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1.
Mov Disord ; 36(5): 1246-1250, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33416199

RESUMEN

BACKGROUND: The pathophysiology of cervical dystonia is still unclear. Recent evidence points toward a network disorder affecting several brain areas. The objective of this study was to assess the saccadic inhibition as a marker of corticostriatal function in cervical dystonia. METHODS: We recruited 31 cervical dystonia patients and 17 matched healthy controls. Subjects performed an overlap prosaccade, an antisaccade, and a countermanding task on an eye tracker to assess automatic visual response and response inhibition. RESULTS: Cervical dystonia patients made more premature saccades (P = 0.041) in the overlap prosaccade task and more directional errors in the antisaccade task (P = 0.011) and had a higher rate of failed inhibition in the countermanding task (P = 0.001). CONCLUSIONS: The results suggest altered saccadic inhibition in cervical dystonia, possibly as a consequence of dysfunctional corticostriatal networks. Further studies are warranted to confirm whether these abnormalities are affected by the available therapies and whether this type of impairment is found in other focal dystonias. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Movimientos Sacádicos , Tortícolis , Encéfalo , Tecnología de Seguimiento Ocular , Humanos , Inhibición Psicológica
2.
Eur Radiol ; 30(5): 2802-2808, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-31953661

RESUMEN

OBJECTIVES: MR planimetry of brainstem structures can be helpful for the discrimination of Parkinsonian syndromes. It has been suggested that ageing might influence brainstem MR measurements assessed by MR planimetry, while effects of gender and total intracranial volume (TIV) have not been assessed so far. The aim of this study was to evaluate age, gender and TIV effects on brainstem MR planimetric measures. METHODS: Brainstem MR planimetric measures of diameters (midbrain, pons, middle and superior cerebellar peduncle) and areas (pons and midbrain), the derived ratios, and the magnetic resonance Parkinsonism index (MRPI) were assessed on 1.5-T MR images in a large cohort of 97 healthy controls and analysed for the influence of age, gender and TIV with univariate and multivariate linear models. RESULTS: Neither gender nor age effects on planimetric measurements were observed in the population relevant for the differential diagnosis of neurodegenerative Parkinsonism, aged 50 to 80 years, except for single area-derived measurements, with gender effects on pontine area (p = 0.013) and age effects on midbrain area (p = 0.037). Results were similar upon inclusion of the TIV in the analyses. CONCLUSIONS: There is no need to correct for age, gender or TIV when using brainstem-derived MR planimetric measurements in the differential diagnosis of neurodegenerative Parkinsonism. KEY POINTS: • There were no gender effects on single or combined imaging measurements of the brainstem in the population aged 50 to 80 years, the age range relevant for the differential diagnosis of neurodegenerative Parkinsonism (except for pontine area). • There were no age effects on single or combined imaging measurements of the brainstem in the population aged 50 to 80 years, the age range relevant for the differential diagnosis of neurodegenerative Parkinsonism (except for midbrain area). • There is no need for age- or gender-specific cut-offs for the relevant age group.


Asunto(s)
Envejecimiento , Tronco Encefálico/patología , Procesamiento de Imagen Asistido por Computador/métodos , Imagen por Resonancia Magnética/métodos , Enfermedad de Parkinson/diagnóstico , Factores de Edad , Anciano , Anciano de 80 o más Años , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores Sexuales
3.
Brain ; 139(Pt 12): 3163-3169, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27797806

RESUMEN

We conducted a genome-wide association study of essential tremor, a common movement disorder characterized mainly by a postural and kinetic tremor of the upper extremities. Twin and family history studies show a high heritability for essential tremor. The molecular genetic determinants of essential tremor are unknown. We included 2807 patients and 6441 controls of European descent in our two-stage genome-wide association study. The 59 most significantly disease-associated markers of the discovery stage were genotyped in the replication stage. After Bonferroni correction two markers, one (rs10937625) located in the serine/threonine kinase STK32B and one (rs17590046) in the transcriptional coactivator PPARGC1A were associated with essential tremor. Three markers (rs12764057, rs10822974, rs7903491) in the cell-adhesion molecule CTNNA3 were significant in the combined analysis of both stages. The expression of STK32B was increased in the cerebellar cortex of patients and expression quantitative trait loci database mining showed association between the protective minor allele of rs10937625 and reduced expression in cerebellar cortex. We found no expression differences related to disease status or marker genotype for the other two genes. Replication of two lead single nucleotide polymorphisms of previous small genome-wide association studies (rs3794087 in SLC1A2, rs9652490 in LINGO1) did not confirm the association with essential tremor.


