当前位置： SCI文献检索 > EUROPEAN JOURNAL OF NEUROLOGY期刊下所有文献 > Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.

Abstract：

OBJECTIVE:We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the literature. METHODS:A population of 2028 subjects (including 1053 patients with different subtypes of isolated dystonia and 975 healthy controls) from southern and central Spain was included. The genes TOR1A, THAP1 and GNAL were screened using a combination of high-resolution melting analysis and direct DNA resequencing. In addition, an extensive literature search to identify original articles (published before 10 August 2020) reporting mutations in TOR1A, THAP1 or GNAL associated to dystonia was performed. RESULTS:Pathogenic or likely pathogenic variants in TOR1A, THAP1 and GNAL were identified in 0.48%, 0.57% and 0.29% of our patients, respectively. Five patients carried the variation p.Glu303del in TOR1A. A very rare variant in GNAL (p.Ser238Asn) was found as a putative risk factor for dystonia. In the literature, variations in TOR1A, THAP1 and GNAL accounted for about 6%, 1.8% and 1.1% of published dystonia patients, respectively. CONCLUSIONS:There is a different genetic contribution to dystonia of these three genes in our patients (about 1.3% of patients) and in the literature (about 3.6% of patients), probably due the high proportion of adult-onset cases in our cohort. As regards age at onset, site of dystonia onset, and final distribution, in our population there is a clear differentiation between DYT-TOR1A and DYT-GNAL, with DYT-THAP1 likely to be an intermediate phenotype.

journal_name

Eur J Neurol

journal_title

European journal of neurology

authors

Gómez-Garre P,Jesús S,Periñán MT,Adarmes A,Alonso-Canovas A,Blanco-Ollero A,Buiza-Rueda D,Carrillo F,Catalán-Alonso MJ,Del Val J,Escamilla-Sevilla F,Espinosa-Rosso R,Fernández-Moreno MC,García-Moreno JM,García-Ruiz PJ,Giaco

doi

10.1111/ene.14638

subject

Has Abstract

pub_date

2020-11-11 00:00:00

eissn

1351-5101

issn

1468-1331

pub_type

杂志文章

相关文献

EUROPEAN JOURNAL OF NEUROLOGY文献大全
  • Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A).

    abstract：:Charcot-Marie-Tooth disease (CMT) has been classified into two types: demyelinating forms (CMT1) and axonal forms (CMT2). Mutations in the CMT2A locus have been linked to the KIF1B and the mitofusin 2 (MFN2) genes. Here, we report a German patient with CMT2 with an underlying spontaneous mutation (c.281G-->A) in the M...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2006.01688.x

    authors： Neusch C,Senderek J,Eggermann T,Elolff E,Bähr M,Schneider-Gold C

    更新日期：2007-05-01 00:00:00

  • Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.

    abstract：BACKGROUND:X-linked Charcot-Marie-Tooth disease (CMTX), caused by mutations in the gene encoding connexin32, is the second most common form of inherited demyelinating neuropathy, next to CMT 1A, and accounts for 10-20% of all hereditary demyelinating neuropathies. AIMS OF THE STUDY:To describe clinical and electrophys...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2008.02263.x

    authors： Mazzeo A,Di Leo R,Toscano A,Muglia M,Patitucci A,Messina C,Vita G

    更新日期：2008-10-01 00:00:00

  • Cognitive impairments associated with morphological changes in cortical and subcortical structures in multiple system atrophy of the cerebellar type.

    abstract：BACKGROUND AND PURPOSE:Patients with the cerebellar variant of multiple system atrophy (MSA-C) often show cognitive deficits in various cognitive domains. The association between morphometric changes in cortical and subcortical structures and cognitive impairments in MSA-C were investigated to explore the neural correl...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/ene.12796

    authors： Lee MJ,Shin JH,Seoung JK,Lee JH,Yoon U,Oh JH,Jung DS,Kim EJ

    更新日期：2016-01-01 00:00:00

  • Low ankle-brachial index is a predictive factor for initial severity of acute ischaemic stroke.

