0000000000745358

AUTHOR

K Alner

showing 2 related works from this author

Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutation

2012

Background The human prion diseases are a group of universally fatal neurodegenerative disorders associated with the auto-catalytic misfolding of the normal cell surface prion protein (PrP). Mutations causative of inherited human prion disease (IPD) include an insertion of six additional octapeptide repeats (6-OPRI) and a missense mutation (P102L) with large families segregating for each mutation residing in southern England. Here we report for the first time the neuropsychological and clinical assessments in these two groups. Method The cognitive profiles addressing all major domains were obtained for 26 patients (18 6-OPRI, 8 P102L) and the cortical thickness determined using 1.5T MRI in …

AdultMalePathologymedicine.medical_specialtyPrionsprion diseaseNeuroimagingDiseaseNeuropsychological Testsmedicine.disease_causePrion DiseasesExecutive FunctionYoung AdultHumansMedicineDementiaMissense mutationStrokeMemory DisordersMutationSettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicabusiness.industryGenetic heterogeneityNeuropsychologyBrainMiddle Agedmedicine.diseaseMagnetic Resonance ImagingUnited KingdomMutagenesis InsertionalPsychiatry and Mental healthFemaleSurgeryNeurology (clinical)Cognition DisordersbusinessExecutive dysfunctionJournal of Neurology, Neurosurgery and Psychiatry
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The neuropsychology of variant CJD: a comparative study with inherited and sporadic forms of prion disease.

2005

Objective: To assess cognitive function in variant Creutzfeldt-Jakob disease (vCJD). We describe the neuropsychological profiles of 10 cases and compare these data with cross sectional data obtained from patients with histologically confirmed sporadic CJD and cases with inherited prion disease with confirmed mutations in the prion protein gene. Methods: Patients referred to the Specialist Cognitive Disorders Clinic at the National Hospital for Neurology and Neurosurgery and the National Prion Clinic at St Mary's Hospital, London for further investigation of suspected CJD were recruited into the study. The neuropsychological test battery evaluated general intelligence, visual and verbal memo…

AdultMalePaperPediatricsmedicine.medical_specialtyPrionsanimal diseasesDNA Mutational AnalysisNeuropsychological TestsCreutzfeldt-Jakob SyndromePrion DiseasesNational Prion Clinicmental disordersmedicineDementiaHumansCognitive declinePsychiatrymedicine.diagnostic_testSettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicabusiness.industryNeuropsychologyNeuropsychological testCreutzfeldt-Jakob SyndromeMiddle Agedmedicine.diseasenervous system diseasesPsychiatry and Mental healthCross-Sectional StudiesAdult Cognition Disorders/etiology Creutzfeldt-Jakob Syndrome/complications Creutzfeldt-Jakob Syndrome/genetics Creutzfeldt-Jakob Syndrome/psychology Cross-Sectional Studies DNA Mutational Analysis Disease Progression Female Humans Male Middle Aged Neuropsychological Tests Prion Diseases/genetics Prion Diseases/psychology Prions/genetics Visual PerceptionDisease ProgressionVisual PerceptionSurgeryFemaleNeurology (clinical)Verbal memorybusinessCognition DisordersExecutive dysfunctionJournal of neurology, neurosurgery, and psychiatry
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