Abstract:
:The primary cause of neurological syndromes with antibodies against glutamic acid decarboxylase 65 (GAD65-Ab) is unknown, but genetic predisposition may exist as it is suggested by the co-occurrence in patients and their relatives of other organ-specific autoimmune diseases, notably type 1 diabetes mellitus (T1DM), and by the reports of a few familial cases. We analyzed the human leukocyte antigen (HLA) in 32 unrelated patients and compared them to an ethnically matched sample of 137 healthy controls. Four-digit resolution HLA alleles were imputed from available Genome Wide Association data, and full HLA next-generation sequencing-based typing was also performed. HLA DQA1*05:01-DQB1*02:01-DRB1*03:01 was the most frequent class II haplotype in patients (13/32, 41%). DQB1*02:01 was the only allele found to be significantly more common in patients than in controls (20/137, 15%, corrected p = 0.03, OR 3.96, 95% CI [1.54-10.09]). There was also a trend towards more frequent DQA1*05:01 among patients compared to controls (22/137, 16%; corrected p = 0.05, OR 3.54, 95% CI [1.40-8.91]) and towards a protective effect of DQB1*03:01 (2/32, 6% in patients vs. 42/137, 31% in control group; corrected p = 0.05, OR 0.15, 95% CI [0.02-0.65]). There was no significant demographic or clinical difference between DQ2 and non-DQ2 carriers (p > 0.05). Taken together, these findings suggest a primary DQ effect on GAD65-Ab neurological diseases, partially shared with other systemic organ-specific autoimmune diseases such as T1DM. However, it is likely that other non-HLA loci are involved in the genetic predisposition of GAD65-Ab neurological syndromes.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Muñiz-Castrillo S,Ambati A,Dubois V,Vogrig A,Joubert B,Rogemond V,Picard G,Lin L,Fabien N,Mignot E,Honnorat Jdoi
10.1007/s00415-020-09782-8subject
Has Abstractpub_date
2020-07-01 00:00:00pages
1906-1911issue
7eissn
0340-5354issn
1432-1459pii
10.1007/s00415-020-09782-8journal_volume
267pub_type
杂志文章abstract::Prognosis of patients with ischemic stroke requiring mechanical ventilation (MV) has been reported to be poor. However, longterm survival and functional outcome have scarcely been studied and nothing is known about the prevalence of cognitive impairment or depression in survivors and their quality of life (QoL). We id...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-005-0711-5
更新日期:2005-06-01 00:00:00
abstract::Fatigue is a common symptom of multiple sclerosis (MS) even in the early phases of the disease, when neurological disability is usually still not present. To investigate the pathophysiology of fatigue we compared neurophysiological (motor evoked potentials of the four limbs, MEPs) and brain magnetic resonance imaging ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150070148
更新日期:2000-07-01 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::During a period of 42 months, we studied the prevalence of epilepsy in a specific health district, composing by four towns with 98,405 inhabitants older than 10 years. This has been accomplished by a two-phase cross-sectional study. The prevalence rate observed was 4.12/1000 inhabitants for all types of epilepsy. No s...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150170091
更新日期:2001-09-01 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::Idiopathic hypereosinophilic syndrome (IHES) is a primary haematological condition characterised by persistent, otherwise unexplained hypereosinophilia sufficient to cause organ damage. Various neurological complications are reported, but very few have mentioned CNS pathology and none has included CNS vasculitis. Our ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7720-9
更新日期:2015-05-01 00:00:00
abstract::A patient with haemorrhage in the right tegmentum of the pons demonstrated ipsilateral disturbance of taste on both the anterior two-thirds and posterior one-third of the tongue. The contralateral medial lemniscus was not disturbed, contrary to the early descriptions that the secondary gustatory neurons from the nucle...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313454
更新日期:1983-01-01 00:00:00
abstract::Fatigue is an important contributor to quality of life in patients who survive aneurysmal subarachnoid hemorrhage (SAH), but the determinants of this fatigue are unclear. We assessed the occurrence of fatigue 1 year after SAH and its relation to physical or cognitive impairment, passive coping, and emotional problems,...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5891-y
更新日期:2011-06-01 00:00:00
abstract::To further evaluate (1) transcranial sonography (TCS) for (pre)clinical diagnosis of Parkinson's disease (PD) and (2) to examine asymptomatic carriers of Parkin mutations we investigated substantia nigra (SN) hyperechogenicity in PD patients and unaffected subjects with and without Parkin mutations. The area (aSN) of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-007-0567-y
更新日期:2007-10-01 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::Nystagmus is a rhythmical rotation of the eyeball. Its characteristics can be defined mathematically by the axis of rotation and the angular velocity around this axis. We analysed the axis of rotation for the nystagmus in benign paroxysmal positional vertigo (BPPV) to elucidate its pathophysiology. Thirteen patients w...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0905-z
更新日期:2002-12-01 00:00:00
abstract::We evaluated the health economic burden of patients with Gilles de la Tourette's syndrome (GTS) in Germany over a 3-month observation period. Direct and indirect costs were evaluated in 200 outpatients with GTS (mean age 35 +/- 11.5 years) in Germany. Patients were recruited from three outpatient departments that spec...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5458-y
更新日期:2010-07-01 00:00:00
abstract:BACKGROUND:Classifying and diagnosing peripheral vestibular disorders based on their symptoms is challenging due to possible symptom overlap or atypical clinical presentation. To improve the diagnostic trajectory, gadolinium-based contrast-enhanced magnetic resonance imaging of the inner ear is nowadays frequently used...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-020-10278-8
更新日期:2020-12-01 00:00:00
abstract::Parkinson's disease (PD) is a progressive neurological disorder characterized by motor symptoms as well as severe deficits in olfactory function and microstructural changes in olfactory brain regions. Because of the evidence of asymmetric neuropathological features in early-stage PD, we examined whether lateralized mi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8555-3
更新日期:2017-07-01 00:00:00
abstract::Mutations in C19orf12 have been recently identified as the molecular genetic cause of a subtype of neurodegeneration with brain iron accumulation (NBIA). Given the mitochondrial localization of the gene product the new NBIA subtype was designated mitochondrial membrane protein-associated neurodegeneration. Frequent fe...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-012-6521-7
更新日期:2012-11-01 00:00:00
abstract::In contrast to other neurodegenerative diseases, sporadic Creutzfeldt-Jakob disease (sCJD) is rarely diagnosed in patients older than 75 years. Data describing the characteristics of sCJD in the very old are rare and inconclusive. Therefore, a historical cohort study was designed to evaluate clinical, cerebrospinal fl...
