… Early onset in kuru among homozygotes is probably due to a … was ataxia telangiectasia (AT),
which is caused by mutations in … Hypoalbuminemia and hypercholesterolemia with normal …

… mutation. Other recessive ataxias in the differential diagnosis of FA include early-onset ataxia
with retained reflexes and ataxia … termed ’early-onset ataxia with oculomotor apraxia, type 1…

… hypercholesterolemia and hypoalbuminemia. … caused by a biallelic mutation in the SH3
domain and tetratricopeptide repeats 2 (SH3TC2) gene and is characterized by early onset (…

… on children presenting early-onset ataxia from Southeastern Anatolia… 3576G>A mutation is
associated with early-onset slowly … of the legs, and hypoalbuminemia. Cerebellar atrophy was …

… Friedreich’s ataxia, Ataxia-telangiectasia, Ataxia with vitamin E … The infantile RD is
distinguishable by the early onset, hepatic … gene mutations: type 1 (AOA1) is caused by mutations …

… Finally, early onset ataxia with ocular motor apraxia also shows hypoalbuminemia (… evidence,
and the fact that hypoalbuminemia can be caused by many, often more common, disorders …

… share defects in a common mechanism due to mutations in genes taking role in DNA repair.
… AT and described by earlyonset cerebellar ataxia, oculomotor apraxia, hypoalbuminemia, …

… not previously considered (eg, mutation of a different gene or … Hypoalbuminemia and
hypercholesterolemia may occur. … acids are associated with early onset and severe symptoms (eg…

… early-onset cases of progressive ataxias. In particular, mutations that cause two recessive
forms of ataxia … has even been called AOA with hypoalbuminemia). Cholesterol may also be …

… and low albumin in ataxia with oculomotor apraxia type 1, … in detecting genetic mutations
known to cause specific diseases. … a girl with slow eye movements and ataxia due to early-onset …