… dominant mutations in genes causing early-onset disease with very … Hypoalbuminemia is
often associated. AOA 2 is … leads to progressive ataxia in childhood, oculomotor apraxia that is …

… Ataxia with ocular motor apraxia type 1 (AOA1) is another … and accompanied with some
missense mutations of FXN (2). The … with hypercholesteromia and hypoalbuminemia, while AOA …

… (V-8) to 33 yr old (V-3) and show early onset of ataxia, ranging from the age 1 (V-8) to 6–7 yr
… those that are predicted to cause loss-of-function or missense mutations are analyzed. Only …

… mutation was reported in two brothers with an early-onset … was classified as ataxia with
oculomotor apraxia type 4 (… disorders, while hypoalbuminemia and hypercholesterolemia are …

… Mutations in XRCC1 have been found to cause autosomal … Ataxia with oculomotor apraxia
(AOA) accounts for a … Early-onset cerebellar ataxia and oculomotor apraxia are typical clinical …

… of ataxia with oculomotor apraxia type 1 (AOA1); one ataxia … may be present at disease
onset; however, hypoalbuminemia… of mutations in this gene leads to spinocerebellar ataxia, …

… mutation in APTX 2 , ataxia with oculomotor apraxia type 2 (AOA2) … early-onset cerebellar
ataxia, hypometric horizontal saccades, sensorimotor neuropathy, optional hypoalbuminemia …

… 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…

… AT is caused by mutations in the ataxia telangiectasia mutated (ATM) gene, and the role of
the ATM … like disorder 2 (ATLD2), ataxia oculomotor apraxia type 1 (AOA1), ataxia oculomotor …

… Early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with
oculomotor apraxia 1 (AOA1) is an autosomal recessive disorder caused by mutations in the …