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1.
Can J Neurol Sci ; 46(5): 512-517, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31258098

RESUMO

BACKGROUND: Migraine is a common disorder most typically presenting as headache and often associated with vertigo and motion sickness. It is a genetically complex condition with multiple genes ultimately contributing to the predisposition and development of this episodic neurological disorder. We identified a large American family of 29 individuals of which 17 members suffered from at least one of these disorders, migraine, vertigo, or motion sickness. Many of these individuals suffered from several simultaneously. We hypothesized that vertigo and motion sickness may involve genes that are independent to those directly contributing to migraine susceptibility. METHODS: Genome-wide linkage analysis performed using 400 microsatellite repeat markers spaced at 10 cM throughout the genome. The members of this family were phenotyped for each condition, migraine, vertigo, and motion sickness and analyzed separately. Statistical analysis was performed using two-point and multipoint linkage analysis employing a number of models including autosomal recessive or dominant patterns of inheritance with high and low genetic penetrance. RESULTS: We identified a novel locus for migraine, 9q13-q22 (maximum two-point logarithm of odds [LOD] score-2.51). In addition, there are suggestive LOD scores that localize to different chromosomes for each phenotype; vertigo (chromosome 18, LOD score of 1.82) and motion sickness (chromosome 4, LOD score of 2.09). CONCLUSIONS: Our analysis supports our hypothesis that the migraine-associated vertigo and motion sickness may involve distinct susceptibility genes.


Analyse génétique d'une famille étendue dont les membres souffrent de migraines, de vertiges et du mal des transports. Contexte : La migraine est un trouble courant qui entraîne habituellement des maux de tête et qui est souvent associé à des vertiges et au mal des transports. Il s'agit aussi d'une condition génétique complexe en vertu de laquelle de nombreux gènes contribuent à terme à cette prédisposition et au développement de ce trouble neurologique périodique. À cet égard, nous avons identifié une famille étendue américaine comptant 29 membres. De ce nombre, 17 d'entre eux avaient souffert d'au moins un de ces troubles : des migraines, des vertiges ou le mal des transports. À noter que plusieurs d'entre eux avaient souffert de ces troubles en même temps. Nous avons émis l'hypothèse que les vertiges et le mal des transports pourraient impliquer des gènes qui sont indépendants de ceux contribuant directement à la propension aux migraines. Méthodes : Nous avons effectué une analyse de liaison au moyen de 400 marqueurs microsatellites répétés et espacés à tous les 10 cm au sein de l'ensemble du génome des membres de cette famille. Les membres de cette famille ont été « phénotypés ¼ pour chaque type de trouble (les migraines, les vertiges et le mal des transports) et ont été ensuite analysés de façon séparée. Nous avons effectué une analyse statistique au moyen de l'analyse de liaison multipoint et à deux points, utilisant pour ce faire un certain nombre de modèles, par exemple le modèle autosomique récessif ou des patterns dominants de transmission avec une pénétrance génétique élevée ou faible. Résultats : Nous avons été en mesure d'identifier un nouveau locus dans le cas de la migraine : 9q13-q22 (maximum 2-points ; score au logarithme des probabilités ou LOD : - 2,51). De plus, il est des scores révélateurs au logarithme des probabilités qui permettent de localiser divers chromosomes pour chaque phénotype : vertiges (chromosome 18 ; score au logarithme des probabilités ou LOD : 1,82) et mal des transports (chromosome 4 ; score au logarithme des probabilités ou LOD : 2,09). Conclusions : Notre analyse confirme ainsi notre hypothèse initiale, à savoir que les cas de migraine auxquels sont associés des vertiges et le mal des transports pourraient très bien impliquer différents gènes de susceptibilité.


Assuntos
Predisposição Genética para Doença/genética , Transtornos de Enxaqueca/genética , Enjoo devido ao Movimento/genética , Vertigem/genética , Adolescente , Criança , Feminino , Ligação Genética , Humanos , Masculino , Linhagem , Adulto Jovem
2.
Acta Otolaryngol ; 125(2): 145-7, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15880944

RESUMO

CONCLUSION: The result of the DH maneuver does not appear to be affected by the time of day at which it is performed. OBJECTIVE. To determine whether the time of day at which the Dix-Hallpike (DH) maneuver is performed influences the result. MATERIAL AND METHODS: This was a retrospective study. We reviewed the records of all electronystagmagrams (n = 1220) performed at our facility between January 2001 and January 2003, looking at the results of the DH maneuver, the medical history of the patients and the time of day of the test. The distribution of the time of day at which the DH maneuver was performed and induced a positive response was compared to the distribution of the time of day at which all the tests were performed. RESULTS: The distribution of the times during the day when the DH maneuver was positive was not statistically different from that when the DH maneuver was negative.


Assuntos
Ritmo Circadiano , Eletronistagmografia , Postura , Vertigem/diagnóstico , Vertigem/fisiopatologia , Testes Calóricos , Eletronistagmografia/métodos , Humanos , Estudos Retrospectivos , Canais Semicirculares/fisiopatologia , Tempo , Vertigem/etiologia
3.
J Neurol Sci ; 210(1-2): 65-71, 2003 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-12736091

RESUMO

BACKGROUND: The ratios of abducting to adducting eye movements (versional dysconjugacy index, VDI) for saccadic velocity and acceleration have been useful measures by which to objectively characterize internuclear ophthalmoparesis (INO). Amplitude measures of dysconjugacy have been less useful, given that many patients maintain the ability to ultimately reach a centrifugal fixation target and that traditional amplitude measures of VDI have focused on this 'final amplitude' (FA) position. METHODS: We utilized infrared oculography to define a new amplitude measure of dysconjugacy in 42 multiple sclerosis (MS) patients with INO. The first-pass amplitude (FPA)-VDI is the ratio of abduction/adduction eye movement amplitudes computed at the time when the abducting eye initially achieves the centrifugal horizontal fixation target. RESULTS: FPA-VDI values were significantly more sensitive and specific than FA-VDI values in demonstrating dysconjugacy in INO, and there was a 14-fold increase in dysconjugacy as measured by FPA-VDI Z-scores when compared to FA-VDI Z-scores. CONCLUSION: Consideration of velocity (pulse) and amplitude (step) components of dysconjugacy in patients with INO can provide a greater understanding of the dynamic aspects of this syndrome. We propose to characterize the relationship between the pathophysiology of INO and neuroradiologic measures of tissue injury in MS.


Assuntos
Técnicas de Diagnóstico Oftalmológico , Movimentos Oculares , Esclerose Múltipla/fisiopatologia , Transtornos da Motilidade Ocular/fisiopatologia , Eletroculografia/métodos , Fixação Ocular/fisiologia , Humanos , Esclerose Múltipla/complicações , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/etiologia , Tempo de Reação , Sensibilidade e Especificidade , Pesos e Medidas
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