… hypoalbuminemia, or hypercholesterolemia can also be present in AOA2 patients [138].
Ataxia-telengectasia (AT) is caused by mutation in … at high risk to develop early-onset KD [166]. …

… of AT caused by mutations in the ataxia-telangiectasia mutated (… Ataxia with oculomotor
apraxia type 2 (AOA2) is … (ARSACS) is characterized by early-onset ataxia between age 1 and 14 …

… gene mutations … due to significant clinicopathological overlap, although PNLD patients
typically present at a younger age (57 vs 65 years in PSP), with gait freezing and eyelid apraxia, …

… PNKP mutations, as does ataxia with oculomotor apraxia 4 (… Both diseases have early onset,
with AOA4 being the earliest (… Given that the disease-causing mutations in PNKP result in …

… Ataxia-telangiectasia is caused by mutations in ATM gene [60… AOA1 patients have
hypoalbuminemia and hypercholesterolemia… GPR88 mutation typically present with early onset …

… The RFC1 expansion causes cerebellar ataxia, neuropathy, and vestibular areflexia … is
early-onset ataxia with oculomotor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia …

… fatal congenital heart glycogenosis due to mutation in PRKAG both with … Transaldolase
deficiency and early onset forms of … ataxia (or gait dyspraxia) as the only finding. In these cases, …

… , 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 …

… 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 …

… associated with recessive ataxia with oculomotor apraxia type 4 … that lymphedema was
secondary to hypoalbuminemia [15]. … the late age of onset of the neuropathy in our PNPK mutated …