    abstract：BACKGROUND:  A low ankle-brachial index (ABI) is predictive of peripheral arterial disease (PAD). For unknown reasons, patients with PAD demonstrate higher vascular mortality during follow-up than do those without. Initial stroke severity is a strong predictor of long-term outcome and may be different between patients ...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2011.03652.x

    authors： Lee DH,Kim J,Lee HS,Cha MJ,Kim YD,Nam HS,Nam CM,Heo JH

    更新日期：2012-06-01 00:00:00

  • Increased incidence of Guillain-Barré syndrome after surgery.

    abstract：BACKGROUND AND PURPOSE:Antecedent surgery has been described to trigger Guillain-Barré syndrome (GBS), but its evidence is poor and based on case reports only. METHODS:We performed a retrospective analysis of 63 patients with GBS admitted to the University Hospital Basel and University Children's Hospital Basel from J...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2012.03730.x

    authors： Gensicke H,Datta AN,Dill P,Schindler C,Fischer D

    更新日期：2012-09-01 00:00:00

  • Association study of functional polymorphisms in serotonin transporter gene with temporal lobe epilepsy in Han Chinese population.

    abstract：BACKGROUND AND PURPOSE:Serotoninergic dysfunction was reported to be involved in aetiology of temporal lobe epilepsy (TLE). Serotonin (5-HT) is actively cleared from synaptic cleft by serotonin transporter (5-HTT). We investigated the association between three common polymorphisms of 5-HTT gene, which may influence gen...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2011.03521.x

    authors： Li J,Lin H,Zhu X,Li L,Wang X,Sun W,Wu X,Liu A,Niu F,Wang Y,Liu Y

    更新日期：2012-02-01 00:00:00

  • Assessing the effectiveness of subjective cognitive decline plus criteria in predicting the progression to Alzheimer's disease: an 11-year follow-up study.

    abstract：BACKGROUND AND PURPOSE:Subjective cognitive decline (SCD) is a self-experienced decline in cognitive capacity with normal performance on standardized cognitive tests and has been shown to increase the risk of Alzheimer's disease (AD). SCD could also be related to other conditions such as normal aging, psychiatric, neur...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/ene.14167

    authors： Mazzeo S,Padiglioni S,Bagnoli S,Carraro M,Piaceri I,Bracco L,Nacmias B,Sorbi S,Bessi V

    更新日期：2020-05-01 00:00:00

  • Neurophysiological study of critical illness polyneuropathy and myopathy in mechanically ventilated children; additional aspects in paediatric critical illness comorbidities.

    abstract：BACKGROUND AND PURPOSE:Critical illness polyneuropathy and myopathy (CIP/CIM) is being increasingly recognized as a significant clinical problem in critically ill children especially if they have spent long periods in the intensive care unit. So the aim was to determine the frequency of CIP/CIM amongst mechanically ven...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/ene.13649

    authors： Thabet Mahmoud A,Tawfik MAM,Abd El Naby SA,Abo El Fotoh WMM,Saleh NY,Abd El Hady NMS

    更新日期：2018-07-01 00:00:00

  • Stroke in first-degree relatives of patients with cervical artery dissection.

    abstract：BACKGROUND AND PURPOSE:Patients with ischaemic stroke (IS) caused by a spontaneous cervical artery dissection (CeAD) worry about an increased risk for stroke in their families. The occurrence of stroke in relatives of patients with CeAD and in those with ischaemic stroke attributable to other (non-CeAD) causes were com...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/ene.12437

    authors： Kloss M,Grond-Ginsbach C,Pezzini A,Metso TM,Metso AJ,Debette S,Leys D,Dallongeville J,Caso V,Thijs V,Bersano A,Touzé E,Bonati LH,Tatlisumak T,Arnold ML,Lyrer PA,Engelter ST,Cervical Artery Dissection and Ischemic Stroke

    更新日期：2014-08-01 00:00:00

  • Cause of death in patients with dementia disorders.

    abstract：BACKGROUND:Investigations on cause of death may provide valuable information about life expectancy and on conditions of terminal dementia care, which perhaps can be ameliorated. METHODS:The autopsy reports were studied on all patients (n = 524; 55.3% females; median age 80 years) with a clinically and neuropathologica...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2008.02503.x

    authors： Brunnström HR,Englund EM

    更新日期：2009-04-01 00:00:00

  • The long-term functional status in patients with Guillain-Barré syndrome.

