… apraxia, hypoalbuminemia, and … and nonsense mutations of APTX are believed to cause
early onset and more-severe phenotypes compared to those caused by the missense mutations.…

… Ataxia with oculomotor apraxia type1is a rare autosomal recessive disease that arises from
mutations in the APTX gene and presented with early-onset … atrophy, hypoalbuminemia and …

… Ataxia with ocular motor apraxia type 1 (AOA1) associated … (ARCA) associated with oculomotor
apraxia, hypoalbuminemia, … Friedreich ataxia is characterized by an early onset (usually …

… the specific ocular motor alterations in different ataxia subtypes… , saccadic eye movements,
and oculomotor apraxia in about … ataxia, genetically caused by TGGAA repeat mutations in the …

… with oculomotor apraxia type 1 (AOA1), and autosomal … is characterised by early-onset ataxia
accompanied by pyramidal … Ataxia can also be caused by mutations to other genes related …

… ataxias are of early onset and share spinocerebellar ataxia as the … Ocular motor apraxia is
a prominent clinical feature … Hypoalbuminemia and hypercholesterolemia are frequently found …

… compound heterozygous carriers for mutations in the kinase … syndrome associated with
hypoalbuminemia and elevated levels … AOA diseases are characterized by an early onset which …

… cerebellar ataxia, peripheral neuropathy and ocular motor apraxia, but AOA … ataxia with
ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia …

… apraxia, and peripheral neuropathy progressively leading to loss of independent walking. …
to mutations in the ATM gene, and is characterized by neurodegeneration with an early onset …

… Early‐onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations
in a new HIT superfamily gene. Nat Genet 2001; 29: 184–188. Di Prospero NA, Fischbeck KH…