Abstract:
OBJECTIVE:To establish differences in basal ganglia and thalamic volume between preclinical carriers and non-carriers of the Huntington's disease (HD) gene and to link the volume to motor, cognitive and behavioural characteristics in carriers. METHODS:Sixteen HD gene carriers without overt clinical motor signs and 14 non-gene carriers underwent clinical evaluation and a MRI scan. Volumes of the caudate nucleus, putamen, gobus pallidus and thalamus were measured using T1-weighted MR images. Motor, cognitive and behavioural functioning was assessed using the Unified Huntington's Disease Rating Scale (UHDRS), cognitive testing and the Beck Depression Inventory (BDI-II). RESULTS:Volumes of the caudate nucleus, putamen and globus pallidus were significantly smaller in carriers than in non-carriers while no differences between groups were found on clinical evaluation. In gene carriers smaller globus pallidus volume was associated with more motor abnormalities. A smaller putamen volume correlated significantly with worse psychomotor function on the Symbol Digit Modalities Task and the Trail Making Test B. CONCLUSIONS:In line with previous research we demonstrated that basal ganglia abnormalities precede overt disease manifestation of HD. Besides we showed that smaller basal ganglia volumes are related to subtle motor abnormalities and worse psychomotor performance in gene carriers without clinical diagnosis. Motor and psychomotor measures may be suitable clinical markers in future neuroprotective trials when combined with volumetric imaging.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Jurgens CK,van de Wiel L,van Es AC,Grimbergen YM,Witjes-Ané MN,van der Grond J,Middelkoop HA,Roos RAdoi
10.1007/s00415-008-0050-4subject
Has Abstractpub_date
2008-11-01 00:00:00pages
1785-91issue
11eissn
0340-5354issn
1432-1459journal_volume
255pub_type
杂志文章abstract:INTRODUCTION:PCT is used in the diagnosis of acute neurological syndromes, particularly stroke. We aimed to evaluate PCT abnormalities in patients with acute epileptic seizures or status epilepticus (SE). METHODS:We collected patients undergoing acute PCT for the suspicion of acute ischemic stroke (AIS), who received ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9095-1
更新日期:2018-12-01 00:00:00
abstract:INTRODUCTION:The so called "neurodegenerative Langerhans cell histiocytosis" (ND-LCH) is a rare and severe complication of LCH presenting as a progressive cerebellar ataxia associated with pyramidal tract signs, and cognitive impairment. MRI is the gold standard to investigate CNS lesions of ND-LCH but little is known ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0751-8
更新日期:2008-04-01 00:00:00
abstract::We recently reported findings that loss of cortical acetylcholinesterase (AChE) activity is greater in parkinsonian dementia than in Alzheimer's disease (AD). In this study we determined cognitive correlates of in vivo cortical AChE activity in patients with parkinsonian dementia (PDem, n = 11), Parkinson's disease wi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0971-0
更新日期:2006-02-01 00:00:00
abstract:: ...
