… 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 …

… Ataxia with oculomotor apraxia type1 (AOA1) is rare a cause of autosomal recessive … The
relation of genotype with early onset ataxia, oculomotor apraxia and hypoalbuminemia were …

… of the APTX mutation, AOA1 was known as early-onset ataxia with OMA and hypoalbuminemia
(… EAOH is reportedly the most common cause of autosomal recessive hereditary ataxia in …

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

… ataxia due to mutations in the aprataxin gene (APTX) that is characterized by early-onset
cerebellar ataxia, oculomotor apraxia, axonal … ataxia with hypoalbuminemia and/or early-onset …

… 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 …

… (caused by GOSR2 mutation), who initially present with … Saccade initiation delay (ocular
motor apraxia) Delayed initiation of … Supporting biochemical changes include low albumin, and …

… AOA type 1 is characterized by an early-onset ataxia, low albumin levels and
hypercholesterolemia. AOA type 2, the result of a mutation in the SETX gene (product senataxin), …