical heterogeneity including parkins...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2018.04.043
更新日期:2018-07-15 00:00:00
abstract:BACKGROUND:Hippocampal atrophy is an early feature of Alzheimer's disease (AD) but it has also been reported in vascular dementia (VaD). It is uncertain whether hippocampal size can help differentiate the two disorders. METHODS:We assessed 90 stroke/TIA patients 3-6 months after the event, and 75 control subjects, wit...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.04.006
更新日期:2007-09-15 00:00:00
abstract::We performed a quantitative neuropathological investigation of senile plaques and neurofibrillary tangles in the brains of 14 Japanese patients with diffuse Lewy body disease (DLBD), and examined apolipoprotein E (APOE) gene polymorphism in these patients. Most DLBD brains had as many senile plaques as those with Alzh...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(95)00312-p
更新日期:1996-03-01 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
abstract::Guillain-Barré Syndrome (GBS) is the most frequent cause of neuromuscular paralysis in industrialized countries and usually occurs after respiratory and gastrointestinal infections. However, in rare cases GBS is associated with Graft-versus-Host Disease (GvHD). In the present case we report on a female allogeneic bone...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.01.020
更新日期:2010-05-15 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
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:BACKGROUND AND AIM:Cerebral hemiatrophy (CHA) is a congenital or acquired loss of volume in one hemisphere of the brain. The MR findings of the affected hemisphere have been a subject of many studies, however, the contralateral hemisphere has not been investigated. There is, in fact, an integrity between two hemisphere...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.02.055
更新日期:2016-04-15 00:00:00
abstract::We report a new Japanese family of sialidosis type I. The sialidase activity was deficient in the lymphocytes of 2 patients (6.8% (sister) and 12.5% (brother) of control mean). However, surprisingly, using the transformed lymphocytes by EB virus, this activity was activated to 51.7% (sister) and 49.5% (brother) of con...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(95)00102-8
更新日期:1995-07-01 00:00:00
abstract::Though the etiology of Parkinson's disease (PD) is unresolved and may be heterogeneous involving both environmental and genetic factors, there are indications that oxidative stress plays an important role in dopaminergic neuronal death. And, it has been reported that inhibition of nitric oxide synthase (NOS) can preve...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(01)00666-9
更新日期:2002-02-15 00:00:00
abstract::Diabetic nerve reveals a peculiar paradox between its physiological resistance to ischemia, in conducting impulses for longer than control nerve during ischemia, and its morphological liability to more severe pathological changes of nerve fiber when rendered ischemic. These paradoxical phenomena, however, have never b...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(93)90129-m
更新日期:1993-11-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Autonomic disturbances and sleep problems are common non-motor symptoms in patients with Parkinson's disease (PD). Orthostatic hypotension, supine hypertension (SH), and nocturnal hypertension (NH) are inter-related in patients with PD. These abnormalities might be associated with restless legs...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.06.056
更新日期:2014-09-15 00:00:00
abstract::The pattern of arterial occlusion and related lesions have been studied in 26 cases with 38 medullary infarcts. In 10 of these cases, only the intracranial vessels were examined. In the 16 other cases, the entire cerebral arterial supply was dissected. Medial infarcts were more often related to occlusion of the verteb...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(76)90051-4
更新日期:1976-05-01 00:00:00
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 card...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90133-3
更新日期:1994-12-01 00:00:00
abstract:OBJECTIVE:To explore the role of cardiovascular risk factors and the different NOTCH-3 mutations to explain the variability observed in the clinical presentation of CADASIL. METHODS:This was a retrospective cohort study of 331 individuals, 90 were carriers of four mutations in the NOTCH3 gene. These four mutations are...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.117178
更新日期:2020-12-15 00:00:00
abstract::Bacillus Calmette-Guérin (BCG) and Mycobacterium avium subspecies paratuberculosis (MAP) have been associated with multiple sclerosis (MS). Clinical data indicates that BCG vaccination exerts anti-inflammatory effects in MS; conversely, MAP is thought to be one of the possible infectious factors responsible of MS thro...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.09.023
更新日期:2014-12-15 00:00:00
abstract::The effects of subthalamic nucleus (STN) stimulation on cognition and mood have not been well established. The authors estimated cognitive and mood effects of bilateral subthalamic nucleus deep brain stimulation (STN DBS) in patients with Parkinson's disease (PD) at 6 months and 1 year postoperatively. Forty-six patie...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/j.jns.2008.06.010
