… Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia APTX 9p13.3
Aprataxin AR. Onset around age 7 with … Premutations can cause fragile X ataxia syndrome …

… in renal impairment due to the effect of hypoalbuminemia on its … more beneficial in those
patients with early onset symptoms [71]. … Gluten ataxia (GA) is defined as a sporadic ataxia with …

… , a spontaneous recessive mutation that causes early cerebellar ataxia and is associated …
One of the main phenotypic hallmarks of the pcd mutation in mice is early-onset cerebellar …

… motor apraxia 1 (AOA1), respectively, while mutations in PNKP … with seizures (MCSZ) and
Ataxia-ocular motor apraxia 4 (AOA4). … hypoalbuminemia and hypercholesterolemia. SCAN1 is …

… of their clinical diagnosis of early-onset spinocerebellar ataxia and because their … Ocular
motor apraxia … the compound heterozygous mutations of the present cases might cause mild …

… , spinocerebellar ataxia; SEOAN, severe early-onset axonal … (605610) Dystonia and ataxia,
oculomotor apraxia; onset in … an early onset, and is usually caused by a recessive mutation …

… Here, we present a patient with early-onset progressive ataxia… have hypercholesterolemia
and hypoalbuminemia. AFP is … mutations in the ataxia-telangiectasia mutated (ATM ) gene. …

… Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations
in … Ataxia-ocular motor apraxia: a syndrome mimicking ataxiatelangiectasia. Ann Neurol 1988;…

… identified with PPOX mutations, being a frequent cause of AHP … genetic screening for patients
with early onset epilepsy and/or … are motor and cognitive regression, seizures, ataxia and …