    abstract：BACKGROUND AND PURPOSE:The purpose of this study was to analyse the long-term impact of Guillain-Barré syndrome (GBS) on quality of life, and the relationship between clinical variables at disease onset and symptoms at follow-up to general health status. METHODS:Forty-two GBS patients were examined at median 6 years a...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2008.02311.x

    authors： Rudolph T,Larsen JP,Farbu E

    更新日期：2008-12-01 00:00:00

  • The assessment of depression in Parkinson's disease.

    abstract：BACKGROUND:Motor symptoms form the hallmark of Parkinson's Disease (PD), although features like depression are often present. Depression rating scales [e.g. Montgomery-Asberg Depression Rating Scale (MADRS)] used in PD measure affective, cognitive and somatic symptoms. An important clinical question is which items of t...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2008.02101.x

    authors： Koerts J,Leenders KL,Koning M,Bouma A,van Beilen M

    更新日期：2008-05-01 00:00:00

  • Glyceryl trinitrate induced headache in migraineurs - relation to attack frequency.

    abstract：:Glyceryl trinitrate, a prodrug of nitric oxide, induces a mild to moderate headache in healthy subjects, whilst migraineurs develop a more severe headache, resembling spontaneous migraine attacks. In order to investigate whether this increased nitric oxide sensitivity depends upon the frequency of spontaneously occurr...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1046/j.1468-1331.2000.00094.x

    authors： Christiansen I,Daugaard D,Lykke Thomsen L,Olesen J

    更新日期：2000-07-01 00:00:00

  • The high frequency of coeliac disease among children with neurological disorders.

    abstract：:In the present study we have explored antigliadin (AGA) and antireticulin (ARA) antibody tests for the serological screening for coeliac disease (CD) of 206 children with neurological disorders. IgA- or/and IgG-type AGA was discovered in 17 (8.3%) patients and IgA-type ARA in one (0.5%) patient. A small intestinal bio...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1046/j.1468-1331.2000.00130.x

    authors： Salur L,Uibo O,Talvik I,Justus I,Metsküla K,Talvik T,Uibo R

    更新日期：2000-11-01 00:00:00

  • A registry-based, case-control investigation of Parkinson's disease with and without cognitive impairment.

    abstract：:In approximately 40% of the patients, Parkinson's disease (PD) is complicated by cognitive impairment. The objective of this study was to evaluate the impact of cognitive impairment on disease severity and motor function in idiopathic PD patients. Forty-one PD patients with cognitive impairment (PD-CI) (Mini-Mental St...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2004.00826.x

    authors： Papapetropoulos S,Ellul J,Polychronopoulos P,Chroni E

    更新日期：2004-05-01 00:00:00

  • The causal role of smoking on the risk of headache. A Mendelian randomization analysis in the HUNT study.

    abstract：BACKGROUND AND PURPOSE:Headache has been associated with various lifestyle and psychosocial factors, one of which is smoking. The aim of the present study was to investigate whether the association between smoking intensity and headache is likely to be causal. METHOD:A total of 58 316 participants from the Nord-Trønde...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/ene.13675

    authors： Johnsen MB,Winsvold BS,Børte S,Vie GÅ,Pedersen LM,Storheim K,Skorpen F,Hagen K,Bjørngaard JH,Åsvold BO,Zwart JA

    更新日期：2018-09-01 00:00:00

  • Prescribing patterns of antiepileptic drugs in Italy: a nationwide population-based study in the years 2000-2005.

    abstract：:To evaluate prevalence of use and prescribing patterns of antiepileptic drugs (AEDs) in Italian general practice. Primary care data were obtained from the Health Search Database, a longitudinal observational database implemented by the Italian College of General Practitioners (GPs). We selected 465 061 subjects regist...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2007.01970.x

    authors： Savica R,Beghi E,Mazzaglia G,Innocenti F,Brignoli O,Cricelli C,Caputi AP,Musolino R,Spina E,Trifirò G