Asunto(s)
Temblor Esencial/genética , Estudio de Asociación del Genoma Completo , Coactivador 1-alfa del Receptor Activado por Proliferadores de Peroxisomas gamma/genética , Proteínas Serina-Treonina Quinasas/genética , alfa Catenina/genética , Humanos , Polimorfismo de Nucleótido Simple
4.
Mov Disord Clin Pract ; 11(4): 381-390, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38314609

RESUMEN

BACKGROUND: Advanced imaging techniques have been studied for differential diagnosis between PD, MSA, and PSP. OBJECTIVES: This study aims to validate the utility of individual voxel-based morphometry techniques for atypical parkinsonism in a blinded fashion. METHODS: Forty-eight healthy controls (HC) T1-WI were used to develop a referential dataset and fit a general linear model after segmentation into gray matter (GM) and white matter (WM) compartments. Segmented GM and WM with PD (n = 96), MSA (n = 18), and PSP (n = 20) were transformed into z-scores using the statistics of referential HC and individual voxel-based z-score maps were generated. An imaging diagnosis was assigned by two independent raters (trained and untrained) blinded to clinical information and final diagnosis. Furthermore, we developed an observer-independent index for ROI-based automated differentiation. RESULTS: The diagnostic performance using voxel-based z-score maps by rater 1 and rater 2 for MSA yielded sensitivities: 0.89, 0.94 (95% CI: 0.74-1.00, 0.84-1.00), specificities: 0.94, 0.80 (0.90-0.98, 0.73-0.87); for PSP, sensitivities: 0.85, 0.90 (0.69-1.00, 0.77-1.00), specificities: 0.98, 0.94 (0.96-1.00, 0.90-0.98). Interrater agreement was good for MSA (Cohen's kappa: 0.61), and excellent for PSP (0.84). Receiver operating characteristic analysis using the ROI-based new index showed an area under the curve (AUC): 0.89 (0.77-1.00) for MSA, and 0.99 (0.98-1.00) for PSP. CONCLUSIONS: These evaluations provide support for the utility of this imaging technique in the differential diagnosis of atypical parkinsonism demonstrating a remarkably high differentiation accuracy for PSP, suggesting potential use in clinical settings in the future.


Asunto(s)
Enfermedad de Parkinson , Trastornos Parkinsonianos , Parálisis Supranuclear Progresiva , Humanos , Enfermedad de Parkinson/diagnóstico , Diagnóstico Diferencial , Parálisis Supranuclear Progresiva/diagnóstico , Trastornos Parkinsonianos/diagnóstico , Encéfalo/diagnóstico por imagen
5.
Mov Disord Clin Pract ; 10(1): 115-119, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36698996

RESUMEN

Background: Anti-IgLON5 disease is an autoimmune encephalopathy with sleep disturbances as a hallmark in the majority of reported cases. Additional clinical symptoms are heterogenous and include movement disorders, bulbar dysfunction, autonomic disorders, and neurocognitive impairment. Case: Here, we report the case of an 87-year-old woman presenting with isolated progressive hemichorea. An extensive diagnostic work-up revealed antibodies against IgLON5 in the serum. Neither history nor polysomnography (PSG) unveiled signs and features of sleep dysfunction typically reported in anti-IgLON5 disease. Literature Review: In an extensive literature review we identified twelve other studies reporting about patients with confirmed anti-IgLON5 disease and chorea as extrapyramidal movement disorder in their clinical phenotype. Subsequently, clinical characteristics of these patients were carefully evaluated. Conclusions: Our results support the diversity of clinical phenotypes in anti-IgLON5 disease, adding isolated hemichorea to the spectrum of presenting symptoms. As sleep-related disorders are often not the leading reason for consultation and only revealed by PSG examination, we suggest that screening for antibodies against IgLON5 should be considered in patients presenting with unexplained movement disorders, including isolated hemichorea.

