Haplotype analysis encompassing HTT gene in Chinese patients with Huntington's disease.

Abstract:

BACKGROUND AND PURPOSE:Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder with varied prevalence in different populations, which may be associated with specific haplotypes. This study aimed to explore the haplotypes encompassing the HTT gene in the Chinese population. METHODS:A total of 406 individuals with HD and 59 normal relatives from 253 families with HD were enrolled. A total of 29 tag single nucleotide polymorphisms (tSNPs) were selected and genotyped for the haplotype analysis. RESULTS:In stage one, we used 18 tSNPs to replicate the distribution of three major haplogroups (A, B, C). We found that risk-associated haplogroup variants A1 and A2, enriched on Caucasian HD chromosomes, were totally absent from both Chinese HD and control chromosomes, and the distributions of haplogroups between HD and control chromosomes were similar. Therefore, in stage two, we used 29 tSNPs (including the18 tSNPs) to define new haplogroups (I, II, III) and found that haplogroup I accounted for 61.4% on HD chromosomes and 34.4% on control chromosomes, indicating that haplogroup I was enriched on Chinese HD chromosomes. CONCLUSIONS:This is the first haplotype analysis encompassing HTT in the Chinese population. The results contribute to explaining the low prevalence of HD in China and provide a better understanding of genetic diversity in the HTT region.

journal_name

Eur J Neurol

authors

Li XY,Li HL,Dong Y,Gao B,Cheng HR,Ni W,Gan SR,Liu ZJ,Burgunder JM,Wu ZY

doi

10.1111/ene.14072

subject

Has Abstract

pub_date

2020-02-01 00:00:00

pages

273-279

issue

2

eissn

1351-5101

issn

1468-1331

journal_volume

27

pub_type

杂志文章
  • European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of paraproteinaemic demyelinating neuropathies: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Socie

    abstract:BACKGROUND:Paraprotein-associated neuropathies have heterogeneous clinical, neurophysiological, neuropathological and haematological features. Objectives. To prepare evidence-based and consensus guidelines on the clinical management of patients with both a demyelinating neuropathy and a paraprotein (paraproteinaemic de...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2006.01467.x

    authors: European Federation of Neurological Societies.,Peripheral Nerve Society.,Hadden RD,Nobile-Orazio E,Sommer C,Hahn A,Illa I,Morra E,Pollard J,Hughes RA,Bouche P,Cornblath D,Evers E,Koski CL,Léger JM,Van den Bergh P,van Door

    更新日期:2006-08-01 00:00:00

  • Cut-off scores in MMSE: a moving target?

    abstract:BACKGROUND:Cognitive tests are known to be influenced by language, culture and education. In addition, there may be an impact of 'epoch' in cognition, because there is secular increase in scores of IQ tests in children. If we assume this is a long lasting process, then it should persist later in life. METHODS:To test ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2009.02907.x

    authors: Morgado J,Rocha CS,Maruta C,Guerreiro M,Martins IP

    更新日期:2010-05-01 00:00:00

  • A multicenter study of transient global amnesia for the better detection of magnetic resonance imaging abnormalities.

    abstract:BACKGROUND AND PURPOSE:The detection rate of diffusion-weighted (DWI) hyperintense lesions varies widely in patients with transient global amnesia (TGA). The aim was to examine the association of hyperintense lesions on DWI magnetic resonance imaging (MRI) with patient characteristics, precipitating factors, clinical p...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14408

    authors: Higashida K,Okazaki S,Todo K,Sasaki T,Ohara N,Kohara N,Yamamoto S,Yamagami H,Hashikawa K,Yoshimoto T,Ihara M,Koga M,Szabo K,Mochizuki H

    更新日期:2020-11-01 00:00:00

  • Functional connectivity and topology in patients with restless legs syndrome: a case-control resting-state functional magnetic resonance imaging study.

    abstract:BACKGROUND AND PURPOSE:Functional connectivity studies revealed alterations within thalamic, salience, and default mode networks in restless legs syndrome patients. METHODS:Eighty-two patients with restless legs syndrome (untreated, n = 30; on dopaminergic medication, n = 42; on alpha-2-delta ligands as mono- or polyt...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14577

    authors: Tuovinen N,Stefani A,Mitterling T,Heidbreder A,Frauscher B,Gizewski ER,Poewe W,Högl B,Scherfler C

    更新日期:2021-02-01 00:00:00

  • The PRIPS study: screening battery for subjects at risk for Parkinson's disease.

    abstract:BACKGROUND AND PURPOSE:Screening batteries to narrow down a target-at-risk population are essential for trials testing neuroprotective compounds aiming to delay or prevent onset of Parkinson's disease (PD). METHODS:The PRIPS study focuses on early detection of incident PD in 1847 at baseline PD-free subjects, and asse...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2012.03798.x

    authors: Berg D,Godau J,Seppi K,Behnke S,Liepelt-Scarfone I,Lerche S,Stockner H,Gaenslen A,Mahlknecht P,Huber H,Srulijes K,Klenk J,Fassbender K,Maetzler W,Poewe W,PRIPS study group.

