1,721,005 research outputs found
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
No full textMetabolic Ataxias in Adults.
No full textMetabolic ataxias are rare. They usually start in the childhood and often have autosomal recessive inheritance. They may also present in adulthood. The diagnosis is important since some patients may be successfully managed with diet and treatments
The occurrence of lateral shift in cervical dystonia
No full textAim of this study is to identify factors contributing the occurrence of neck lateral shift (LS) in patients with cervical dystonia (CD). A retrospective analysis focused on the treatment with botulinum toxin (BTX) was conducted on 38 consecutive idiopathic CD patients comparing subjects with and without LS. The main result was the evidence of a significantly higher BTX inter-side dose difference in patients with LS suggesting that this uncommon phenotype may be an artifact of chronic therapy with BTX
Friedreich ataxia: 150 years of bench and bedside studies
No full textFriedreich ataxia is the most frequent hereditary ataxia among Caucasians. Almost invariably, the disease is caused by homozygous GAA triplet repeat expansions in the first intron of the frataxin gene, FXN, whereas point mutations or deletions in conjunction with an expanded GAA tract account for the remaining cases. The expanded intronic alleles interfere with FXN transcription, decreasing the production of normally functioning frataxin protein to 5-20% of normal. Deficient frataxin levels result in excessive mitochondrial iron accumulation, reduced iron-sulfur clusters vital for mitochondrial energy production, and increased intracellular oxidative damage. To date, no cure has emerged and treatments remain largely supportive, despite extensive ongoing research and several rationale strategies have been attempted
Spatial and egocentric mental rotation in patients with cervical dystonia
No full textMental rotation has attracted the interest of cognitive research on dystonia, but at the moment, contrasting data are available on whether this complex cognitive ability is impaired in the disorder. Here, we assessed spatial and egocentric mental rotation in patients with cervical dystonia (CD). Patients with CD and healthy controls were required to perform a letter rotation task (spatial mental rotation) and to judge laterality of front-facing and back-facing human images (egocentric mental rotation). CD patients were selectively impaired on letter rotation, whereas they did not differ from controls when judging laterality of both front-facing and back-facing bodies. These findings support the view according to which neural circuits involved in spatial processing are dysfunctional in CD
Perseverative Behavior on Verbal Fluency Task in Patients with Huntington's Disease: a Retrospective Study on a Large Patient Sample
No full textPatients with Huntington's disease (HD) may show impairments of frontal cortical-subcortical circuits with difficulties on cognitive flexibility tasks. One marker of poor flexibility is "perseveration" behavior, which refers to inappropriate and involuntary production of iterative responses not adequate to the current task demands. This study explored frequency, type, and possible cognitive mechanisms of verbal perseverations in a large sample of HD patients. Method: A sample of 128 patients with HD underwent phonological and category verbal fluency tests to assess perseverative errors, within a wide neuropsychological, psychopathological, motor, and functional assessment. Results: Perseverative errors in verbal fluency task occurred in 89 (69.5%) patients. Patients showing perseverations scored significantly lower than patients without perseverations on tasks tapping executive and motor functions and on functional independence scales. Logistic regression analysis revealed a significant independent association of verbal perseverations with scores on Trail Making Test only. Conclusions: Verbal perseverations are frequent in HD patients and are likely related with impairments of attentional switching and working memory, hampering tracking of verbal responses already produced. Perseverative behavior may serve as a useful clinical marker of cognitive and functional impairment in patients with HD
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