Abstract：
:Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
García-Martín E,Martínez C,Alonso-Navarro H,Benito-León J,Lorenzo-Betancor O,Pastor P,Puertas I,Rubio L,López-Alburquerque T,Agúndez JA,Jiménez-Jiménez FJdoi
10.1007/s00415-010-5708-zsubject
Has Abstractpub_date
2011-02-01 00:00:00pages
203-11issue
2eissn
0340-5354issn
1432-1459journal_volume
258pub_type
杂志文章abstract：:Windmill nystagmus is characterized by a clock-like rotation of the beating direction of a jerk nystagmus suggesting separate horizontal and vertical oscillators, usually 90° out of phase. We report oculographic characteristics in three patients with variants of windmill nystagmus in whom the common denominator was pr...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-016-8152-x
更新日期：2016-07-01 00:00:00
abstract：PURPOSE:To develop specific diagnostic ultrasound (US) models for hereditary motor and sensory neuropathies (HMSN) in patients with primarily demyelinating or axonal polyneuropathies (PNP) according to standard nerve conduction studies (NCS) criteria. METHODS:Single-centre, examiner-blinded cross-sectional study in ac...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-017-8687-5
更新日期：2018-01-01 00:00:00
abstract：:Myasthenia gravis patients usually present with fluctuating, asymmetrical stress-dependent weakness in the absence of other neurological disturbances. In weak patients psychopathological disturbances are frequently reported and misdiagnosed as a psychiatric disorder. The question to what extent psychiatric symptoms ar...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-007-2022-5
更新日期：2007-05-01 00:00:00
abstract：:The Analog Model was developed for use in patients with multiple sclerosis (MS) at an international roundtable meeting in 2001. Three key disease components are monitored, namely relapses, disability progression and magnetic resonance imaging activity. Its use provides a rapid, straightforward means of assessing the e...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-004-1512-y
更新日期：2004-09-01 00:00:00
abstract：:Frailty is known to predict dementia. However, its link with neurodegenerative alterations of the central nervous system (CNS) is not well understood at present. We investigated the association between the biomechanical response of the CNS and frailty in older adults suspected of normal pressure hydrocephalus (NPH) pr...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-019-09689-z
更新日期：2020-05-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-010-5780-4
更新日期：2011-03-01 00:00:00
abstract：:Clinical diagnosis of amyotrophic lateral sclerosis (ALS) in patients presenting with cramps and fasciculations may not be evident at the first consultation. Sequential reviews, clinical and neurophysiological, form an important part of clinical practice in such cases. Recent attempts to delineate a more benign group ...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-010-5791-1
更新日期：2011-04-01 00:00:00
abstract：:Gait variability has potential utility as a predictive measure of dysfunction in Parkinson's disease (PD). Current understanding implicates non-dopaminergic pathways. This study investigated the explanatory characteristics of gait variability in PD on and off medication under single and dual task conditions. Fifty peo...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-010-5789-8
更新日期：2011-04-01 00:00:00
abstract：:Levodopa therapy is essential for patients in the advanced stages of Parkinson's disease. However, at early stages, DA agonist therapy has similar efficacy in the treatment of parkinsonism and a lower incidence of motor complications compared to levodopa therapy several years after the initiation of the therapy. The m...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-002-1205-3
更新日期：2002-09-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-009-0111-3
更新日期：2009-03-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-09971-5
更新日期：2020-11-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-017-8485-0
更新日期：2017-06-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313342
更新日期：1980-01-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-017-8407-1
更新日期：2017-04-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-008-0763-4
更新日期：2008-05-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-10334-3
更新日期：2020-12-23 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00818708
更新日期：1993-01-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313651
更新日期：1984-01-01 00:00:00
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journal_title：Journal of neurology
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journal_title：Journal of neurology
pub_type： 杂志文章,多中心研究
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abstract：:The various clinical features of multiple system atrophy (MSA) make the diagnosis of the disease difficult, especially in its early stages, when signs of differentiated neuroanatomical system involvement have not yet appeared. Mortality studies may be affected by the variability of the diagnostic criteria and selectio...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00868999
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journal_title：Journal of neurology
pub_type： 杂志文章,评审
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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
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/pl00007804
更新日期：2000-02-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313911
更新日期：1985-01-01 00:00:00
abstract：:Anti-N-Methyl-D-Aspartate receptor (NMDAR) encephalitis is an acute neurological disorder affecting children and adults. We aimed to compare the clinical characteristics, treatments, and outcomes between children and adults with anti-NMDAR encephalitis and to assess the probable risk factors. In this observational stu...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-016-8282-1
更新日期：2016-12-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-018-8917-5
更新日期：2018-08-01 00:00:00
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journal_title：Journal of neurology
pub_type： 临床试验,杂志文章
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更新日期：2001-08-01 00:00:00
abstract：: ...
journal_title：Journal of neurology
pub_type： 信件
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更新日期：2018-12-01 00:00:00
abstract：:This review summarizes topical papers from the fields of neuro-ophthalmology and neuro-otology published from August 2013 to February 2015. The main findings are: (1) diagnostic criteria for pseudotumor cerebri have been updated, and the Idiopathic Intracranial Hypertension Treatment Trial evaluated the efficacy of ac...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-015-7825-1
更新日期：2015-12-01 00:00:00
