… 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, …

… with early onset cardiomyopathy and non-progressive ataxia. The … features including ataxia
and is caused by mutations in the … Ataxia with oculomotor apraxia and hypoalbuminemia, (…

… 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. …

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

… early onset intractable seizures (MCSZ) and developmental delay and ataxia with oculomotor
apraxia … variable association of hypercholesterolemia, hypoalbuminemia and high levels of …

… ataxia being the most common movement disorder at onset [12] Mitochondrial disorders can
be caused by mutations … symmetric muscle weakness, oculomotor apraxia, and mild loss of …

… mutations were initially discovered to be the cause of the severe nonprogressive syndrome
microcephaly, early-onset … Hypoalbuminemia and hypercholesterolemia were present before …

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

… sensory loss along with hypoalbuminemia, high cholesterol … was found to have XRCC1 gene
mutation (Hoch et al. 2017). … cerebellar ataxia associated with ocular motor apraxia and in …

… The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein …
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new …