Unit:
Speciality Clinical NeuropsychologyLibrary of the School of Health Sciences
Author:
Giannopoulos Epameinondas
Supervisors info:
Κωνσταντίνος Πόταγας, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ, Επιβλέπων
Νικόλαος Σμυρνής, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Ιωάννης Ζαλώνης, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Investigation of cognitive impairment in Charcot-Marie-Tooth Disease Type 1A (CMT1A)
Translated title:
Investigation of Cognitive impairment in Charcot-Marie-Tooth Disease Type 1A (CMT1A)
Summary:
Charcot-Marie-Tooth type 1A (CMT1A) is a hereditary peripheral neuropathy caused by mutation in the peripheral myelin protein 22 (PMP-22). Evidence indicates the possible involvement of the Central Nervous System (CNS) in CMT1A, but literature regarding cognitive function in CMT1A is very limited. The aim of the hereby dissertation is to investigate whether patients with CMT1A present cognitive deficits. We assessed 23 CMT1A patients, with a comprehensive neuropsychological battery, including tests of memory, language and executive functions. The patients’ results were compared with these of healthy participants. Differences between the performance of patients and healthy participants were detected in specific cognitive domains while most of the cognitive functions seemed intact. Additionally, a case by case investigation revealed deficits in tests measuring cognitive flexibility and reading (decoding). The data collected provide evidence for mild cognitive deficits in CMT1A patients and support the possibility of CNS involvement in CMT1A disease.
Main subject category:
Health Sciences
Keywords:
Charcot-Marie-Tooth disease type 1A, Cognitive deficits, Executive functions, Cognitive flexibility, Decoding, CNS involvement
