نتایج جستجو برای: ataxia oculomotor apraxia 1 aoa1
تعداد نتایج: 2770963 فیلتر نتایج به سال:
We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C) in AFG3L2, encoding a subunit of an...
BACKGROUND Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein (AFP) levels. The disease is caused by a recessive mutation in the senataxin gene. Since it is a very rare cerebellar disorder, no detailed examination of cognitive functions in AOA2 has been published to date. The aim of...
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...
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