| 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 |
0.80000 |
| Impacto SJR |
0.29800 |
| 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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