Abstract：
:Cognitive features, which begin before manifestation of the motor features, are an integral part of Huntington's disease and profoundly affect quality of life. A number of neuropsychological batteries have been used to assess this aspect of the condition, many of which are difficult to administer and time consuming, especially in advanced disease. We, therefore, investigated a simple and practical way to monitor cognition using the Addenbrooke's Cognitive Examination-Revised (ACE-R) in 126 manifest Huntington's disease patients, 28 premanifest gene carriers and 21 controls. Using this test, we demonstrated a selective decrease in phonemic, but not semantic, fluency in premanifest participants Cognitive decline in manifest Huntington's disease varied according to disease severity with extensive cognitive decline observed in early-stage Huntington's disease patients, indicating that this would be an optimal stage for interventions designed to halt cognitive decline, and lesser changes in the advanced cases. We next examined cognitive performance in patients prescribed antidopaminergic drugs as these drugs are known to decrease cognition when administered to healthy volunteers. We paradoxically found that these drugs may be beneficial, as early-stage Huntington's disease participants in receipt of them had improved attention and Mini-Mental State Examination scores. In conclusion, this is the first study to test the usefulness of the ACE-R in a Huntington's disease population and demonstrates that this is a brief, inexpensive and practical way to measure global cognitive performance in clinical practice with potential use in clinical trials.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Begeti F,Tan AY,Cummins GA,Collins LM,Guzman NV,Mason SL,Barker RAdoi
10.1007/s00415-013-7061-5subject
Has Abstractpub_date
2013-11-01 00:00:00pages
2777-85issue
11eissn
0340-5354issn
1432-1459journal_volume
260pub_type
杂志文章abstract：BACKGROUND AND OBJECTIVE:An optimal management of vascular risk factors, associated with antithrombotic drugs and carotid surgery when appropriate, reduces the risk of a new vascular event after stroke. Although secondary prevention is not optimal in many patients in practice, the question of whether there is an improv...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0591-8
更新日期：2005-01-01 00:00:00
abstract：OBJECTIVE:Spinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort (n = 80) based on laboratory markers for neuromuscular, metabolic, and endocrine status, and thus provide a basis for ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-018-8790-2
更新日期：2018-05-01 00:00:00
abstract：:Production of reactive oxygen species after cerebral blood flow disruption may enhance tissue damage through multiple molecular pathways. Changes in nitric oxide (NO) metabolism and oxidative stress status were investigated in 47 patients with ischemic stroke by measuring plasma nitric oxide (NO) and peroxynitrite (ON...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-007-0700-y
更新日期：2008-01-01 00:00:00
abstract：:Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreic...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-002-0902-2
更新日期：2002-11-01 00:00:00
abstract：:Mitochondrial diseases are due to impairment of the mitochondrial respiratory chain. A plausible pathogenic mechanism leading to cellular dysfunction and phenotypic expression is oxidative stress, but there are surprisingly few clinical studies on this subject. Glutathione (GSH) deficiency has been reported in mitocho...
journal_title：Journal of neurology
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00415-009-5409-7
更新日期：2010-05-01 00:00:00
abstract：:Although silent infarcts (SIs) are frequent in stroke patients, their clinical significance remains controversial, and their effect on stroke outcome remains unclear. This study evaluated the prevalence of SI on computed tomography, associated factors, and the effect on outcome in stroke patients. We studied 202 conse...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s004150170200
更新日期：2001-04-01 00:00:00
abstract：:The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impair...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313645
更新日期：1984-01-01 00:00:00
abstract：:The aim of this study was to assess the cognitive functions of patients with spinocerebellar ataxia type 6 (SCA6). We examined 13 patients with genetically confirmed SCA6 and 13 healthy control subjects matched for age, years of education, global cognitive status, and intellectual ability. We administered verbal memor...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-016-8344-4
更新日期：2017-02-01 00:00:00
abstract：:Applying microarray technology to identify new diagnostic and prognostic markers in peripheral blood cells (PBC) after therapeutic intervention opens great perspectives regarding patient subclassification. Three recombinant products of the pleiotropic agent interferon beta (rIFN-beta) are available for disease modifyi...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-008-6010-1
更新日期：2008-12-01 00:00:00
abstract：:Multi-modality evoked potentials and computed cranial tomography (CT) were performed in ten patients with Wilson's disease to determine if any of these studies would correlate reliably with neurologic status. While all four patients with CT abnormality had neurologic signs, two additional patients with neurologic find...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314035
更新日期：1985-01-01 00:00:00
abstract：:Coenzyme Q10 (CoQ) was measured in serum and muscle of 17 patients with ophthalmoplegia plus (including 5 patients with Kearns-Sayre syndrome), in muscle of 9 patients with neurogenic atrophies, 5 patients with myositis, and 5 patients with progressive muscular dystrophies (including 1 patient with oculopharyngeal dys...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314404
更新日期：1989-02-01 00:00:00
abstract：:Neuromyelitis optica (NMO) is an uncommon, demyelinating disease that causes long-term disability in adults. Though much has recently been learned about its pathogenesis, there are still only a few studies regarding the epidemiology of NMO. The aim of the study was to describe the epidemiology of NMO among adults in t...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-013-6926-y
更新日期：2013-08-01 00:00:00
abstract：:We investigated the muscle strength and motor unit (MU) territory of five patients with postpolio syndrome (PPS), six stable patients with prior poliomyelitis, and five healthy volunteers. The MU territory was assessed by measuring amplitudes of motor unit potentials (MUPs) recorded by the macro EMG technique. The inv...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00920572
更新日期：1994-12-01 00:00:00
abstract：:Early identification of cardiogenic vertigo (CV) is necessary to prevent serious complications of cardiovascular diseases. However, the literature is limited to case reports without detailed clinical features or diagnostic criteria. The aim of this study was to define characteristics of CV and propose diagnostic crite...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-10252-4
更新日期：2020-10-06 00:00:00
abstract：BACKGROUND:Late-onset Pompe disease (LOPD) is a rare, metabolic disease primarily affecting the musculoskeletal and respiratory systems. Forced vital capacity (FVC) is commonly used to measure pulmonary function; however, associations between FVC and other LOPD outcomes remain unclear. METHODS:A systematic literature ...
