Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...

Two experiments studied how the age at which words are acquired (Age of Acquisition, AoA) modulates forgetting. Experiment 1 employed the retrieval-practice paradigm to test the effect of AoA on the incidental forgetting that emerges after solving competition during retrieval (i.e., retrieval-induced forgetting, RIF). Standard RIF appeared with late-acquired words, but this effect disappeared w...

Onset of the disease is often during the second year of life: there is progressive cerebellar ataxia (initially truncal, with further peripheral extend); ataxia is a constant feature in this disease; oculomotor apraxia, dysarthria, and dystonia; leading to muscular atrophia. Telangiectasia: facial region exposed to sunlight, and eyes (conjunctiva). Combined immunodeficiency (in 70 %): thymus hy...

A 54-year-old woman developed acute hypertensive encephalopathy associated with acetaminophen-induced liver failure. Examination showed blindness with absence of horizontal and vertical volitional and reflex saccades (video on the Neurology® Web site at Neurology.org, first segment). MRI showed biparieto-occipital signal abnormalities consistent with the posterior reversible encephalopathy synd...

Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which shares high homology to the yeast Sen1p protein and has been shown to play a role in the response to oxidative stress. To investigate further the function of se...