journal_title:Journal of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00415-014-7283-1
更新日期:2014-05-01 00:00:00
abstract::Acute relapses of multiple sclerosis (MS) are treated with intravenous methylprednisolone (IVMP), which speeds recovery from exacerbation. It is known that IVMP suppresses the immunological activation which occurs during an acute attack of MS. However, the specific target genes affected by this therapy remain obscure....
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-004-0516-y
更新日期:2004-10-01 00:00:00
abstract::Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) is a rare, autosomal recessive disorder caused by mutations in the gene encoding a mitochondrial aspartyl-tRNA synthetase, DARS2. The disease is characterized by progressive spastic ataxia and magnetic resonance imaging (MRI) sh...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6176-9
更新日期:2012-02-01 00:00:00
abstract:OBJECTIVE:Patients with classic ataxia-telangiectasia (A-T) generally die in the second or third decade of life. Clinical descriptions of A-T tend to focus on the symptoms at presentation. However, during the course of the disease, other symptoms and complications emerge. As long-term survivors with classic A-T develop...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09641-1
更新日期:2020-03-01 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::A recently developed technique is used to study the permeation of water through membranes of human erythrocyte ghosts. The method, based on the difference of the indices of refraction of H2O and D2O, is briefly described. Comparative measurements on erythrocyte ghosts from normal donors and from patients with Huntingt...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313655
更新日期:1984-01-01 00:00:00
abstract:OBJECTIVES:To estimate the socio-economic impact of multiple sclerosis (MS) in Italy. METHODS:Outpatients with MS were enrolled at 44 centres across Italy. Socio-demographic, clinical and resource utilization data were collected using a validated questionnaire. Each patient completed a weekly diary of expenses due to ...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/pl00007858
更新日期:2002-02-01 00:00:00
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::Motor neuron disease (MND) is a group of disorders in which there is degeneration of upper and lower motor neurons to a variable degree. Amyotrophic lateral sclerosis is the most frequent form of the disease, presenting with both upper and lower motor neuron involvement. Frequently, especially in the early stages of t...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s004150050397
更新日期:1999-07-01 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::Glucocorticoids are the standard of care for multiple sclerosis (MS) relapses, but the most desirable route of administration is still matter of debate. The aim of the study was to compare the efficacy and safety of oral versus intravenous steroids for treatment of acute relapses in patients with MS. Randomized or qua...
journal_title:Journal of neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00415-017-8505-0
更新日期:2017-08-01 00:00:00
abstract::The influence of portal-systemic shunting on maximal motor nerve conduction velocity (MCV) was analyzed in rats with portacaval shunts. At 3 and 8 weeks after the shunting there was a marked but transient fall in MCV. This was not prevented by colectomy. At 16 weeks the MCV had almost normalized, despite sustained por...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313181
更新日期:1980-01-01 00:00:00
abstract::In this work, we investigated motor network structure in patients affected by essential tremor (ET) with or without resting tremor, using probabilistic tractography of the cerebello-thalamo-basal ganglia-cortical loop. Twenty-five patients with ET, twenty-two patients with ET associated with resting tremor (rET), and ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8553-5
更新日期:2017-09-01 00:00:00
abstract::The effects of left- and right-sided hemispheric brain infarction on variability in circadian blood pressure and cardiovascular measures were investigated in 35 patients to test for asymmetry of the sympathetic consequences of stroke. No significant differences regarding age, size of infarction or extent and frequency...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00878874
更新日期:1995-05-01 00:00:00
abstract:BACKGROUND:The symptomatic treatment of myotonia and myalgia in patients with dystrophic and non-dystrophic myotonias is often not satisfactory. Some patients anecdotally report symptoms' relief through consumption of cannabis. METHODS:A combination of cannabidiol and tetrahydrocannabinol (CBD/THC) was prescribed as c...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09593-6
更新日期:2020-02-01 00:00:00