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Title: Saccadic abnormalities as a marker of progression in the Huntington’s disease


Background: Huntington’s disease (HD) is a genetic, neurodegenerative disorder, characterized by progressive motor, cognitive and psychiatric disturbance. Clinical diagnosis of HD is made based on motor signs with a mean age of onset of 40-50 years, but in the premanifest period have been shown deterioration in saccadic eye movements.Goal: The goal of the study is to characterize saccadic abnormalities in presymptomatic and symptomatic gene carriers in different stages of HD and correlate saccadic abnormalities with motor disturbances, cognitive deterioration, atrophy of grey and abnormalities of diffusion parameters of white matter.Methods: We assessed 101 participants with genetically confirmed diagnosis of HD: 16 premanifest and 85 manifest patients and 51 healthy control subjects. Procedures included the motor, cognitive and saccadic assessment. T1 sequence and diffusion tensor magnetic resonance imaging were performed.Findings: The premanifest group showed prolonged duration of involuntary saccades. In manifest patients prolonged latency and duration, decreased velocity and amplitude of involuntary and voluntary saccades and increased error rate were noted. Saccadic abnormalities increased with the disease progression and were associated with the motor dysfunction, cognitive decline, atrophy of grey matter and abnormalities of diffusion parameters of white matter.Interpret ; ation: Saccadic abnormalities revealed in premanifest period of HD and progressed during disease duration. Saccadic assessment could be a biomarker of the disease development and progression.

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2 - studia doktoranckie

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Wydział Lekarski


Rudzińska-Bar, Monika

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tylko w bibliotece

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Last modified:

Mar 16, 2023

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Mar 13, 2017

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Edition name Date
ZB-125990 Mar 16, 2023


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