    更新日期:2013-01-01 00:00:00

  • Apathy in acute stroke patients.

    abstract:BACKGROUND AND PURPOSE:Apathy is a frequent disturbance in stroke patients. The aim of this case-control study was to elucidate whether apathy: (i) was secondary to stroke or related to hospitalization, (ii) was related to thalamic and striatocapsular stroke lesions, (iii) was independent from cognitive impairment and ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2011.03508.x

    authors: Caeiro L,Ferro JM,Figueira ML

    更新日期:2012-02-01 00:00:00

  • Clinical and echocardiographic characteristics of cardioembolic stroke.

    abstract:BACKGROUND AND PURPOSE:Ischaemic stroke frequently has a cardioembolic (CE) source. Clinical and echocardiographic parameters associated with CE stroke were evaluated. METHODS:In all, 93 consecutive ischaemic stroke patients who underwent a transthoracic echocardiogram were retrospectively analysed; strokes were class...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.13981

    authors: Ferkh A,Brown P,O'Keefe E,Zada M,Duggins A,Thiagalingam A,Altman M,Boyd A,Byth K,Kizana E,Denniss AR,Thomas L

    更新日期:2019-10-01 00:00:00

  • Practice recommendations for neurovascular ultrasound investigations of acute stroke patients in the setting of the COVID-19 pandemic: an expert consensus from the European Society of Neurosonology and Cerebral Hemodynamics.

    abstract:BACKGROUND AND PURPOSE:Patients with acute ischemic stroke are at high-risk for contracting COVID-19 infection. Additionally, healthcare professionals including neurovascular ultrasound providers are also at risk of being infected by SARS-CoV-2 virus. Yet, preparedness to continue to guarantee hyperacute treatment is v...

    journal_title:European journal of neurology

    pub_type: 杂志文章,实务指引

    doi:10.1111/ene.14334

    authors: Baracchini C,Pieroni A,Kneihsl M,Azevedo E,Diomedi M,Pascazio L,Wojczal J,Lucas C,Bartels E,Bornstein NM,Csiba L,Valdueza J,Tsivgoulis G,Malojcic B

    更新日期:2020-09-01 00:00:00

  • Myocardial injury in transient global amnesia: a case-control study.

    abstract:BACKGROUND AND PURPOSE:Elevation of cardiac troponin (cTn), a sensitive biomarker of myocardial injury, is frequently observed in severe acute neurological disorders. Case reports suggest that cardiac dysfunction may also occur in patients with transient global amnesia (TGA). Until now, no study has systematically asse...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.13920

    authors: Erdur H,Siegerink B,Ganeshan R,Audebert HJ,Endres M,Nolte CH,Scheitz JF

    更新日期:2019-07-01 00:00:00

  • Ischaemic stroke.

    abstract::There are about 25.7 million stroke survivors worldwide. Ischaemic stroke remains the most common type of stroke. Numerous modifiable risk factors have been identified, including behaviors such as cigarette smoking and sedentary lifestyle and treatable medical comorbidities such as hypertension, hyperlipidemia and atr...

    journal_title:European journal of neurology

    pub_type: 杂志文章,评审

    doi:10.1111/ene.13409

    authors: Meschia JF,Brott T

    更新日期:2018-01-01 00:00:00

  • Therapeutic outcome in neuropathic pain: relationship to evidence of nervous system lesion.

    abstract::Treatment outcome in patients with neuropathic pain (NP) is often variable and disappointing. We tested the hypothesis that patients with clear evidence of nervous system lesion respond better to pharmacological treatment with documented effect on NP than patients with poor or no evidence of nervous system lesion. Fur...

    journal_title:European journal of neurology

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1468-1331.2004.00843.x

    authors: Rasmussen PV,Sindrup SH,Jensen TS,Bach FW

    更新日期:2004-08-01 00:00:00

  • Minimal clinically important differences in functional motor scores in adults with spinal muscular atrophy.

    abstract:BACKGROUND AND PURPOSE:In patients with spinal muscular atrophy (SMA), functional disease scores are frequently used to evaluate the course of the disease and the efficacy of treatment. The aim of the present study was to propose minimal clinically important difference (MCID) values for motor scores in order to estimat...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14472

    authors: Stolte B,Bois JM,Bolz S,Kizina K,Totzeck A,Schlag M,Kleinschnitz C,Hagenacker T