journal_title:Journal of neurology
pub_type: 信件
doi:10.1007/s00415-018-9066-6
更新日期:2018-12-01 00:00:00
abstract:BACKGROUND:Dysarthria may be classified as flaccid, spastic, ataxic, hypokinetic, choreatic, dystonic, or mixed. We hypothesized that in routine neurological practice the reliability and accuracy of perceptual analysis alone in the classification of dysarthria is low and that this classification is mainly based on the ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0978-4
更新日期:2008-10-01 00:00:00
abstract::Regional cerebral glucose metabolism (rCMRGlc) and dopamine D2 receptor binding were measured in a 31-year-old, severely affected, untreated patient with Wilson's disease of 3 years' duration using positron emission tomography and 18F-deoxyglucose and 18F-methylspiperone ([18F]MSP), respectively. There was a severe re...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00920620
更新日期:1994-10-01 00:00:00
abstract::A total of 21 patients with normal-pressure hydrocephalus were examined. Cerebrospinal fluid (CSF) was collected before and after operation with a ventriculoperitoneal shunt. A slight plasma-like protein pattern indicating a blood-brain barrier (BBB) dysfunction was seen in 38% of the patients before operation. No cha...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313729
更新日期:1982-01-01 00:00:00
abstract::Among 234 hemophiliacs, 14 patients (5.9%) with intracranial and 1 patient (0.4%) with intramedullary hemorrhage were observed and examined. The average age at the time of hemorrhage was 17 years in patients with severe hemophilia and 43 years in patients with moderate hemophilia. The patients with mild hemophilia and...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313358
更新日期:1976-01-14 00:00:00
abstract::To evaluate the clinical and electrophysiological similarities and differences between two large groups of patients with Charcot-Marie-Tooth disease, i.e. CMT1A and CMT2, we performed a post hoc comparison of clinical and electrophysiological data. Most CMT1A and CMT2 patients had the classical CMT phenotype. Age of o...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0260-6
更新日期:2006-12-01 00:00:00
abstract::Multiple system atrophy (MSA) manifests as a combination of dysautonomia and motor symptoms/signs. However, rare cases presenting with autonomic failures in absence of motor symptoms/signs until their deaths have been reported and are referred to as non-motor MSA. To clarify pathological findings underlying non-motor ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8604-y
更新日期:2017-11-01 00:00:00
abstract::In this review, we describe the wide clinical spectrum of features that can be seen in multiple system atrophy (MSA) with a focus on the premotor phase and the non-motor symptoms providing an up-to-date overview of the current understanding in this fast-growing field. First, we highlight the non-motor features at dise...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09881-6
更新日期:2020-09-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Mechanical thrombectomy (MT) improves early clinical outcome in patients with acute ischemic stroke but insights on determinants of long-term outcome after MT treatment are scarce. METHODS:Data from stroke patients with anterior circulation large vessel occlusion of a prospective MT registry (01...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09670-w
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:The variability of the severity and regional distribution of pathological process in basal ganglia (BG) and brainstem-cerebellar systems results in clinical heterogeneity and represents the motor subtype of multiple system atrophy (MSA). This study aimed to quantify spatial patterns of multimodal MRI abnormal...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8874-z
更新日期:2018-07-01 00:00:00
abstract::The cause of idiopathic intracranial hypertension (IIH) remains unknown, and no consensus exists on how patients should be monitored and treated. Acetazolamide is a common treatment but has never been examined in a randomised controlled trial. The objectives of this pilot trial are to prospectively evaluate the use of...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s00415-010-5861-4
更新日期:2011-05-01 00:00:00
abstract:BACKGROUND:Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that still lacks reliable diagnostic biomarkers. This study aims to evaluate the diagnostic and prognostic potential of CSF total Tau (t-Tau), phospho-Tau (p-Tau) and p-Tau/t-Tau ratio in ALS patients using CSF neurofilament light (NFL)...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9008-3
更新日期:2018-10-01 00:00:00
abstract::Although central facial paresis (CFP) is a major symptom of stroke, there is a lack of studies on the motor and non-motor disabilities in stroke patients. A prospective cohort study was performed at admission for inpatient rehabilitation and discharge of post-stroke phase of 112 patients (44% female, median age: 64 ye...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9099-x
更新日期:2019-01-01 00:00:00
abstract::The clinicopathological findings of a 50-year-old man, who developed cervicothoracic syringomyelia at the age of 25 are presented. He was given radiation therapy at the age of 33. At the age of 57 he developed a foramen jugulare syndrome on the left, caused by a low grade leiomyosarcoma. Etiologically, the most attrac...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313150