6.
Mov Disord Clin Pract ; 10(6): 914-921, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37332641

RESUMEN

Background: An absent dorsolateral nigral hyperintensity (DNH) is a common finding in patients with neurodegenerative parkinsonism at high or ultra-high field susceptibility-weighted magnetic resonance imaging (SWI). Objective: Despite increasing use of high field magnetic resonance imaging (MRI) in specialized centers, these scanners are still frequently unavailable in primary care or outpatient facilities and underdeveloped or emerging countries. Therefore, the aim of the present study was to evaluate the diagnostic utility of DNH assessment at 1.5 versus 3 T MRI to distinguish patients with neurodegenerative parkinsonism, including Parkinson's disease (PD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP), from healthy controls (HC). Methods: Absence of DNH was assessed on visual inspection of anonymized 1.5 T and 3.0 T SWI scans in a case-control study including 86 patients with neurodegenerative parkinsonism and 33 healthy controls (HC). All study participants were consecutively recruited to undergo 1.5 and 3 T MRI. Results: Overall correct classification was 81.7% (95% CI, 72.6-88.4%) for 1.5 T and 95.7% (95% CI, 89.1-98.7%) for 3 T MRI in discriminating neurodegenerative parkinsonism from controls. However, while DNH was bilaterally present in all but one of the HC at 3 T MRI, it was rated as abnormal (at least unilateral absence) in 15 of 22 HC at 1.5 T MRI, resulting in a specificity of 31.8%. Conclusions: The results of the present study demonstrate an insufficient specificity of visual assessment of DNH at 1.5 T MRI for the diagnosis of neurodegenerative parkinsonism.

7.
Mov Disord ; 27(5): 634-43, 2012 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-22508281

RESUMEN

Convergent evidence suggests a pre-motor period in Parkinson's disease (PD) during which typical motor symptoms have not yet developed although dopaminergic neurons in the substantia nigra have started to degenerate. Advances in different neuroimaging techniques have allowed the detection of functional and structural changes in early PD. This review summarizes the state of the art knowledge concerning structural neuroimaging techniques including magnetic resonance imaging (MRI) and transcranial B-mode-Doppler-sonography (TCS) as well as functional neuroimaging techniques using radiotracer imaging (RTI) with different radioligands in detecting pre-motor PD.


Asunto(s)
Neuroimagen/métodos , Enfermedad de Parkinson/diagnóstico , Encéfalo/metabolismo , Encéfalo/patología , Encéfalo/fisiopatología , Diagnóstico Precoz , Humanos , Neuronas Motoras/metabolismo , Neuronas Motoras/patología , Neuroimagen/instrumentación , Enfermedad de Parkinson/metabolismo , Enfermedad de Parkinson/patología
9.
Front Neurol ; 12: 799953, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-35111129

RESUMEN

BACKGROUND: Mast syndrome is a rare disorder belonging to the group of hereditary spastic paraplegias (HSPs). It is caused by bi-allelic mutations in the ACP33 gene, and is originally described in Old Order Amish. Outside this population, only one Japanese and one Italian family have been reported. Herein, we describe five subjects from the first three SPG21 families of German and Austrian descent. METHODS: Five subjects with complicated HSP were referred to our centers. The workup consisted of neurological examination, neurophysiological and neuropsychological assessments, MRI, and genetic testing. RESULTS: Onset varied from child- to adulthood. All patients exhibited predominant spastic para- or tetraparesis with positive pyramidal signs, pronounced cognitive impairment, ataxia, and extrapyramidal signs. Neurophysiological workup showed abnormal motor and sensory evoked potentials in all the patients. Sensorimotor axonal neuropathy was present in one patient. Imaging exhibited thin corpus callosum and global brain atrophy. Genetic testing revealed one heterozygous compound and two homozygous mutations in the ACP33 gene. CONCLUSION: Herein, we report the first three Austrian and two German patients with SPG21, presenting a detailed description of their clinical phenotype and disease course. Our report adds to the knowledge of this extremely rare disorder, and highlights that SPG21 must also be considered in the differential diagnosis of complicated HSP outside the Amish community.