更新日期:2008-10-15 00:00:00
abstract::We report on a four-year-old girl with head trauma caused by a motor vehicle accident. She presented with delirium, oculomotor palsy and ptosis in her left eye, left hemiparesis, and pyramidal signs in all extremities. Computed tomography on the day of admission showed diffuse cerebral edema with right-sided predomina...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.06.048
更新日期:2007-12-15 00:00:00
abstract:BACKGROUND:We recently reported that left versus right hemisphere cerebral infarctions patients more frequently have worse outcomes. However our clinical experience led us to suspect that the incidence of malignant middle cerebral artery infarctions (MMCA) was higher in the right compared to the left hemispheric stroke...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2015.04.036
更新日期:2015-01-01 00:00:00
abstract::Theory of Mind is an important concept within social cognition and refers to the ability to attribute mental states to oneself and others. Other terms for this concept include mentalizing and mind reading. Deficits in Theory of Mind may contribute to behavioral abnormalities, such as paranoia and delusions that are co...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2011.06.004
更新日期:2011-11-15 00:00:00
abstract::Nitric oxide (*NO)-mediated toxicity has been involved in neurodegenerative diseases, including Parkinson's disease (PD). We have recently reported an increase of about 50% in *NO production rate in PMA-activated polymorphonuclear leukocytes (PMN) from either newly diagnosed or chronically treated PD patients. As humo...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(99)00079-9
更新日期:1999-05-01 00:00:00
abstract::In addition to the G2019S mutation in the leucine-rich repeat kinase 2 gene (LRRK2), which is particularly frequent in patients of Ashkenazi Jewish and Northern African origin, three amino acid substitutions (R1441C, R1441G, and R1441H), all at the same residue (R1441), have been identified as important genetic causes...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2006.09.017
更新日期:2006-12-21 00:00:00
abstract::Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating disorder of the central nervous system characterized by nystagmus, motor developmental delay, ataxia, and progressive spasticity. The gap junction protein gamma-2 gene (GJC2), encoding the gap junction protein connexin 47, is one of the...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.04.017
更新日期:2013-07-15 00:00:00
abstract:BACKGROUND:There is a need for biomarkers that can classify optic neuritis (ON) attacks as belonging to either neuromyelitis optica spectrum disorder with optic neuritis (NMOSD-ON) or relapsing remitting multiple sclerosis with optic neuritis (MS-ON). This study uses spectral domain optical coherence tomography (SD-OCT...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.11.017
更新日期:2018-01-15 00:00:00
abstract:BACKGROUND:Motor impairment in Parkinson's disease (PD) includes slowness (bradykinesia), decreased amplitude (hypokinesia), impaired rhythm and a progressive reduction in speed and amplitude during movement repetition (sequence effect). In the present study we aimed to analyse bradykinesia features in newly-diagnosed ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.08.028
更新日期:2016-10-15 00:00:00
abstract::Contraction tension and kinetics of the peroneus longus muscle were studied in dogs with the Duchenne homologue, golden retriever muscular dystrophy (GRMD), in advance of evaluating localized therapies such as myoblast transplantation. Absolute and both muscle- and body-weight-corrected twitch tension in GRMD dogs wer...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90210-0
更新日期:1994-05-01 00:00:00
abstract::A variety of neurological conditions and disease states are accompanied by pseudobulbar affect (PBA), an emotional disorder characterized by uncontrollable outbursts of laughing and crying. The causes of PBA are unclear but may involve lesions in neural circuits regulating the motor output of emotional expression. Sev...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2006.06.030
更新日期:2007-08-15 00:00:00
abstract:OBJECTIVE:To clarify the prevalence and clinical characteristics of myasthenia gravis (MG) in Japan. METHODS:We performed a nationwide epidemiological survey of MG in Japan. The clinical features were compared among five groups of patients, divided according to onset age. A generalized additive model (GAM) was used to...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.03.004
更新日期:2011-06-15 00:00:00
abstract:BACKGROUND:Pontine infarcts can be classified into four regions based on the vascular anatomy: anteromedial, anterolateral, lateral and posterior. The purpose of this study was to determine if different etiological mechanisms are responsible for these four types of pontine infarcts. METHODS:We studied consecutive pati...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.01.039
更新日期:2014-04-15 00:00:00
abstract::Aceruloplasminemia is a disorder of iron metabolism caused by mutations in the ceruloplasmin gene. It is characterized by progressive neurodegeneration of the retina, basal ganglia, dentate nucleus and cerebral cortex in association with iron accumulation in these tissues. Enzyme activities in the mitochondrial respir...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(00)00452-4
更新日期:2000-12-15 00:00:00