… Ataxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive cerebellar ataxia
characterized by early-onset … AOA1 is related to mutations in the aprataxin (APTX) gene …

… In recessive disease, both alleles need to be mutated to cause a … and hypoalbuminemia
(AOA1, ATXAPTX), autosomal … to identify individuals with early-onset ataxia who had been …

… A previously reported pathogenic mutation in the corresponding EVOLV4 gene was … ,
associated with early-onset ataxia with oculomotor apraxia with hypoalbuminemia. The phenotype …

… The AOAs include AOA1 (early-onset cerebellar ataxia with oculomotor apraxia type 1,
ocular motor apraxia, peripheral neuropathy, and hypoalbuminemia), which is most frequent in …

… , the early onset of ataxia within the first decade in the classical form and oculomotor apraxia
… ataxia, axonal sensorimotor neuropathy, hypoalbuminemia, and hypercholesterolemia with …

… ataxia, caused by mutations in the APTX gene. The disease is characterized by early-onset
cerebellar ataxia, oculomotor apraxia … The aim of this study was to detect the disease-causing …

… ataxia, early-onset ataxia with ocular motor apraxia and hypoalbuminemia/A ataxia with
oculomotor apraxia … It should be noted that an isolated case of hereditary ataxia due to mutations …

… mutation in the ATM gene, which have been seen in early-onset generalized dystonia
and late-onset ataxia … in childhood; however, ataxia with oculomotor apraxia may be more …

… X-associated tremor/ataxia syndrome (FXTAS), caused by a … ARCAs, ie, ataxia with oculomotor
apraxia (AOA) and ataxia-… reported, like early-onset cerebellar ataxia associated with non-…

… hypoalbuminemia, or hypercholesterolemia can also be present in AOA2 patients [138].
Ataxia-telengectasia (AT) is caused by mutation in … at high risk to develop early-onset KD [166]. …