… well as later stages of ataxia with oculomotor apraxia (AOA). … neurologically by early‐onset
gait ataxia, areflexia, and … rule out a hereditary ataxia, as it could be a de novo mutation…

… and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay. J …
) Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations …

… hypoalbuminemia EAOH), also named as cerebellar ataxia, early-onset, with hypoalbuminemia
(EAOH), it is caused by homozygous or compound heterozygous mutation in the gene …

… features, including oculomotor apraxia, conjunctival telangiectasias, … early-onset ataxia
associated with intellectual disability recently found to be caused by recessive mutations …

… Ataxia with oculomotor apraxia type 1 (AOA1)/ early-onset ataxia with ocular motor apraxia
and hypoalbuminemia … ) deficiency with cerebellar ataxia are due to mutation in the APTX (…

… condition that may present with an early onset, infantile maculopathy and … ataxia with ocular
motor apraxia Type 1 (AOA1), ataxia with … have hypoalbuminemia and hypercholesterolemia. …

… AT is caused by biallelic mutations in ATM gene, which plays a … impairment (early onset
cerebellar ataxia, oculomotor apraxia, … The gene mutated in Ataxia Telangiectasia patients has …

… , and developmental delay to ataxia with oculomotor apraxia type 4. … serum AFP levels had
hypoalbuminemia. Cross-sectional … MCSZ comprises microcephaly, early-onset intractable …

… mutations may have sensory ataxia and ophthalmoplegia. Other early-onset ataxias, like
ataxia telangiectasia (AT) and ataxia … , or hypoalbuminemia are often found in those conditions. …

… caused by pathogenic variants in the ataxia-telangiectasia … characterized by cerebellar
ataxia, oculomotor apraxia, cerebellar … Additional manifestations include hypoalbuminemia and …