Basal Ganglia Atrophy as a Marker for Prodromal X‐Linked Dystonia‐Parkinsonism
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DOI: 10.1002/ana.26606
Abstract: In neurodegenerative diseases, the characterization of the prodromal phase is essential for the future application of disease‐modifying therapies. X‐linked dystonia‐parkinsonism is a hereditary neurodegenerative movement disorder characterized by severe adult‐onset dystonia accompanied by parkinsonism. Distinct… read more here.
Keywords: dystonia parkinsonism; non manifesting; linked dystonia; parkinsonism ... See more keywords
Altered reward-related neural responses in non-manifesting carriers of the Parkinson disease related LRRK2 mutation
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DOI: 10.1007/s11682-018-9920-2
Abstract: Disturbances in reward processing occur in Parkinson’s disease (PD) however it is unclear whether these are solely drug-related. We applied an event-related fMRI gambling task to a group of non-manifesting carriers (NMC) of the G2019S… read more here.
Keywords: non manifesting; altered reward; manifesting carriers; parkinson disease ... See more keywords
Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study
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DOI: 10.1016/s1474-4422(19)30319-9
Abstract: BACKGROUND The Parkinson's Progression Markers Initiative (PPMI) is an ongoing observational, longitudinal cohort study of participants with Parkinson's disease, healthy controls, and carriers of the most common Parkinson's disease-related genetic mutations, which aims to define… read more here.
Keywords: healthy controls; non manifesting; parkinson disease; lrrk2 gba ... See more keywords
Actigraphy Detects Greater Intra-Individual Variability During Gait in Non-Manifesting LRRK2 Mutation Carriers.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Parkinson's disease"
DOI: 10.3233/jpd-171151
Abstract: BACKGROUND With recent advances in the search for disease-modifying therapies for Parkinson's disease (PD) the importance of identifying prodromal markers becomes greater. Non-manifesting LRRK2 mutation carriers (NMC) are at risk for developing PD, and provide… read more here.
Keywords: individual variability; non manifesting; manifesting lrrk2; intra individual ... See more keywords
Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers
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DOI: 10.3389/fneur.2021.635958
Abstract: Mutations and variants in the glucocerebrosidase (GBA) gene are among the most common genetic risk factors for the development of Parkinson's disease (PD). Yet, penetrance is markedly reduced, and less is known about the burden… read more here.
Keywords: mutation carriers; glucocerebrosidase gba; non manifesting; gba mutation ... See more keywords