نتایج جستجو برای: ataxia with ocular motor apraxia
تعداد نتایج: 9275574 فیلتر نتایج به سال:
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...
A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most freq...
ataxia oculomotor apraxia1(aoa1) is the most frequent cause of autosomal-recessive cerebellar ataxia in japan,but it is reported from all of the world. the presentation is nearly identical to that of at without the non-neurological features,and accounts for up to 10% of autosomal-recessive cerebellar ataxias.gait imbalance and dysarthria are typical presenting features,oculomotor apraxia typica...
Joubert syndrome (JS) is a rare autosomal dominant gene disorder that heterogeneously inherited and manifests itself as hypotonia, ataxia, breathing abnormalities, developmental delay, intellectual disabilities, oculomotor apraxia, brain malformation [1-3].
Nicte I. Mejia MD* Soojin Park, MD* MingMing Ning, MD Ferdinando S. Buonanno, MD The syndrome of ocular apraxia, simultagnosia, and optic ataxia originally described by Balint in 1909 is classically associated with bilateral parieto-occipital lesions, but can occur with other combinations of bihemispheric lesions.1,2 This syndrome reflects multiple etiologies, most commonly vascular disease, bu...
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequen...
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...
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