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• W2046096050 abstract "Les ataxies épisodiques sont des canalopathies autosomiques dominantes qui se traduisent par des crises paroxystiques de déséquilibre et d’incoordination. Les ataxies épisodiques sont hétérogènes sur le plan clinique et sur le plan génétique. Le type 1 (EA1) donne lieu à des épisodes brefs d’ataxie et de dysarthrie. Il est caractérisé par la présence intercritique de myokymies et est lié à l’existence de mutations ponctuelles dans le gène KCNA1 qui code pour un canal potassium voltage-dépendant. Le type 2 (EA2) se manifeste par des épisodes plus long que l’EA1, comportant une ataxie, une dysarthrie, des vertiges. Un nystagmus intercritique est souvent présent ainsi qu’une atrophie vermienne. Ce type est le plus souvent sensible à l’acétazolamide. Il est associé à la présence de mutations dans le gène CACNA1A qui code pour un canal calcium voltage-dépendant. D’autres types rares d’EA ont été décrits (EA3 à EA7). Cet article fait une synthèse des connaissances actuelles sur les ataxies épisodiques de type 1 et 2 et décrit brièvement les autres types d’EA connus à ce jour. Les mutations des gènes KCNA1 et CACNA1A sont responsables de la majorité des cas d’ataxie épisodique génétiques. Les autres types d’EA connus constituent des variants phénotypiques rares. Enfin, aucune mutation n’est détectée dans certains cas familiaux d’ataxie épisodique, ce qui est en faveur d’une plus grande hétérogénéité génétique. Episodic ataxia (EA) designates a group of autosomal dominant channelopathies that manifest as paroxysmal attacks of imbalance and incoordination. EA conditions are clinically and genetically heterogeneous. Seven types of EA have been reported so far but the majority of clinical cases result from two recognized entities. Episodic ataxia type 1 (EA1) is characterized by brief episodes of ataxia and dysarthria, and interictal myokymia. Onset occurs during the first two decades of life. Associated epilepsy has been reported in some EA1 patients. EA1 is caused by mutations of the KCNA1 gene coding for the voltage-gated potassium channel Kv1.1. Mutation is mostly missense mutations. Acetazolamide, a carbonic-anhydrase inhibitor, may reduce the frequency and severity of the attacks in some but not all affected individuals. Episodic ataxia type 2 (EA2) is characterized by episodes lasting longer than in EA1, that manifest by ataxia, dysarthria, vertigo, and also, in most of the cases, an interictal nystagmus. Other clinical features as developmental delay or epilepsy can be present in some patients. Brain MRI shows frequently a vermian atrophy. Onset occurs typically in childhood or early adolescence, but can sometimes be in adulthood. EA2 is caused by mutations in CACNA1A, a gene coding for the neuronal voltage-gated calcium channel Cav1.1. For two-thirds of the cases, mutations lead to a stop codon. This type is most often responsive to acetazolamide that reduces the frequency and severity of attacks, but does not appear to prevent the progression of interictal symptoms. This article summarizes current knowledge on episodic ataxia type 1 and 2 and describes briefly the other types of EA. Molecular analysis of KCNA1 or CACNA1A provides a confirmation of the diagnosis of EA1 and EA2. Other types remain rare phenotypic variants. Among them, only two genes have been identified: CACNB4 in EA5 and SLC1A3 in EA6 and mutations have been found in a very few cases. No mutation can be detected in some familial cases of episodic ataxia, suggesting further heterogeneity." @default.
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• W2046096050 date "2011-05-01" @default.
• W2046096050 modified "2023-09-30" @default.
• W2046096050 title "Ataxies épisodiques génétiques" @default.
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• W2046096050 doi "https://doi.org/10.1016/j.neurol.2010.10.016" @default.
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