Abstract:
:It is now 10 years since the first report of mutations in the presenilin genes that were deterministic for familial autosomal dominant Alzheimer's disease. The most common of these mutations occurs in the presenilin-1 gene (PSEN1) located on chromosome 14. In the ensuing decade, more than 100 PSEN1 mutations have been described. The emphasis of these reports has largely been on the novelty of the mutations and their potential pathogenic consequences rather than detailed clinical, neuropsychological, neuroimaging and neuropathological accounts of patients with the mutation. This article reviews the clinical phenotypes of reported PSEN1 mutations, emphasizing their heterogeneity, and suggesting that other factors, both genetic and epigenetic,must contribute to disease phenotype.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Larner AJ,Doran Mdoi
10.1007/s00415-005-0019-5keywords:
subject
Has Abstractpub_date
2006-02-01 00:00:00pages
139-58issue
2eissn
0340-5354issn
1432-1459journal_volume
253pub_type
杂志文章,评审abstract:BACKGROUND:The epidemiology of paraneoplastic neurological syndromes (PNS) remains to be defined. We present here the first population-based incidence study and report the clinical spectrum and antibody profile of PNS in a large area in Northeastern Italy. METHODS:We performed a 9-year (2009-2017) population-based epi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09544-1
更新日期:2020-01-01 00:00:00
abstract::X-linked adrenoleukodystrophy (XALD), a neurological disorder caused by mutations in the peroxisomal membrane protein gene ABCD1, presents as a rapidly progressing, inflammatory cerebral demyelination (cerebral cases) or a slowly progressing, distal axonopathy (non-cerebral cases). Specific ABCD1 defects do not explai...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6371-8
更新日期:2012-07-01 00:00:00
abstract:INTRODUCTION:Fabry disease (FD) is an X-linked lysosomal storage disorder resulting in vascular glycosphingolipid accumulation and increased stroke risk. MRI findings associated with FD include white matter hyperintensities (WMH) and cerebral microbleeds (CMBs), suggesting the presence of cerebral small vessel disease....
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10209-7
更新日期:2020-10-19 00:00:00
abstract::The neutrotrophins stimulate survival and differentiation of a range of target neurons. A wealth of evidence suggests that central cholinergic neurons depend on nerve growth factor (NGF) for trophic support. Grafts of NGF-producing cells rescue axotomized basal forebrain cholinergic neurons and reduce cholinergic cell...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF00939231
更新日期:1994-12-01 00:00:00
abstract::We report a case of polycythemia vera with chorea in which the brain metabolism and dopamine system were investigated using 2-[(18)F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) and (99m)Tc-labeled tropane dopamine transporter ((99m)Tc-TRODAT-1) single photon emission computed tomography (SPECT). Al...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6069-y
更新日期:2011-11-01 00:00:00
abstract:BACKGROUND:Persistent postural perceptual dizziness (PPPD) is a common chronic condition presenting in neurology and neuro-otology clinics. Symptoms lie on a spectrum in the general population. The cause is unknown and thought to involve interactions between visual and vestibular systems, but symptoms also correlate wi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09817-0
更新日期:2020-08-01 00:00:00
abstract::Rapid Eye Movement sleep behavior disorder (RBD) is a parasomnia causing sufferers to physically act out their dreams. These behaviors can disrupt sleep and sometimes lead to injuries in patients and their bed-partners. Clonazepam and melatonin are the first-line pharmacological treatment options for RBD based on dire...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-020-10353-0
更新日期:2021-01-07 00:00:00
abstract::The history of our understanding of the pathogenesis and pathophysiology of multiple sclerosis are reviewed in the context of Charcot's contribution. The implications for treatment of the new knowledge gained from studies during life of pathology and pathogenesis (by MRI) and pathophysiology (by evoked potentials) are...
journal_title:Journal of neurology
pub_type: 传,历史文章,杂志文章
doi:10.1007/BF00838443
更新日期:1993-01-01 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:BACKGROUND:Contactin-associated protein-like 2 (CASPR2) autoantibody disease has a variable clinical phenotype. We present a case report and performed a systematic review of the literature to summarize: (1) the clinical phenotype of patients with CASPR2 antibodies, (2) the findings in neurological investigations, and (...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09686-2
更新日期:2020-04-01 00:00:00
abstract::Demographic and clinical features and data on medical history and prior environmental exposure collected during an epidemiological long-term study of multiple sclerosis (MS) were tested for their possible prognostic value. Fifty-two benign MS patients were compared with 29 patients having a malignant course. A primary...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00862981
更新日期:1992-02-01 00:00:00
abstract:BACKGROUND:Thymoma is frequently associated with paraneoplastic diseases (PDs), most commonly with myasthenia gravis (MG). This association is thought to depend on thymoma's capacity to produce and export T lymphocytes. OBJECTIVE:(1) To determine the frequency and characteristics of thymoma-associated PDs other than M...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0429-z
更新日期:2007-06-01 00:00:00
abstract::Multiple system atrophy and progressive supranuclear palsy are disabling neurodegenerative disorders, also known as atypical parkinsonian syndromes. Currently, no health economic evaluations of these diseases are available. The objective of this study was to evaluate disease-related costs in German patients with multi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6028-7
更新日期:2011-10-01 00:00:00
abstract:OBJECTIVE:Determine toxicity and efficacy of autologous hematopoietic stem cell transplantation (HSCT) for patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who are dependent on intravenous immunoglobulins or plasmapheresis. METHODS:Unselected peripheral blood stem cells were re-infused on...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10010-6