    更新日期：2007-12-01 00:00:00

  • A randomly assigned double-blind cross-over study examining the relative anti-parkinsonian tremor effects of pramipexole and pergolide.

    abstract：:This study examined the relative anti-Parkinson's disease (PD) tremor potencies of pergolide and pramipexole in people with PD, using a 3-month double-blind cross-over design. Patients were randomly assigned to receive either pergolide and then pramipexole (n=9) or vice versa (n=8). The dose of the respective dopamine...

    journal_title：European 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：10.1111/j.1468-1331.2004.01019.x

    authors： Navan P,Findley LJ,Undy MB,Pearce RK,Bain PG

    更新日期：2005-01-01 00:00:00

  • Vascular risk factor awareness before and pharmacological treatment before and after stroke and TIA.

    abstract：BACKGROUND AND PURPOSE:Educating the public to screen for vascular risk factors and have them treated is a major public health issue. We assessed the vascular risk factor awareness and frequency of treatment in a cohort of patients with cerebral ischaemia. METHODS:Data on awareness and pharmacological treatment of vas...

    journal_title：European journal of neurology

    pub_type： 杂志文章,多中心研究

    doi：10.1111/j.1468-1331.2009.02562.x

    authors： Nolte CH,Jungehulsing GJ,Rossnagel K,Roll S,Haeusler KG,Reich A,Willich SN,Villringer A,Muller-Nordhorn J

    更新日期：2009-06-01 00:00:00

  • Clinical characteristics, risk factors and pre-surgical evaluation of post-infectious epilepsy.

    abstract：BACKGROUND AND PURPOSE:Epilepsy is a frequent complication of central nervous system (CNS) infections. Post-infectious epilepsy is commonly refractory to medical treatment and plays a pivotal role for the poor long-term outcome of CNS infections. OBJECTIVES:To provide an overview of clinical characteristics and risk f...

    journal_title：European journal of neurology

    pub_type： 杂志文章,评审

    doi：10.1111/j.1468-1331.2012.03842.x

    authors： Sellner J,Trinka E

    更新日期：2013-03-01 00:00:00

  • Follow-up study of cardiac ¹²³I-MIBG scintigraphy in idiopathic REM sleep behavior disorder.

    abstract：BACKGROUND:Cardiac (123) I-metaiodobenzylguanidine ((123) I-MIBG) uptake in patients with idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) is markedly reduced, as in Parkinson's disease (PD). METHODS:We performed (123) I-MIBG scintigrams on patients with iRBD and PD. After the initial (123) I-MIBG sc...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2011.03392.x

    authors： Miyamoto T,Miyamoto M,Iwanami M,Hirata K

    更新日期：2011-10-01 00:00:00

  • Overview of magnetic resonance imaging for management of relapsing-remitting multiple sclerosis in everyday practice.

    abstract：:Although the value of magnetic resonance imaging (MRI) for diagnosis/differential diagnosis of patients with clinically isolated syndromes suggestive of multiple sclerosis (MS) is widely accepted, adoption of MRI into clinical practice to monitor disease evolution remains a work in progress. However, an accumulating b...

    journal_title：European journal of neurology

    pub_type： 杂志文章,评审

    doi：10.1111/ene.12800

    authors： Oreja-Guevara C,ParadigMS Group.

    更新日期：2015-10-01 00:00:00

  • Rebound intracranial hypertension after treatment of spontaneous intracranial hypotension.

    abstract：:Spontaneous intracranial hypotension (SIH) is characterized by orthostatic headache and the cause is usually cerebrospinal fluid leaks in spine level. Most patients with SIH have a benign course. Epidural blood patch (EBP) is the treatment of choice when initial conservative managements are ineffective. We reported a ...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2006.01369.x

    authors： Tsui H,Wu S,Kuo H,Chen C

    更新日期：2006-07-01 00:00:00

  • Cortical thickness in de novo patients with Parkinson disease and mild cognitive impairment with consideration of clinical phenotype and motor laterality.

