Similarities between familial hemiplegic migraine and pseudomigraine with lymphocytic pleocytosis include recurrent headache with reversible neurologic deficit, cerebrospinal fluid lymphocytic pleocytosis, and triggers such as angiography. Even so, heteroduplex analysis and DNA sequencing failed to identify any sporadic mutations or shared polymorphisms in the exons or the intron/exon boundaries of the CACNA1A gene. These results do not support a role of the CACNA1A gene in the etiology of pseudomigraine with lymphocytic pleocytosis.
Friedreich ataxia (FRDA1) is an autosomal recessive condition characterized by progressive limb ataxia, cerebellar dysarthria, absent reflexes, loss of vibration and proprioception and pyramidal signs. 1 Two thirds of FRDA1 patients also have scoliosis, pes cavus and cardiomyopathy. 2,3 Typically, the disease presents gradually over months to years. ABSTRACT:Background: Friedrich ataxia (FRDA1) is most often the result of a homozygous GAA repeat expansion in the first intron of the frataxin gene (FRDA gene). This condition is seen in individuals of European, North African, Middle Eastern and Indian descent and has not been reported in Southeast Asian populations. Approximately 4% of FRDA1 patients are compound heterozygotes. These patients have a GAA expansion on one allele and a point mutation on the other and have been reported to have an atypical phenotype. Objective: To describe a novel dinucleotide deletion in the FRDA gene in two Malaysian siblings with FRDA1. Setting: Tertiary referral university hospital setting. Patients and Methods: A previously healthy 10-year-old Malaysian boy, presented with fever, lethargy, headaches, dysarthria, dysphagia, vertigo and ataxia which developed over a one week period. His neurological exam revealed evidence of dysarthria and ataxia, mild generalized weakness and choreoform movements of the tongue and hands. His reflexes were absent and Babinski sign was present bilaterally. A nine-year-old sister was found to have mild ataxia but was otherwise neurologically intact. Results: Molecular genetic studies demonstrated that both siblings were compound heterozygotes with a GAA expansion on one allele and a novel dinucleotide deletion on the other allele. Conclusions: We describe a novel dinucleotide deletion in the first exon of the FRDA gene in two siblings with FRDA1. Additionally this is the first report of FRDA1 occurring in a family of southeast Asian descent, it demonstrates intrafamilial phenotypic variability, and confirms that atypical phenotypes are associated with compound heterozygosity. RÉSUMÉ: Fratrie de Malaysie atteinte d'ataxie de Friedreich et de chorée: description d'une nouvelle délétion dans le gène de la frataxine.Introduction: L'ataxie de Friedreich (AF1) résulte la plupart du temps de la présence à l'état homozygote d'une expansion du triplet GAA dans le premier intron du gène de la frataxine. Cette maladie a été observée chez des individus d'origine européenne, Nord africaine, du Moyen Orient et de l'Inde, mais n'a jamais été rapportée chez des populations de l'Asie du Sud-Est. Chez environ 4 % des patients, il s'agit d'une double hétérozygotie composée. Ces patients ont une expansion du triplet GAAsur un allèle et une mutation ponctuelle sur l'autre. Leur phénotype serait atypique. Objectif: Décrire une nouvelle mutation, une délétion d'un dinucléotide dans le gène de l'AF1, chez deux enfants d'origine malaysienne, le frère et la soeur atteints d'ataxie de Friedreich. Cas cliniques: Un jeune garçon Malaysien âgé de 10 ans, sans antécédents médicaux,...
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