Clinical features of essential tremor seen in neurology practice: a study of 357 patients

Tallón-Barranco, A.; A, Vázquez; Jiménez‐Jiménez, Félix Javier; Ortı́-Pareja, M; Gasalla, Teresa; Cabrera‐Valdivia, Francisco; Benito‐León, Julián; Molina, José Antonio

doi:10.1016/s1353-8020(97)00031-x

Cited by 46 publications

(40 citation statements)

References 16 publications

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“…Although it has been suggested that some environmental factors could play a role in the risk for ET [3, 5,22,23,24,25,26,27,28], a reported family history is frequently associated with this disease [1,2,3]. To date, reports on the possible role of genetic polymorphisms in the risk for ET are scarce.…”

Section: Discussionmentioning

confidence: 99%

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<i>CYP2C19</i> Polymorphism and Risk for Essential Tremor

Alonso‐Navarro

Martı́nez²,

García‐Martín³

et al. 2006

Eur Neurol

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Many patients with essential tremor (ET) develop acute adverse effects to primidone. We investigated the association between CYP2C19 polymorphism (possibly related to primidone metabolism) and the risk for developing essential ET and acute adverse effects to primidone. Leukocytary DNA from 200 ET patients and 300 healthy controls was studied for the genotype CYP2C19 and the occurrence of CYP2C19 allelic variants by using allele-specific PCR amplification and Sma I and BamH I RFLP analyses. The frequencies of the genotype CYP2C19*1/CYP2C19*2 and of the allelic variant CYP2C19*2 were significantly higher in ET patients than in controls. The mean age at onset of ET did not differ significantly between patients with genotypes CYP2C19*1/CYP2C19*2andCYP2C19*1/CYP2C19*1. The frequencies of the genotype CYP2C19*1/CYP2C19*2 and the allelic variant CYP2C19*2 were similar in ET patients who developed acute adverse effects to primidone, in those who tolerated primidone and in controls; the frequencies were also similar in patients with head, voice, tongue and chin tremor compared with controls. These results suggest that heterozygosis CYP2C19*1/CYP2C19*2 is associated with the risk for ET, but not with the age at onset of ET, the presentation of acute side effects of primidone, or the existence of head, voice, tongue or chin tremor.

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Section: Discussionmentioning

confidence: 99%

“…Family history of tremor has been found to be significantly more frequent in ET patients when compared with controls in some studies [1,2,3]. The reported positivity of family history according to some clinical series is widely variable, ranging from 17.4 to 100% [4, 5].…”

Section: Introductionmentioning

confidence: 99%

<i>CYP2C19</i> Polymorphism and Risk for Essential Tremor

Alonso‐Navarro

Martı́nez²,

García‐Martín³

et al. 2006

Eur Neurol

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“…5 Essential tremor is characterized by a postural and action tremor with a frequency of 4-12 Hz that typically involves the upper extremities. [5][6][7][8][9][10][11][12][13][14][15][16][17] Tremor occurs during volitional movements or sustained posture and is often progressive, resulting in spread to additional sites such as the head and abdomen after its initial onset. [5][6][7][8][9][10][11][12][13][14][15][16][17] In addition, the amplitude of the tremor may increase over time.…”

Section: Introductionmentioning

confidence: 99%

Perception of Vocal Tremor During Sustained Phonation Compared With Sentence Context

2012

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“…Family history of tremor is more frequent in patients with ET when compared with controls groups in some studies [19,20,40]. The positivity of family history is widely variable, ranging from 17.4 to 100% [4,25].…”

Section: Introductionmentioning

confidence: 99%

Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor

et al. 2010

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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.

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Clinical features of essential tremor seen in neurology practice: a study of 357 patients

Cited by 46 publications

References 16 publications

<i>CYP2C19</i> Polymorphism and Risk for Essential Tremor

<i>CYP2C19</i> Polymorphism and Risk for Essential Tremor

Perception of Vocal Tremor During Sustained Phonation Compared With Sentence Context

Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor

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