更新日期:1980-01-01 00:00:00
abstract:RATIONALE:Phase I/II studies of autologous hematopoietic stem cell transplantation (HSCT) for multiple sclerosis ( MS) were initiated, based on results of experimental transplantation in animal models of multiple sclerosis and clinical observations in patients treated concomitantly for malignant disease. PATIENTS:Eigh...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00415-002-0800-7
更新日期:2002-08-01 00:00:00
abstract::In paralytic shellfish poisoning a mollusc contaminated with a toxin (saxitoxin) causes a potentially lethal disease, clinically characterised by gastrointestinal and neurological symptoms, of which possible respiratory depression is the most serious. The toxin acts by blocking the sodium channels. We report 9 Portugu...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050241
更新日期:1998-08-01 00:00:00
abstract:INTRODUCTION:The present study aimed to survey the prevalence of prodromal symptoms of Parkinson's disease (PD) in Japanese health checkup examinees, for identifying at-risk subjects. METHODS:We conducted a questionnaire survey of annual health checkup examinees without neurological symptoms using the following self-r...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09714-6
更新日期:2020-05-01 00:00:00
abstract:BACKGROUND:Body weight reduction after disease onset is an independent predictor of survival in amyotrophic lateral sclerosis (ALS), but significance of weight variation after diagnosis remains to be established. OBJECTIVE:To investigate weight variation after diagnosis and its prognostic significance in patients with...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09276-2
更新日期:2019-06-01 00:00:00
abstract:BACKGROUND:Myelin oligodendrocyte glycoprotein immunoglobulin G associated optic neuritis (MOG-ON) is a recently described entity. Recent studies have shown that MOG-ON has a more severe clinical presentation than classic optic neuritis (ON). OBJECTIVE:This study aimed to define morphological characteristics of MOG-ON...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10097-x
更新日期:2021-01-01 00:00:00
abstract::Alien limb syndrome following stroke within the territory of the posterior cerebral artery is exceedingly rare. A right-handed female experienced left homonymous hemianopia, visuospatial neglect, and proprioceptive loss of her left hemi-body. She experienced unintended, involuntary movements of her left arm and hand, ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09543-2
更新日期:2020-01-01 00:00:00
abstract::Untreated sleep disorders may contribute to secondary causes of uncontrolled hypertension, cardiovascular disease (CVD), and stroke. Restless legs syndrome, or Willis-Ekbom Disease (RLS/WED), is a common sensorimotor disorder with a circadian rhythmicity defined by an uncontrollable urge to move the legs that worsens ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-013-7065-1
更新日期:2014-06-01 00:00:00
abstract:INTRODUCTION:Duchenne muscular dystrophy (DMD) is induced by a wide spectrum of mutations such as exon deletions, duplications and small mutations in the dystrophin gene. This is the first study on the mutational spectrum in a cohort of DMD children from India, with an emphasis to compare the mutations in familial and ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09380-3
更新日期:2019-09-01 00:00:00
abstract::Fatigue is a frequent and often severe symptom in multiple sclerosis. Pathogenic mechanisms proposed for fatigue include the release of proinflammatory cytokines, which is thought to have an important effect on changes in the blood-brain barrier (BBB). To investigate whether fatigue is related to BBB disruption we stu...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s004150050382
更新日期:1999-06-01 00:00:00
abstract:BACKGROUND:The aim of study was to demonstrate that the first three injections of botulinum neurotoxin type A (BoNT/A) appear to be less effective in botulinum toxin naïve patients with idiopathic cervical dystonia (CD) with mild symptoms and low severity scores (TSUI-scores) at onset of BoNT/A-therapy compared to pati...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10128-7
更新日期:2021-01-01 00:00:00
abstract::Intravenous immunoglobulins (IVIg) are effective for treating chronic inflammatory demyelinating polyneuropathy (CIDP), although treatment needs are variable and need to be individualized. Dose and frequency requirements are not currently predictable in advance. In Guillain-Barré syndrome, IVIg interpatient pharmacoki...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6938-7
更新日期:2013-08-01 00:00:00
abstract:OBJECTIVE:The variants of primary progressive aphasia (PPA) are predominantly diagnosed on the basis of specific profiles of language impairments. Deficits in other cognitive domains and their evolution over time are less well documented. This study examined the cognitive profiles of the PPA variants over time and dete...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10382-9
更新日期:2021-01-08 00:00:00
abstract::Functional changes in the organisation of neuronal circuitries are generally used to explain parkinsonian motor symptoms and levodopa-induced dyskinesias. Based on information from histology and neurophysiological microrecordings of specific basal ganglia nuclei, the most widely accepted scheme is based on a central l...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/pl00007765
更新日期:2000-04-01 00:00:00