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- W2080864649 abstract "<h3>Background</h3> Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease caused by<i>SETX</i>mutations in 9q34 resulting in cerebellar ataxia in association with peripheral neuropathy, cerebellar atrophy on imaging, an elevated α-fetoprotein (AFP) serum level, and occasional oculomotor apraxia. <h3>Objective</h3> To describe the clinical and molecular findings of 7 patients with a clinical presentation of AOA2 and their relatives. <h3>Design</h3> Case report. <h3>Setting</h3> Projet Hospitalier de Recherche Clinique. <h3>Patients</h3> Seven patients with AOA2 and their family members. <h3>Intervention</h3> Linkage analysis and direct sequencing of all exons of<i>SETX</i>were performed in all patients. Magnetic resonance imaging and electroneuromyography were performed and the patients' AFP serum levels were tested. <h3>Results</h3> We identified 7 patients with AOA2 from 4 unrelated families. Three novel<i>SETX</i>mutations were found. The clinical picture of the patients reported is fairly homogeneous and in accordance with the classic AOA2 presentation: onset from 13 to 18 years of progressive cerebellar ataxia and areflexia. Oculomotor apraxia was detected in 1 patient. Predominant axonal neuropathy and a diffuse cerebellar atrophy were found in the 4 patients tested. All patients had elevated AFP serum levels and 5 of 8 nonsymptomatic heterozygous relatives had moderately increased AFP serum levels as well. <h3>Conclusions</h3> Ataxia with oculomotor apraxia type 2 is a homogeneous form of cerebellar ataxia with occasional oculomotor apraxia. Most nonsymptomatic heterozygous carriers present with increased AFP serum levels." @default.
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- W2080864649 date "2008-07-01" @default.
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- W2080864649 title "Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families" @default.
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- W2080864649 doi "https://doi.org/10.1001/archneur.65.7.958" @default.
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