Título Neuropsychological profile associated to PKAN in its initial phase: a case series report
Autores Vintimilla Tosi, Ana Belen , Damia-Vidal, Maria , IBAÑEZ ALFONSO, JOAQUÍN ALEJANDRO, Saldana, David
Publicación externa No
Medio Neurocase
Alcance Article
Naturaleza Científica
Cuartil JCR 4
Cuartil SJR 2
Impacto JCR 0.8
Impacto SJR 0.298
Web https://www.scopus.com/inward/record.uri?eid=2-s2.0-85123486656&doi=10.1080%2f13554794.2021.2024858&partnerID=40&md5=5dcda920ceb24225af9c38c89c729f7d
Fecha de publicacion 23/01/2022
ISI 000745893500001
Scopus Id 2-s2.0-85123486656
DOI 10.1080/13554794.2021.2024858
Abstract Pantothenase kinase-associated neurodegeneration (PKAN) is characterized by an abnormal accumulation of iron in basal ganglia and progressing varied extrapyramidal clinical symptoms. There are few studies on the cognitive symptoms and their development. The aim of this study is to explore the neuropsychological profile of PKAN patients in the initial stages of the disorder, when there are relatively fewer motor limitations. we present a full neuropsychological examination of three female cases (two early and one late onset). perception and spatial cognition were within normal range. Performance on other tasks were mixed, except for primary impairments in inhibition, flexibility, and cognitive fluency, which were consistent across cases. unlike most previous studies which report adults with major motor impairment, we present cases of young participants with minor motor difficulties. The results of the neuropsychological assessment - potentially less confounded by poor motor functioning during examination - are compatible with impairments in the fronto-subcortical circuits in the early phases of the disease. This could explain frequent misdiagnoses (e.g., with attention deficit hyperactivity disorder) in initial referrals.
Palabras clave Neurodegeneration with brain iron accumulation; basal ganglia; pigmentary pallidal degeneration; neuropsychological assessment; cognitive impairment; ADHD
Miembros de la Universidad Loyola

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