    更新日期:2020-12-01 00:00:00

  • Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression.

    abstract:BACKGROUND AND PURPOSE:X-linked dystonia-parkinsonism (XDP) is an inherited neurodegenerative adult-onset movement disorder associated with striatal atrophy. As the dopaminergic system has not yet been systemically studied in this basal ganglia model disease, it is unclear whether nigrostriatal dysfunction contributes ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.13256

    authors: Brüggemann N,Rosales RL,Waugh JL,Blood AJ,Domingo A,Heldmann M,Jamora RD,Münchau A,Münte TF,Lee LV,Buchmann I,Klein C

    更新日期:2017-05-01 00:00:00

  • Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China.

    abstract:BACKGROUND AND PURPOSE:Amyotrophic lateral sclerosis (ALS)-related genes and mutations have been increasingly discovered recently and an improved understanding of genotype-phenotype relationships may help to predict the disease course and refine genetic diagnosis. METHODS:We collected clinical data and blood samples f...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14213

    authors: Chen W,Xie Y,Zheng M,Lin J,Huang P,Pei Z,Yao X

    更新日期:2020-06-01 00:00:00

  • Is high socioeconomic status a risk factor for multiple sclerosis? A systematic review.

    abstract::High socioeconomic status (SES) is generally associated with better health outcomes, but some research has linked it with an increased risk of multiple sclerosis (MS). The evidence for this association is inconsistent and has not previously been systematically reviewed. A systematic review of cohort and case-control s...

    journal_title:European journal of neurology

    pub_type: 杂志文章,评审

    doi:10.1111/ene.12586

    authors: Goulden R,Ibrahim T,Wolfson C

    更新日期:2015-06-01 00:00:00

  • Anticipatory postural adjustments prior to step initiation are hypometric in untreated Parkinson's disease: an accelerometer-based approach.

    abstract:BACKGROUND AND PURPOSE:Anticipatory postural adjustments (APAs), prior to step initiation, are bradykinetic in advanced Parkinson's disease (PD) and may be one of the factors associated with 'start hesitation'. However, little is known about APAs in the early stage of PD. In this study, we determined whether body-worn ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2009.02641.x

    authors: Mancini M,Zampieri C,Carlson-Kuhta P,Chiari L,Horak FB

    更新日期:2009-09-01 00:00:00

  • Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis.

    abstract:BACKGROUND AND PURPOSE:Hereditary sensory and autonomic neuropathies (HSANs) are a group of clinically and genetically heterogeneous neurological disorders characterized by sensory dysfunctions. Here, 21 affected Chinese families are reported, including 19 with congenital insensitivity to pain with anhidrosis (CIPA; na...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14234

    authors: Zhao F,Mao B,Geng X,Ren X,Wang Y,Guan Y,Li S,Li L,Zhang S,You Y,Cao Y,Yang T,Zhao X

    更新日期:2020-08-01 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

  • Somatosensory system hyperexcitability in alternating hemiplegia of childhood.

    abstract:BACKGROUND AND PURPOSE:Alternating hemiplegia of childhood (AHC) is a rare neurological disease characterized by recurrent paroxysmal attacks of hemiplegia. The aim of the study was to assess the recovery cycle of the somatosensory evoked potentials (SEPs) in a group of AHC patients. METHODS:Seven AHC patients and 10 ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.12516

    authors: Vollono C,Rinalduzzi S,Miliucci R,Vigevano F,Valeriani M

    更新日期:2014-12-01 00:00:00

  • A multi-center, multinational age- and gender-adjusted normative dataset for immunofluorescent intraepidermal nerve fiber density at the distal leg.

    abstract:BACKGROUND AND PURPOSE:Quantification of intraepidermal nerve fibers (IENFs) in skin biopsies is now the tool of choice to diagnose small fiber neuropathies. An adequate normative dataset, necessary to assess normality cutoffs, is available for brightfield microscopy but not for immunofluorescence. METHODS:Intraepider...

    journal_title:European journal of neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/ene.12842

    authors: Provitera V,Gibbons CH,Wendelschafer-Crabb G,Donadio V,Vitale DF,Stancanelli A,Caporaso G,Liguori R,Wang N,Santoro L,Kennedy WR,Nolano M

    更新日期:2016-02-01 00:00:00

  • Prevalence of essential tremor in the city of Kolkata, India: a house-to-house survey.

    abstract:BACKGROUND AND PURPOSE:Prevalence of essential tremor (ET), one of the most common movement disorders, has not been properly evaluated amongst heterogeneous population in India. METHODS:We conducted a cross-sectional epidemiological study on the prevalence of ET in a randomly stratified population in the metropolitan ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2009.02589.x

    authors: Das SK,Banerjee TK,Roy T,Raut DK,Chaudhuri A,Hazra A

    更新日期:2009-07-01 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

  • A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson's disease in Russia.

