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2.
Eur J Neurol ; 23(5): 973-8, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26915334

RESUMEN

BACKGROUND AND PURPOSE: Deficits in cognition have been reported in Parkinson's disease (PD) already in the early and even in the pre-motor stages. Whilst substantia nigra hyperechogenicity measured by transcranial B-mode sonography (TCS) represents a strong PD marker and is associated with an increased risk for PD in still healthy individuals, its association with cognitive performance in prodromal PD stages is not well established. METHODS: Two different cohorts of healthy elderly individuals were assessed by TCS and two different neuropsychological test batteries covering executive functions, verbal memory, language, visuo-constructional function and attention. Cognitive performance was compared between individuals with hyperechogenicity (SN+) and without hyperechogenicity (SN-). RESULTS: In both cohorts, SN+ individuals performed significantly worse than the SN- group in tests assessing verbal memory (word list delayed recall P = 0.05, logical memory II P < 0.017). Significant differences in Mini-Mental State Examination score (cohort 1, P = 0.02) and executive function tests (cohort 2, Stroop Color-Word Reading, P = 0.004) could only be shown in one of the two cohorts. No between-group effects were found in other cognitive tests and domains. CONCLUSIONS: These results indicate that individuals with the PD risk marker SN+ perform worse in verbal memory compared to SN- independent of the assessment battery. Memory performance should be assessed in detail in individuals at risk for PD.


Asunto(s)
Cognición/fisiología , Función Ejecutiva/fisiología , Memoria/fisiología , Sustancia Negra/diagnóstico por imagen , Ultrasonografía Doppler Transcraneal/métodos , Anciano , Atención/fisiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas
3.
Eur J Neurol ; 23(3): 520-6, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26549049

RESUMEN

BACKGROUND AND PURPOSE: To date the role of GBA mutations beyond α-synucleinopathies in the parkinsonism-dementia spectrum is still unclear. The aim of the study was to screen for GBA mutations in progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), primary progressive aphasia (PPA) and the behavioural variant of frontotemporal dementia (bvFTD). METHODS: In all, 303 patients with a clinical diagnosis of PSP (n = 157), CBS (n = 39), PPA (n = 35) and bvFTD (n = 72) and 587 neurologically healthy controls were screened for the most common GBA mutations. RESULTS: GBA mutations were detected in one healthy control and four patients with a clinical diagnosis of PSP (n = 1), probable CBS (n = 2) and PPA (n = 1, with concomitant C9orf72 expansion). Overall the prevalence of GBA mutations was low in non-α-synucleinopathies but significantly higher in the CBS subgroup compared to controls. CONCLUSION: Although numbers are small, our findings indicate that the clinical phenotype of GBA-associated neurodegenerative disease is more heterogeneous than previously assumed, including phenotypes not usually associated with underlying α-synucleinopathies. This may be of relevance, once causal therapeutic strategies for GBA-associated neurodegenerative disease are developed.


Asunto(s)
Afasia Progresiva Primaria/genética , Enfermedades de los Ganglios Basales/genética , Demencia Frontotemporal/genética , Glucosilceramidasa/genética , Anciano , Afasia Progresiva Primaria/fisiopatología , Enfermedades de los Ganglios Basales/fisiopatología , Femenino , Demencia Frontotemporal/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Mutación , Fenotipo , Parálisis Supranuclear Progresiva/genética , Parálisis Supranuclear Progresiva/fisiopatología
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