10.
Parkinsonism Relat Disord ; 82: 87-91, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33271461

RESUMEN

INTRODUCTION: Quantitative MR planimetric measurements were reported to discriminate between progressive supranuclear palsy (PSP) and non-PSP parkinsonism, yet few data exist on the usefulness of these markers in early disease stages. METHODS: The pons-to-midbrain area ratio (P/M) and the Magnetic Resonance Parkinsonism Index (MRPI) as well as new indices, termed P/M2.0 and MRPI2.0, multiplying the former by a ratio of the third ventricle (3rdV) width/frontal horns (FH) width, were calculated on T1-weighted images in 84 patients with clinically unclassifiable neurodegenerative parkinsonism (CUP) at the time of imaging. Areas under the curve (AUCs) of these markers for predicting future PSP was determined. The final clinical diagnosis was made after at least 24 months of follow-up. RESULTS: Final diagnosis was Parkinson's disease in 55 patients, multiple system atrophy in 12 cases, and PSP in 17. At baseline imaging, patients with a final PSP diagnosis had significantly higher MRPI, P/M, MRPI2.0 and P/M2.0 values compared to the other groups. AUCs in discriminating between future PSP and non-PSP parkinsonism were 0.91 for both the P/M and the MRPI and 0.98 for the P/M2.0 and the MRPI2.0. CONCLUSIONS: Brainstem-derived MR planimetric measures yield high diagnostic accuracy for separating PSP from non-PSP parkinsonism in early disease stages when clinical criteria are not yet fully met. Consistent with the underlying pathology in PSP, our study suggests that inclusion of 3rdV width makes P/M2.0 and MRPI2.0 more accurate in diagnosing early stage PSP patients than the P/M and MRPI.


Asunto(s)
Imagen por Resonancia Magnética/normas , Atrofia de Múltiples Sistemas/diagnóstico por imagen , Neuroimagen/normas , Enfermedad de Parkinson/diagnóstico por imagen , Parálisis Supranuclear Progresiva/diagnóstico por imagen , Anciano , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Mesencéfalo/diagnóstico por imagen , Persona de Mediana Edad , Neuroimagen/métodos , Puente/diagnóstico por imagen , Estudios Retrospectivos , Tercer Ventrículo/diagnóstico por imagen
11.
Mov Disord ; 25(14): 2444-9, 2010 Oct 30.
Artículo en Inglés | MEDLINE | ID: mdl-20878992

RESUMEN

Using magnetic resonance (MR) planimetry, both the midbrain-to-pontine area ratio (m/p-ratio) and the MR parkinsonism index (MRPI) have been shown to assist in the differential diagnosis of progressive supranuclear palsy (PSP) from Parkinson's disease (PD) and the Parkinson variant of multiple system atrophy (MSA-P). The aim of this study was to determine the diagnostic accuracy of the MRPI compared with the m/p-ratio in a large cohort of 123 patients with neurodegenerative parkinsonism including patients with PSP, PD, and MSA-P. Patients with PSP had significant higher MRPI values and significant smaller m/p-ratios compared with the other groups with overlapping individual values. Overall predictive accuracy was similar for the m/p-ratio (87.0%) and the MRPI (80.5%) with a predictive accuracy for PSP from MSA-P being significantly better for the MRPI (87.5%) compared with the m/p-ratio (75%) as well as a predictive accuracy for PSP from PD being significantly better for the m/p-ratio (87.6%) compared with the MRPI (77.3%). Both the m/p-ratio and the MRPI may assist the clinical differential diagnosis in neurodegenerative parkinsonism.


