نتایج جستجو برای: ataxia with ocular motor apraxia
تعداد نتایج: 9275574 فیلتر نتایج به سال:
friedreich’s ataxia (frda) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a gaa-trinucleotide repeat expansion in the first intron of frataxin gene located on chromosome 9. the clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. ataxia with ...
congenital ocular motor apraxia (COMA), is characterized by the inability to initiate horizontal saccades on command with preserved vertical eye movements and generally preserved smooth ocular pursuit.1,2 Random spontaneous saccades may be seen in some patients with ISID. Although the term ‘congenital ocular motor apraxia’ is commonly used in the medical literature, it is inaccurate because the...
Letter Mutations in genes involved in singlestrand break repair (SSBR) have been linked to hereditary cerebellar ataxias. Notably, Ataxia-oculomotor apraxia 1 (AOA1 (MIM: 2 08 920)), Spinocerebellar ataxia with axonal neuropathy 1 (SCAN1 (MIM: 6 07 250)) and Ataxia-oculomotor apraxia 4 (AOA4 (MIM: 616267616267616267)) are associated with mutations in APTX (MIM: 606350), TDP1 (MIM: 607198) and P...
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a neurodegenerative disorder caused by mutation in the aprataxin (APTX)-coding gene APTX, which involved DNA single-strand break repair (SSBR). The neurological abnormalities associated EAOH are similar to those observed patients ataxia-telangiectasia. However, immunological have not been described. In this study, we rep...
PURPOSE To determine the frequency of cerebellar and cerebral abnormalities on brain imaging studies in children with congenital ocular motor apraxia. METHODS Brain imaging studies were performed in 19 children with typical congenital ocular motor apraxia who were in the care of a visual impairment program at a children's hospital. Independent clinical review categorized the subjects as havin...
Friedreich's ataxia (FRDA) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ...
Ocular motor apraxia has been reported in bilateral frontoparietal lesions. We report a case of ocular motor apraxia after bilateral striatal infarctions. The patient had impaired voluntary saccades and smooth pursuits in the vertical and horizontal planes with an intact vestibulo-ocular reflex. Magnetic resonance imaging showed an old left putaminal infarction and an acute infarction in the ri...
Purpose: This study aimed at delineating the genetic basis of congenital ocular motor apraxia (COMA) in patients not otherwise classifiable.
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