Céline Chamayou

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Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently. We studied a large series of 158 families with non-Friedreich progressive ARCA. We identified 14 patients (nine(More)
Ataxia with oculomotor apraxia type 2 (AOA2) is a newly described autosomal recessive cerebellar ataxia (ARCA) defined by genetic location to 9q34 of three families sharing gait ataxia, oculomotor apraxia and/or elevated alpha-foetoprotein (AFP) levels. We have evaluated 77 families with progressive non-Friedreich ARCA and have identified six families with(More)
Mild cognitive impairment (MCI) is a concept that was introduced by Flicker et al and the Mayo Clinic group to fill the gap between cognitive changes associated with normal aging and those associated with dementia. The concept of MCI draws attention to cognitive disturbances that occur before the clinical diagnosis of dementia. The cognitive changes,(More)
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