    abstract：BACKGROUND AND PURPOSE:Parkinson's disease (PD) is a progressive neurodegenerative disorder with motor and non-motor symptoms, including cognitive deficits. Several magnetic resonance imaging approaches have been applied to investigate brain atrophy in PD. The aim of this study was to detect early structural cortical a...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/ene.12785

    authors： Danti S,Toschi N,Diciotti S,Tessa C,Poletti M,Del Dotto P,Lucetti C

    更新日期：2015-12-01 00:00:00

  • Association of incompleteness of the anterior part of the circle of Willis with the occurrence of lacunes in the basal ganglia.

    abstract：BACKGROUND AND PURPOSE:This study investigated whether incompleteness of the anterior part of the circle of Willis affects the occurrence of lacunes in the basal ganglia. METHODS:One thousand and seventy-seven healthy individuals examined by magnetic resonance (MR) imaging and MR angiography were divided into eight su...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2011.03400.x

    authors： Miyazawa N,Shinohara T,Yamagata Z

    更新日期：2011-11-01 00:00:00

  • A clinical variance in familial amyotrophic lateral sclerosis with a point mutation in Cu/Zn superoxide dismutase gene.

    abstract：:We report here a novel point mutation in exon 5 of the Cu/Zn superoxide dismutase (SOD) gene resulting in an amino acid substitution of valine(148) by isoleucine (V148I) in a Japanese family with amyotrophic lateral sclerosis (FALS). In this family, the age at onset was young (28.0 ± 3.8 years old, mean ± SD, n = 4) a...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.1995.tb00141.x

    authors： Sakuma R,Abe K,Aoki M,Ikeda M,Okita N,Hiwatari M,Sakurai M,Itoyama Y

    更新日期：1995-09-01 00:00:00

  • Rapidly reversible dementia in cerebral amyloid inflammatory vasculopathy.

    abstract：:This report discusses a biopsy proven case of cerebral amyloid angiopathy, with additional prominent vascular inflammatory features, characterized by a rapidly progressive dementia and leukoencephalopathy, where the clinical and radiological abnormalities resolved rapidly with minimal therapeutic intervention. We prop...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1046/j.1351-5101.2003.00707.x

    authors： Harkness KA,Coles A,Pohl U,Xuereb JH,Baron JC,Lennox GG

    更新日期：2004-01-01 00:00:00

  • A case of sarcoidosis presenting as a non-specific intramedullary lesion.

    abstract：:Neurosarcoidosis occurs in 5-15% of sarcoidosis cases. Approximately 50% of patients with neurosarcoidosis present with a neurological disease at the time sarcoidosis is first diagnosed. Spinal sarcoidosis is rare. We report the case of a 61-year-old man with a highly aspecific intramedullary lesion as the first manif...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2006.01527.x

    authors： Caneparo D,Lucetti C,Nuti A,Cipriani G,Tessa C,Fazzi P,Bonuccelli U

    更新日期：2007-03-01 00:00:00

  • Cerebrospinal fluid:serum glucose ratio in the ventricular and lumbar compartments: implications for clinical practice.

    abstract：BACKGROUND AND PURPOSE:Calculation of the cerebrospinal fluid:serum glucose (CSF:SGlu ) ratio is part of the routine cerebrospinal fluid (CSF) work-up. Reference values have been defined for lumbar CSF, but are lacking for ventricular CSF. The objective of this study was to investigate whether the CSF:SGlu ratio is sim...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/ene.13513

    authors： Hegen H,Walde J,Auer M,Deisenhammer F

    更新日期：2018-02-01 00:00:00

  • Serum albumin level and nosocomial pneumonia in stroke patients.

    abstract：:Hypoalbuminemia is associated with increased risk of infections. The aim of this study was to determine if serum albumin level is an independent predictor of nosocomial pneumonia in stroke patients. Data of 705 consecutive ischemic stroke patients admitted within 24 h after stroke onset were analyzed retrospectively. ...

    journal_title：European journal of neurology

    pub_type： 杂志文章

    doi：10.1111/j.1468-1331.2006.01210.x

    authors： Dziedzic T,Pera J,Klimkowicz A,Turaj W,Slowik A,Rog TM,Szczudlik A

    更新日期：2006-03-01 00:00:00