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expansions in FXN that severely reduce gene expression, with loss of frataxin function (Campuzano et al., 1996). In contrast to Friedreich’s ataxia , in CANVAS and RFC1 mutation-positive cerebellar ataxia ...
characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data . Lancet Neurol 2015 ; 14 : 174 – 82 . Google Scholar Crossref ...
Google Scholar Crossref Search ADS PubMed WorldCat 21 Jitpimolmard S Small J King RHM, et al. . The sensory neuropathy of Friedreich’s ataxia : an autopsy study of a case with prolonged survival . Acta ...
dysfunction , vestibular involvement and cough coexist. sensory neuropathy, cerebellar ataxia , neuropathy, vestibular areflexia syndrome (CANVAS), chronic cough, RFC1, repeat expansion See Paisán-Ruiz and Jen ...
and bulbocavernosus reflex studies ; autonomic function tests; brainstem, visual, somatosensory, and motor evoked potentials; auditory and vestibular testing; metabolic and molecular genetic testing; and muscle ...
studies , the presence of oscillopsia was reported in part of patients with Friedreich ataxia [11], SCA-3 [10] and other spinocerebellar ataxias [9], although the prevalence was lower. Zeigelboim et al ...
Abstract Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion ...
in Friedreich’s ataxia (Hugheset al., 1968). With regard to the condition of the neurones in the spinal cord, including motor cells, Orozcoet al. (1989) described motor neurones as smaller than normal and decreased ...
in Tourette’s syndrome, the motor symptoms are also linked to a dysfunction of the striatal cholinergic system.157,158 Preclinical evidence for this idea stems from studies showing that targeted ablation of 50 ...
(16). The defining clinical feature is worsening ataxia due to progressive cerebellar and brainstem dysfunction . At presentation and early in the disease course, patients frequently suffer from gait ...
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