We present the pre to post bilateral globus pallidus interna (GPi) deep brain stimulation neuropsychological profiles of a 69-year-old patient with a 12-year history of X-linked dystonia-Parkinsonism (XDP). Pre-operative cognitive function was impaired in almost all domains and this impaired performance was not dependent on his medications. Following DBS, changes in neuropsychological functioning were examined using Reliable Change Indices and standardized z-score comparisons. Results showed reductions in processing speed in the context of stable performance in language and visuospatial domains. Post-operative improvements occurred on a cognitive screening measure, verbal memory, and a test of problem-solving skills. This is the first report on an individual with XDP who was cognitively impaired, but had good outcome following GPi bilateral stimulation to treat debilitating motor symptoms. The possible mechanisms for his stable cognitive performance include the target of his DBS, reduced medication dosage, and improvement in dystonia that may in turn have reduced patient's pain.
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http://dx.doi.org/10.1080/13854046.2010.532812 | DOI Listing |
Int J Mol Sci
January 2025
Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder that causes a range of developmental problems including cognitive and behavioral impairment and learning disabilities. FXS is caused by full mutations (FM) of the gene expansions to over 200 repeats, with hypermethylation of the cytosine-guanine-guanine (CGG) tandem repeated region in its promoter, resulting in transcriptional silencing and loss of gene function. Female carriers of FM are typically less impaired than males.
View Article and Find Full Text PDFBiomolecules
January 2025
Department of Neurology, Medical University of Lodz, Kopcinskiego 22, 90-153 Lodz, Poland.
Despite significant efforts, there is still an existing need to identify diagnostic tools that would enable fast and reliable detection of the progressive stage of multiple sclerosis (MS) and help in monitoring the disease course and/or treatment effects. The aim of this prospective study in a group of people with progressive MS was to determine whether changes in the levels of selected serum biomarkers and in cognitive function may predict disease progression, and therefore refine the decision-making process in the evaluation of MS patients. Forty two (42) patients with progressive MS completed all the study procedures; the mean duration of follow-up was 12.
View Article and Find Full Text PDFBehav Brain Res
January 2025
Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Von-Siebold-Str. 5, 37075 Göttingen, Germany.
Background: Neural autoantibodies are being increasingly detected in conjunction with neurodegenerative dementias such as Alzheimer's disease dementia (AD), yet their significance is not well clarified. In this case report, we report the previously unreported long-lasting persistence of potassium voltage-gated channel subfamily A member 2 (KCNA2) antibodies in biomarker-supported AD.
Methods: We report on a 77-year-old, male patient evaluated in our outpatient memory clinic of the Department of Psychiatry and Psychotherapy, University Medical Center Göttingen.
Brain Commun
January 2025
Institute and Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China.
Early-onset Alzheimer's disease constitutes ∼5-10% of Alzheimer's disease. Its clinical characteristics and biomarker profiles are not well documented. To compare the characteristics covering clinical, neuropsychological and biomarker profiles between patients with early- and late-onset Alzheimer's disease, we enrolled 203 patients (late-onset Alzheimer's disease = 99; early-onset Alzheimer's disease = 104) from a Chinese hospital-based cohort, the Shanghai Memory Study.
View Article and Find Full Text PDFBJPsych Open
January 2025
Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada; Department of Psychiatry, Temerty Faculty of Medicine, University of Toronto, Canada; Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Canada; Department of Psychology, Faculty of Arts & Science, University of Toronto, Canada; Department of Psychiatry, The Hospital for Sick Children, Toronto, Canada; Autism Research Centre, Department of Psychiatry, University of Cambridge, UK; Department of Psychiatry, National Taiwan University Hospital, Taiwan; and Department of Psychiatry, National Taiwan University College of Medicine, Taiwan.
Background: Differences in social behaviours are common in young people with neurodevelopmental conditions (NDCs). Recent research challenges the long-standing hypothesis that difficulties in social cognition explain social behaviour differences.
Aims: We examined how difficulties regulating one's behaviour, emotions and thoughts to adapt to environmental demands (i.
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