FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3202496055> ?p ?o ?g. }

• W3202496055 endingPage "161" @default.
• W3202496055 startingPage "148" @default.
• W3202496055 abstract "Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration.The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported.We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review.PLA2G6-related parkinsonism shows a fairly distinct phenotype based on 86 cases from 68 pedigrees. Young onset (median age, 23.0 years) with parkinsonism/dystonia, gait/balance, and/or psychiatric/cognitive symptoms were common presenting features. Dystonia occurred in 69.4%, pyramidal signs in 77.2%, myoclonus in 65.2%, and cerebellar signs in 44.6% of cases. Early bladder overactivity was present in 71.9% of cases. Cognitive impairment affected 76.1% of cases and psychiatric features 87.1%, the latter being an isolated presenting feature in 20.1%. Parkinsonism was levodopa responsive but complicated by early, often severe dyskinesias. Five patients benefited from deep brain stimulation. Brain magnetic resonance imaging findings included cerebral (49.3%) and/or cerebellar (43.2%) atrophy, but mineralization was evident in only 28.1%. Presynaptic dopaminergic terminal imaging was abnormal in all where performed. Fifty-four PLA2G6 mutations have hitherto been associated with parkinsonism, including four new variants reported in this article. These are mainly nontruncating, which may explain the phenotypic heterogeneity of childhood- and late-onset PLA2G6-associated neurodegeneration. In five deceased patients, median disease duration was 13.0 years. Brain pathology in three cases showed mixed Lewy and tau pathology.Biallelic PLA2G6 mutations cause early-onset parkinsonism associated with dystonia, pyramidal and cerebellar signs, myoclonus, and cognitive impairment. Early psychiatric manifestations and bladder overactivity are common. Cerebro/cerebellar atrophy are frequent magnetic resonance imaging features, whereas brain iron deposition is not. Early, severe dyskinesias are a tell-tale sign. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society." @default.
• W3202496055 created "2021-10-11" @default.
• W3202496055 creator A5000831279 @default.
• W3202496055 creator A5010587672 @default.
• W3202496055 creator A5010708791 @default.
• W3202496055 creator A5011779453 @default.
• W3202496055 creator A5014154219 @default.
• W3202496055 creator A5015172559 @default.
• W3202496055 creator A5018764045 @default.
• W3202496055 creator A5019413009 @default.
• W3202496055 creator A5020514779 @default.
• W3202496055 creator A5022662261 @default.
• W3202496055 creator A5026045963 @default.
• W3202496055 creator A5029956142 @default.
• W3202496055 creator A5033055839 @default.
• W3202496055 creator A5038282486 @default.
• W3202496055 creator A5048051601 @default.
• W3202496055 creator A5049101738 @default.
• W3202496055 creator A5062329709 @default.
• W3202496055 creator A5063134863 @default.
• W3202496055 creator A5070987847 @default.
• W3202496055 creator A5071626950 @default.
• W3202496055 creator A5076016774 @default.
• W3202496055 creator A5079257891 @default.
• W3202496055 creator A5082051712 @default.
• W3202496055 creator A5087543655 @default.
• W3202496055 creator A5091072760 @default.
• W3202496055 date "2021-10-08" @default.
• W3202496055 modified "2023-10-18" @default.
• W3202496055 title "Dissecting the Phenotype and Genotype of <scp> <i>PLA2G6</i> </scp> ‐Related Parkinsonism" @default.
• W3202496055 cites W1970256777 @default.
• W3202496055 cites W1978659393 @default.
• W3202496055 cites W1983765627 @default.
• W3202496055 cites W1986038061 @default.
• W3202496055 cites W1991095722 @default.
• W3202496055 cites W1992180647 @default.
• W3202496055 cites W2017091075 @default.
• W3202496055 cites W2036219618 @default.
• W3202496055 cites W2036660054 @default.
• W3202496055 cites W2041365997 @default.
• W3202496055 cites W2044474129 @default.
• W3202496055 cites W2051978340 @default.
• W3202496055 cites W2053606072 @default.
• W3202496055 cites W2056363797 @default.
• W3202496055 cites W2057512080 @default.
• W3202496055 cites W2066654932 @default.
• W3202496055 cites W2068916100 @default.
• W3202496055 cites W2083681924 @default.
• W3202496055 cites W2090763282 @default.
• W3202496055 cites W2092549579 @default.
• W3202496055 cites W2094300224 @default.
• W3202496055 cites W2097132970 @default.
• W3202496055 cites W2098586075 @default.
• W3202496055 cites W2109762591 @default.
• W3202496055 cites W2114484563 @default.
• W3202496055 cites W2132629607 @default.
• W3202496055 cites W2139175459 @default.
• W3202496055 cites W2164217120 @default.
• W3202496055 cites W2255931585 @default.
• W3202496055 cites W2262997523 @default.
• W3202496055 cites W2326877902 @default.
• W3202496055 cites W2407708717 @default.
• W3202496055 cites W2409521188 @default.
• W3202496055 cites W2417123308 @default.
• W3202496055 cites W2469937407 @default.
• W3202496055 cites W2529759994 @default.
• W3202496055 cites W2552120990 @default.
• W3202496055 cites W2560030718 @default.
• W3202496055 cites W2571468873 @default.
• W3202496055 cites W2606228610 @default.
• W3202496055 cites W2614789885 @default.
• W3202496055 cites W2747073707 @default.
• W3202496055 cites W2790293805 @default.
• W3202496055 cites W2791527428 @default.
• W3202496055 cites W2794117810 @default.
• W3202496055 cites W2809474853 @default.
• W3202496055 cites W2885597247 @default.
• W3202496055 cites W2890495568 @default.
• W3202496055 cites W2897487653 @default.
• W3202496055 cites W2916533353 @default.
• W3202496055 cites W2923751963 @default.
• W3202496055 cites W2938574745 @default.
• W3202496055 cites W2939384569 @default.
• W3202496055 cites W2950453599 @default.
• W3202496055 cites W2965272650 @default.
• W3202496055 cites W2975396107 @default.
• W3202496055 cites W3007304250 @default.
• W3202496055 cites W3011170462 @default.
• W3202496055 cites W3042602894 @default.
• W3202496055 cites W3123266661 @default.
• W3202496055 cites W3154194274 @default.
• W3202496055 cites W4231325736 @default.
• W3202496055 cites W4232083602 @default.
• W3202496055 cites W4249303500 @default.
• W3202496055 cites W4255979887 @default.
• W3202496055 cites W880442407 @default.
• W3202496055 doi "https://doi.org/10.1002/mds.28807" @default.
• W3202496055 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34622992" @default.

• next