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
Spectrum of Clinical Features in XL-MTM Carriers: An International Questionnaire Study.
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DOI: 10.1212/wnl.0000000000012236
Abstract: OBJECTIVE To characterize the spectrum of clinical features in a cohort of X-linked myotubular myopathy (XL-MTM) carriers, including prevalence, genetic features, clinical symptoms and signs, as well as associated disease burden. METHODS We performed a… read more here.
Keywords: questionnaire study; clinical features; manifesting carriers; spectrum clinical ... See more keywords