نتایج جستجو برای: ataxia with ocular motor apraxia
تعداد نتایج: 9275574 فیلتر نتایج به سال:
CONTEXT Although phenotypic heterogeneity in autosomal dominant spinocerebellar ataxia (SCA) has been explained in part by genotypic heterogeneity, clinical observations suggest the influence of additional factors. OBJECTIVES To demonstrate, quantitate, and localize physiologic abnormalities attributable to nongenetic factors in the development of hereditary SCA. DESIGN Quantitative assessm...
Corticobasal degeneration is a neurodegenerative disease characterized, by cortical dysfunction and extrapyramidal signs. The most consistent symptom is a unilateral limb apraxia, which consists of an isolated disorder of gestural production involving primarily the upper limb. The objective of this study is to investigate the functional abnormalities that may underlie motor dysfunction, and tho...
PURPOSE The purpose of this report is to demonstrate a rare clinical manifestation of apraxia eyelid opening related to a basal ganglia lesion. CASE REPORT In this study, we report a 91-year-old woman suffering from difficulty in eyelid opening after being treated for myocardial ischemia with dual antiplatelet medications. She could open her eyelid with fingers touching her forehead. Brain co...
Autotrophic archaeal and bacterial ammonia-oxidisers (AOA and AOB) drive soil nitrification. Ammonia limitation, mixotrophy, and pH have been suggested as factors providing niche specialisation and differentiation between soil AOA and AOB. However, current data from genomes, cultures, field studies, and microcosms suggest that no single factor discriminates between AOA and AOB. In addition, the...
Ideomotor limb apraxia, a disorder of goal-directed movement, has been attributed to lesions in the frontal and parietal lobes, but the role of subcortical structures is less certain. In order to determine its prevalence in a disorder affecting the basal ganglia and corticostriatal connections, we examined imitation of hand gestures in Huntington's disease (HD) patients. We also assessed the re...
Objective To ascertain the genetic and functional basis of complex autosomal recessive cerebellar ataxia (ARCA) presented by 2 siblings of a consanguineous family characterized by motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectual disability, and slow ocular saccades. Methods Combined whole-genome linkage analysis, whole-exome sequencing, and focused screening for identif...
Central motor conduction to small hand muscles was measured using magnetic stimulation of the motor cortex and electrical stimulation of proximal motor roots in 11 patients with Friedreich's ataxia, 10 patients with early onset cerebellar ataxia with retained tendon reflexes (EOCA) and 13 patients with late onset degenerative cerebellar disease (LOCD). Central motor conduction was abnormal in 9...
The purpose of this study was to investigate the issue of age-limited learning effects on visual lexical decision in normal and pathological aging, by using words with different frequency trajectories and cumulative frequencies. We selected words that objectively changed in frequency trajectory from an early word count (Thorndike, 1921, 1932; Thorndike & Lorge, 1944) to a later one (Francis & K...
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