… However, the patient was re-diagnosed with EAOH as the disease-causing mutation was
reported in APTX instead of ATM. Additionally, the patient exhibited reduced levels of CD4 + T …

… by early-onset ataxia and oculomotor apraxia caused by … and oculomotor apraxia, accompanied
by hypoalbuminemia … telangiectasia (AT), MRE11A gene mutations (AT-like) and AOA1. …

… mutation, His251Tyr, due to c.… mutations were found to have reduced ocular motor apraxia
and no cognitive impairment, whereas patients with early-onset ataxia and hypoalbuminemia …

… impairment and hypoalbuminemia, hypercholesterolemia were … cause in a Chinese patient
with AOA1. A new frameshift … in the differential diagnosis of early-onset ataxia even in the …

… This is caused by a mutation in the APTX gene, which encodes the … The loss of function of
this protein causes the repair of single-… in early-onset ataxia with ocular motor apraxia and …

… to ataxia, global developmental delay, ocular motor apraxia, and … AOA1 is caused by
mutations in the APTX gene which … characterised by early-onset progressive cerebellar ataxia, …

… ataxia with oculomotor apraxia type 1 (AOA1) caused by mutations in APTX AOA4 (PNKP),
spinocerebellar ataxia … most frequent ARCA, named early-onset AOA and hypoalbuminemia. …

… impairment and hypoalbuminemia, hypercholesterolemia … the differential diagnosis of
early-onset ataxia even in the absence … Spinocerebellar ataxia with ocular motor apraxia and DNA …

… on MRI, serum hypoalbuminemia, hypercholesterolemia, and … Early onset clinical presentation
is characterized by … by dysarthria, dysphagia, ocular motor apraxia, neuropathy, normal …

… ataxias are of early onset and share spinocerebellar ataxia as the … Ocular motor apraxia is
a prominent clinical feature … Hypoalbuminemia and hypercholesterolemia are frequently found …