更新日期:2020-11-01 00:00:00
abstract::To analyze the in vivo biological effect of anti-interferon beta (IFN-beta) neutralizing antibodies (NABs), blood concentrations of neopterin, beta2microglobulin (Beta2-MG), mRNA-dependent myxovirusresistant protein A (MxA) and dsRNA-dependent protein kinase (PKR) were measured before (predose) and 24 hours after (pos...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-006-0332-7
更新日期:2007-05-01 00:00:00
abstract::We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke. The diagnosis was confirmed by cerebral angiogram and...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00936890
更新日期:1995-02-01 00:00:00
abstract::Patients with multiple system atrophy (MSA) often have evidence of compromised gastrointestinal motility. Ghrelin is a gut hormone that influences gastrointestinal motility in humans. The aim of this study was to determine whether ghrelin secretion is affected in MSA patients, and to investigate the relation between g...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6944-9
更新日期:2013-08-01 00:00:00
abstract::Several reports in the literature describe the effects of low-dose (5 mg/kg/day) idebenone in significantly reducing cardiac hypertrophy in patients with Friedreich ataxia. However, the effects of idebenone on neurological function have not been reliably determined in these studies; when neurological parameters were r...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-009-1008-x
更新日期:2009-03-01 00:00:00
abstract::Our knowledge of the vestibular sensory system, its functional significance for gaze and posture stabilization, and its capability to ensure accurate spatial orientation perception and spatial navigation has greatly benefitted from experimental approaches using a variety of vertebrate species. This review summarizes t...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-015-7909-y
更新日期:2016-04-01 00:00:00
abstract::Whereas the effect of interferons (IFNs) on magnetic resonance imaging (MRI) outcome measures in patients with multiple sclerosis (MS) has been convincingly shown, little work has been done to define the between-patient heterogeneity of treatment response. Our aim was to assess the distribution of the effect of IFNbet...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1007/s00415-005-0885-x
更新日期:2005-12-01 00:00:00
abstract::Gilles de la Tourette's syndrome (GTS) and restless legs syndrome (RLS) are two different neurological disorders with common features such as involuntary movements. In both disorders a disturbance of the dopaminergic system has been considered among other possible mechanisms. Since periodic leg movements (PLMS) during...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050136
更新日期:1997-08-01 00:00:00
abstract::Risk of relapse after natalizumab (NAT) cessation and switch to dimethyl fumarate (DMF) is unknown. The objective of this paper is to identify the risk and associated risk factors for relapse after switching from NAT to DMF in relapsing-remitting multiple sclerosis. Patients (n = 30) were treated with NAT for ≥12 mont...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8162-8
更新日期:2016-08-01 00:00:00
abstract::Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we previously described additional childhood-onset episodic ataxia. Here, we corroborate and detail the latter phenotype in three further cases. We describe the clinical characteristics, identify the ca...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7984-0
更新日期:2016-02-01 00:00:00
abstract::Temporal lobe epilepsy has been usually associated with progressive brain atrophy due to neuronal cell loss. However, recent animal models demonstrated a dual effect of epileptic seizures with initial enhancement of hippocampal neurogenesis followed by abnormal astrocyte proliferation and neurogenesis depletion in the...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09546-z
更新日期:2019-12-01 00:00:00
abstract:OBJECTIVE:Crossed aphasia (CA), usually referred to as an acquired language disturbance, is caused by a lesion in the cerebral hemisphere ipsilateral to the dominant hand, and the exact mechanism is not clear. The development of handedness is influenced by education and training and the impact of habitualization, while...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8901-0
更新日期:2018-07-01 00:00:00
abstract::The transcranial activation and the conduction properties of corticospinal and callosal neurons were investigated in 12 early-treated adolescents (aged 17.3, SD 3.5 years; range 14-27 years) with phenylketonuria (PKU) by focal transcranial magnetic stimulation (fTMS) of the motor cortex. The patients had no functional...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050301
更新日期:1999-01-01 00:00:00
abstract::Posterior leukoencephalopathy typically denotes neurotoxicity from immunosuppressive agents, malignant hypertension or eclampsia. It has not been documented in central nervous system angiitis. We present three cases associated with isolated cerebral angiitis after review of all cases of isolated CNS angiitis from 1998...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-003-1021-4
更新日期:2003-04-01 00:00:00
abstract::Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis of unknown etiology that affects multiple organs. We report 6 cases of ECD with neurological involvement and neuroradiological abnormalities on brain MRI. A literature review revealed 60 other cases of ECD with neurological involvement. We t...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-006-0160-9
更新日期:2006-10-01 00:00:00
abstract::Evaluating freezing of gait (FOG) and quantifying its severity in patients with Parkinson's disease (PD) is challenging; objective assessment is not sufficiently established. We aimed to improve the ability to objectively evaluate FOG severity by investigating the value of measuring the duration of the test and its co...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09856-7
更新日期:2020-09-01 00:00:00
abstract::Botulinum neurotoxin (BoNT) is an effective treatment for cervical dystonia (CD). Long-term changes of several variables, including the dose of BoNT, in these patients is largely unknown. We reviewed the clinical charts of 275 patients with CD treated with BoNT type A (BoNT-A) for at least 5 years since 1989 at ten te...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-010-5880-1
更新日期:2011-06-01 00:00:00