Asunto(s)
Imagen por Resonancia Magnética , Mesencéfalo/patología , Atrofia de Múltiples Sistemas/diagnóstico , Enfermedad de Parkinson/diagnóstico , Puente/patología , Parálisis Supranuclear Progresiva/diagnóstico , Anciano , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Masculino , Persona de Mediana Edad , Vías Nerviosas/patología , Valores de Referencia , Estadística como Asunto
12.
Neurodegener Dis ; 7(5): 300-18, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20616565

RESUMEN

The differential diagnosis of parkinsonian syndromes is considered one of the most challenging in neurology, even for movement disorder specialists. Despite published consensus operational criteria for the diagnosis of Parkinson's disease (PD) and the various atypical parkinsonian disorders (APDs) such as progressive supranuclear palsy, multiple system atrophy, and corticobasal syndrome, the clinical separation of APDs from PD carries a high rate of misdiagnosis. However, an early differentiation between APD and PD, each characterized by a largely different natural history, is crucial for determining the prognosis and choosing a treatment strategy. Despite limitations, the different modern magnetic resonance (MR) techniques have undoubtedly added to the differential diagnosis of neurodegenerative parkinsonism. Conventional MRI with visual assessment of T(2)- and T(1)-weighted imaging as well as various advanced MRI techniques offer objective measures and may therefore be useful tools in the diagnostic workup of PD and APDs. In clinical practice, conventional MRI is a well-established method for the exclusion of symptomatic parkinsonism due to other pathologies such as tumors, cerebral ischemia or inflammatory diseases. Furthermore, over the past two decades, advances in MR techniques have enabled to quantitatively illustrate abnormalities in the basal ganglia and infratentorial structures in APDs by methods such as magnetic resonance volumetry, diffusion-weighted imaging, magnetization transfer imaging and proton magnetic resonance spectroscopy. This article aims to review research findings on the value of MRI techniques in the differential diagnosis of neurodegenerative parkinsonian disorders.


Asunto(s)
Imagen por Resonancia Magnética , Enfermedad de Parkinson/diagnóstico , Animales , Atrofia , Diagnóstico Diferencial , Imagen de Difusión por Resonancia Magnética , Diagnóstico Precoz , Humanos , Procesamiento de Imagen Asistido por Computador , Enfermedad de Parkinson/patología
13.
Parkinsonism Relat Disord ; 54: 90-94, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-29643007

RESUMEN

INTRODUCTION: The hummingbird sign and the morning glory flower sign, reflecting midbrain pathology on MRI, have previously been shown to separate patients with progressive supranuclear palsy (PSP) from those with Parkinson's disease (PD) and multiple system atrophy (MSA). The aim of the present study was to determine the diagnostic accuracy and reproducibility of visual assessment of midbrain atrophy patterns in a large cohort of patients with neurodegenerative parkinsonism. METHODS: Retrospective analysis of midbrain atrophy patterns on T1-weighted MRI in a large cohort of patients with neurodegenerative parkinsonism and healthy controls who underwent MR imaging during their diagnostic work-up. RESULTS: 481 patients with neurodegenerative parkinsonism and 79 healthy controls were included in the present study. The presence of the hummingbird sign had a specificity of 99.5% and a positive predictive value of 96.1% for a diagnosis of PSP while sensitivity was suboptimal with 51.6%. Similarly, the presence of the morning glory flower sign yielded a specificity of 97.7% for a diagnosis of PSP, but sensitivity was only 36.8%. Sensitivity of both signs was 35.3% in early, clinically unclassifiable parkinsonism. Visual assessment of these midbrain alterations showed excellent inter-rater agreement. CONCLUSION: Midbrain atrophy patterns are useful in the differential diagnosis of neurodegenerative parkinsonism but both the hummingbird sign and more so the morning glory flower sign suffer from low sensitivity, especially in early disease stages.


Asunto(s)
Imagen por Resonancia Magnética/normas , Mesencéfalo/diagnóstico por imagen , Atrofia de Múltiples Sistemas/diagnóstico por imagen , Enfermedad de Parkinson/diagnóstico por imagen , Parálisis Supranuclear Progresiva/diagnóstico por imagen , Anciano , Atrofia/patología , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Mesencéfalo/patología , Persona de Mediana Edad , Atrofia de Múltiples Sistemas/patología , Enfermedad de Parkinson/patología , Estudios Retrospectivos , Sensibilidad y Especificidad , Parálisis Supranuclear Progresiva/patología
14.
Parkinsonism Relat Disord ; 46: 47-55, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-29126761

