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- von Scheibler, Emma N.M.M.Maastricht University (författare)
Parkinsonism in Genetic Neurodevelopmental Disorders : A Systematic Review
- Artikel/kapitelEngelska2023
Förlag, utgivningsår, omfång ...
- 2022-10-31
- Wiley,2023
Nummerbeteckningar
- LIBRIS-ID:oai:lup.lub.lu.se:f154101c-e02a-4fbf-8eb7-b11918d08258
- https://lup.lub.lu.se/record/f154101c-e02a-4fbf-8eb7-b11918d08258URI
- https://doi.org/10.1002/mdc3.13577DOI
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- Språk:engelska
- Sammanfattning på:engelska
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- Background: With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized. In this review, we aimed to provide a comprehensive overview of reports on parkinsonism in genetic neurodevelopmental disorders and summarize findings related to genetic diagnosis, clinical features and proposed disease mechanisms. Methods: A systematic literature review was conducted in PubMed and Embase on June 15, 2021. Search terms for parkinsonism and genetic neurodevelopmental disorders, using generic terms and the Human Phenotype Ontology, were combined. Study characteristics and descriptive data were extracted from the articles using a modified version of the Cochrane Consumers and Communication Review Group's data extraction template. The protocol was registered in PROSPERO (CRD42020191035). Results: The literature search yielded 208 reports for data-extraction, describing 69 genetic disorders in 422 patients. The five most reported from most to least frequent were: 22q11.2 deletion syndrome, beta-propeller protein-associated neurodegeneration, Down syndrome, cerebrotendinous xanthomatosis, and Rett syndrome. Notable findings were an almost equal male to female ratio, an early median age of motor onset (26 years old) and rigidity being more common than rest tremor. Results of dopaminergic imaging and response to antiparkinsonian medication often supported the neurodegenerative nature of parkinsonism. Moreover, neuropathology results showed neuronal loss in the majority of cases. Proposed disease mechanisms included aberrant mitochondrial function and disruptions in neurotransmitter metabolism, endosomal trafficking, and the autophagic-lysosomal and ubiquitin-proteasome system. Conclusion: Parkinsonism has been reported in many GNDs. Findings from this study may provide clues for further research and improve management of patients with GNDs and/or parkinsonism.
Ämnesord och genrebeteckningar
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Neurologi hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Neurology hsv//eng
- genetic
- intellectual disability
- neurodevelopmental disorder
- Parkinson's disease
- parkinsonism
Biuppslag (personer, institutioner, konferenser, titlar ...)
- van Eeghen, Agnies M.Emma Children’s Hospital (författare)
- de Koning, Tom J.Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,University of Groningen,University Medical Center Groningen(Swepub:lu)to2856jd (författare)
- Kuijf, Mark L.Maastricht University Medical Centre (författare)
- Zinkstok, Janneke R.University Medical Center Utrecht (författare)
- Müller, Annelieke R.Emma Children’s Hospital (författare)
- van Amelsvoort, Thérèse A.M.J.Maastricht University (författare)
- Boot, ErikMaastricht University (författare)
- Maastricht UniversityEmma Children’s Hospital (creator_code:org_t)
Sammanhörande titlar
- Ingår i:Movement Disorders Clinical Practice: Wiley10:1, s. 17-312330-1619
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- Movement Disorders Clinical Practice (Sök värdpublikationen i LIBRIS)
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