journal_title：Journal of neurology
pub_type： 杂志文章,meta分析
doi：10.1007/s00415-019-09401-1
更新日期：2019-09-01 00:00:00
abstract：:A comparative study of clinical and morphological findings in three fatal cases of acute necrotizing hemorrhagic encephalomyelitis (ANHE) and hyperacute experimental allergic encephalomyelitis (HEAE) in rhesus monkeys is reported. In all cases ANHE was characterized clinically by definite prodromal respiratory infecti...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313109
更新日期：1979-08-01 00:00:00
abstract：:Freezing of gait (FOG) in Parkinson's disease (PD) likely results from dysfunction within a complex neural gait circuitry involving multiple brain regions. Herein, cerebellar activity is increased in patients compared to healthy subjects. This cerebellar involvement has been proposed to be compensatory. We hypothesize...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-017-8479-y
更新日期：2017-05-01 00:00:00
abstract：:The safety and efficacy of intravenous thrombolysis (IVT) in dissection-related ischemic stroke (DRIS) has not been established. We sought to determine safety and recovery rates of IVT in DRIS using prospective, international, multicenter data and by conducting a comprehensive meta-analysis of reported case series. We...
journal_title：Journal of neurology
pub_type： 杂志文章,meta分析,多中心研究
doi：10.1007/s00415-015-7829-x
更新日期：2015-09-01 00:00:00
abstract：:Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s004150200069
更新日期：2002-05-01 00:00:00
abstract：:We conducted an open-labeled clinical trial of interferon beta-1b (IFNB) treatment in 20 patients with primary progressive multiple sclerosis (PPMS) and longitudinally monitored autoantibodies against double-stranded DNA (dsDNA), thyroid peroxidase (TPO),myelin basic protein (MBP), myelin oligodendrocyte glycoprotein ...
journal_title：Journal of neurology
pub_type： 临床试验,杂志文章
doi：10.1007/s00415-004-0580-3
更新日期：2004-12-01 00:00:00
abstract：:Presymptomatic studies in ALS have consistently captured considerable disease burden long before symptom manifestation and contributed important academic insights. With the emergence of genotype-specific therapies, however, there is a pressing need to address practical objectives such as the estimation of age of sympt...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-020-10289-5
更新日期：2020-10-31 00:00:00
abstract：:The effect of local cooling was studied in 28 patients with myastenia gravis. We stimulated the ulnar nerve with single stimuli and trains at 3/s for 2s and at 50/s for 1.5 s. The compound muscle action potential (MAP), the muscle twitch and the isometric tetanic force of the adductor pollicis were registered. 1. At 3...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00314051
更新日期：1977-11-01 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：:Recent years have seen substantial news and updates in the genetics and diagnosis of schwannomas, even a new hereditary disease with schwannomas; Schwannomatosis has been defined. These developments have consequently led to better evaluation of the incidence of schwannomas. Although there has also been progress in the...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-006-0347-0
更新日期：2006-12-01 00:00:00
abstract：:The long-duration response (LDR) to levodopa is an important component of the therapeutic response to the drug in Parkinson's disease (PD). Some characteristics are peculiar: it is independent from peripheral pharmacokinetics of levodopa, but it is dependent on the intervals between doses and on the size of each dose....
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-010-5731-0
更新日期：2010-11-01 00:00:00
abstract：:Although the beneficial effect of subcutaneous injections of botulinum toxin type A (BTX-A) is well known in both blepharospasm and hemifacial spasm, the position of the injection sites around the orbicularis oculi may influence the effectiveness and side effects. Here we report results of preseptal and pretarsal BTX-...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/pl00007849
更新日期：2002-01-01 00:00:00
abstract：:Post-concussion symptoms (PCS) (such as headaches, irritability, anxiety, dizziness, fatigue and impaired concentration) are frequently experienced by patients who have sustained a minor head injury (MHI). The post-concussion syndrome has been defined as a clinical state where 3 or more symptoms persist for more than ...
journal_title：Journal of neurology
pub_type： 临床试验,杂志文章
doi：10.1007/s004150050254
更新日期：1998-09-01 00:00:00
abstract：:In refractory temporal lobe epilepsy (TLE) temporal lobe structures and functions are continuously or intermittently affected by abnormal brain electrical events, noxious neurochemical agents, and metabolic disturbances. There is conflicting evidence regarding the relationship between the duration of refractory mesial...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s004150050484
更新日期：1999-10-01 00:00:00
abstract：:Fabry disease (FD) is a rare inherited disorder of the metabolism, associated with renal, cardiac, and cerebrovascular complications. Ischemic and hemorrhagic stroke in FD present with a similar proportion to that observed in the general population, but usually at an early age. Ischemic stroke may result from cardiac ...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-011-6278-4
更新日期：2012-06-01 00:00:00
abstract：:Out of 72 patients treated for Borrelia burgdorferi meningopolyradiculoneuritis facial palsies occurred in 22 (12 unilateral, 10 bilateral). Eleven of the 32 pareses were initially complete. By the follow-up examination patients had recovered well with slight sequelae in 22% without cosmetically disfiguring pareses or...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00838171
更新日期：1993-05-01 00:00:00