RESUMEN

INTRODUCTION: Several previous studies examined different brainstem-derived MR planimetric measures with regards to their diagnostic accuracy in separating patients with neurodegenerative parkinsonian disorders and reported conflicting results. The current study aimed to compare their performance in a well-characterized sample of patients with neurodegenerative parkinsonian disorders. METHODS: MR planimetric measurements were assessed in a large retrospective cohort of 55 progressive supranuclear palsy (PSP), 194 Parkinson's disease (PD) and 63 multiple system atrophy (MSA) patients. This cohort served as a training set used to build C4.5 decision tree models to discriminate PSP, PD and MSA. The models were validated in two independent test sets. The first test set comprised 84 patients with early, clinically unclassifiable parkinsonism (CUP). A prospective cohort of patients with PSP (n = 23), PD (n = 40) and MSA (n = 22) was exploited as a second test-set. RESULTS: The pons-to-midbrain diameter ratio, the midbrain diameter, the middle cerebellar peduncle width and the pons area were identified as the most predictive parameters to separate PSP, MSA and PD in C4.5 decision tree models derived from the training set. Using these decision models, AUCs in discriminating PSP, MSA and PD were 0.90, 0.57 and 0.73 in the CUP-cohort and 0.95, 0.61 and 0.87 in the prospective cohort, respectively. CONCLUSION: We were able to demonstrate that brainstem-derived MR planimetric measures yield high diagnostic accuracy for the discrimination of PSP from related disorders when decision tree algorithms are applied, even at early, clinically uncertain stages. However, their diagnostic accuracy in discriminating PD and MSA was suboptimal.


Asunto(s)
Algoritmos , Imagen por Resonancia Magnética/normas , Mesencéfalo/diagnóstico por imagen , Atrofia de Múltiples Sistemas/diagnóstico por imagen , Neuroimagen/normas , Enfermedad de Parkinson/diagnóstico por imagen , Puente/diagnóstico por imagen , Parálisis Supranuclear Progresiva/diagnóstico por imagen , Anciano , Anciano de 80 o más Años , Diagnóstico Diferencial , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Neuroimagen/métodos , Estudios Prospectivos , Estudios Retrospectivos , Sensibilidad y Especificidad
15.
Neurology ; 79(3): 243-8, 2012 Jul 17.
Artículo en Inglés | MEDLINE | ID: mdl-22764253

RESUMEN

OBJECTIVE: Sporadic, genetically complex essential tremor (ET) is one of the most common movement disorders and may lead to severe impairment of the quality of life. Despite high heritability, the genetic determinants of ET are largely unknown. We performed the second genome-wide association study (GWAS) for ET to elucidate genetic risk factors of ET. METHODS: Using the Affymetrix Genome-Wide SNP Array 6.0 (1000K) we conducted a two-stage GWAS in a total of 990 subjects and 1,537 control subjects from Europe to identify genetic variants associated with ET. RESULTS: We discovered association of an intronic variant of the main glial glutamate transporter (SLC1A2) gene with ET in the first-stage sample (rs3794087, p = 6.95 × 10(-5), odds ratio [OR] = 1.46). We verified the association of rs3794087 with ET in a second-stage sample (p = 1.25 × 10(-3), OR = 1.38). In the subgroup analysis of patients classified as definite ET, rs3794087 obtained genome-wide significance (p = 3.44 × 10(-10), OR = 1.59) in the combined first- and second-stage sample. Genetic fine mapping using nonsynonymous single nucleotide polymorphisms (SNPs) and SNPs in high linkage disequilibrium with rs3794087 did not reveal any SNP with a stronger association with ET than rs3794087. CONCLUSIONS: We identified SLC1A2 encoding the major glial high-affinity glutamate reuptake transporter in the brain as a potential ET susceptibility gene. Acute and chronic glutamatergic overexcitation is implied in the pathogenesis of ET. SLC1A2 is therefore a good functional candidate gene for ET.


Asunto(s)
Temblor Esencial/genética , Proteínas de Transporte de Glutamato en la Membrana Plasmática/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Intervalos de Confianza , Transportador 2 de Aminoácidos Excitadores , Femenino , Frecuencia de los Genes , Estudio de Asociación del Genoma Completo , Genotipo , Alemania , Humanos , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Control de Calidad , Población Blanca , Adulto Joven
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