    abstract::A PARK8 form of Parkinson's disease (PD) is caused by a novel gene, leucine-rich repeat kinase 2 (LRRK2), and a single mutation G2019S was found in a proportion of LRRK2-associated cases of diverse ethnic origins. We performed the LRRK2 G2019S mutation analysis in 304 Russian patients with PD, including 291 sporadic a...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2007.01685.x

    authors: Illarioshkin SN,Shadrina MI,Slominsky PA,Bespalova EV,Zagorovskaya TB,Bagyeva GKh,Markova ED,Limborska SA,Ivanova-Smolenskaya IA

    更新日期:2007-04-01 00:00:00

  • Chronic obstructive pulmonary disease as a risk factor for stroke-related seizures.

    abstract::Chronic obstructive pulmonary disease (COPD) is a risk factor for cardiovascular disorders and different types of stroke. The present retrospective study investigates whether COPD is also a risk factor for the development of seizures in stroke patients. The study population consisted of 237 patients with stroke-relate...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2007.01829.x

    authors: De Reuck J,Proot P,Van Maele G

    更新日期:2007-09-01 00:00:00

  • The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS.

    abstract:BACKGROUND AND PURPOSE:Mutations in fused in sarcoma (FUS) were recently identified as a cause of familial amyotrophic lateral sclerosis (ALS). The frequency of occurrence of mutations in FUS in sets of patients with familial ALS remains to be established. METHODS:We sequenced the FUS gene in a cohort of patients with...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2009.02859.x

    authors: Damme PV,Goris A,Race V,Hersmus N,Dubois B,Bosch LV,Matthijs G,Robberecht W

    更新日期:2010-05-01 00:00:00

  • Urinary incontinence in multiple sclerosis: prevalence, severity and impact on patients' quality of life.

    abstract:BACKGROUND AND PURPOSE:Lower urinary tract symptoms (LUTS) including frequent urination, nocturia and urge urinary incontinence negatively impact quality of life. This project aimed at characterizing the prevalence and severity of urinary incontinence in multiple sclerosis (MS) patients and its association with demogra...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.13010

    authors: Zecca C,Riccitelli GC,Disanto G,Singh A,Digesu GA,Panicari L,Puccini F,Mattioli M,Tubaro A,Gobbi C

    更新日期:2016-07-01 00:00:00

  • Action and object naming in Parkinson's disease without dementia.

    abstract::The present study aimed to assess the ability in objects and actions naming in Parkinson's disease (PD) patients. Further, we wished to assess the effect of a particular conceptual dimension, i.e. manipulability, on the naming of object and actions. Patients were recruited from the Department of Neurology, University ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2007.01797.x

    authors: Cotelli M,Borroni B,Manenti R,Zanetti M,Arévalo A,Cappa SF,Padovani A

    更新日期:2007-06-01 00:00:00

  • Encephalopathy and biopsy-proven cerebrovascular inflammatory changes in a cocaine abuser.

    abstract::Cocaine abuse is a well known cause of cerebrovascular complications. An inflammatory vasculopathy hypothesis has been proposed, but the medical literature has only reported a few pathological confirmations. We report a case with a biopsy demonstrating cerebral inflammatory vascular changes that are associated with co...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1046/j.1468-1331.1998.510103.x

    authors: Diez-Tejedor E,Frank A,Gutierrez M,Barreiro P

    更新日期:1998-01-01 00:00:00

  • Treatment of hemiplegic migraine with triptans.

    abstract::The objective of this study was to investigate the efficacy, safety and tolerability of triptans in patients who suffer from familial or sporadic hemiplegic migraine. Seventy-six subjects had used triptans at least once as an abortive treatment. Average triptan response was 6.9 (SD +/-3.1) and adverse event severity 4...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2007.01900.x

    authors: Artto V,Nissilä M,Wessman M,Palotie A,Färkkilä M,Kallela M

    更新日期:2007-09-01 00:00:00

  • Comparison of ultrasonography, CT angiography, and digital subtraction angiography in severe carotid stenoses.

    abstract::Digital subtraction angiography (DSA) is considered to be the 'gold standard' for confirmation of severe (70-99%) stenoses of internal carotid arteries (ICAs). However, it is associated with a risk of complications. The aim of this study was to assess the accuracy of ultrasonography (US), computed tomographic angiogra...

    journal_title:European journal of neurology

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1468-1331.2004.00878.x

    authors: Herzig R,Burval S,Krupka B,Vlachová I,Urbánek K,Mares J

    更新日期:2004-11-01 00:00:00