Linking autism spectrum disorders and parkinsonism: clinical and genetic association.

Autor: Mai AS; Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Yau CE; Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Tseng FS; Department of Neurology, Singapore General Hospital Campus, National Neuroscience Institute, Singapore, Singapore., Foo QXJ; Department of Neurology, Singapore General Hospital Campus, National Neuroscience Institute, Singapore, Singapore., Wang DQ; Department of Neurology, Zhujiang Hospital of Southern Medical University, Southern Medical University, Guangzhou, China., Tan EK; Department of Neurology, Singapore General Hospital Campus, National Neuroscience Institute, Singapore, Singapore.; Neuroscience and Behavioural Disorders, Duke-NUS Medical School, Singapore, Singapore.
Jazyk: angličtina
Zdroj: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Apr; Vol. 10 (4), pp. 484-496. Date of Electronic Publication: 2023 Feb 04.
DOI: 10.1002/acn3.51736
Abstrakt: Background: Autism spectrum disorders (ASD) comprise many complex and clinically distinct neurodevelopmental conditions, with increasing evidence linking them to parkinsonism.
Methods: We searched Medline and Embase from inception to 21 March 2022 and reviewed the bibliographies of relevant articles. Studies were screened and reviewed comprehensively by two independent authors.
Results: Of 863 references from our search, we included eight clinical studies, nine genetic studies, and five case reports. Regardless of age group, Parkinson's disease (PD) and parkinsonian syndromes were more frequently observed in patients with ASD, though the evidence for increased rates of parkinsonism is less clear for children and adolescents. Parkinsonian features and hypokinetic behavior were common in Rett syndrome, with prevalence estimates ranging from 40% to 80%. Frequently observed parkinsonian features include bradykinesia, rigidity, hypomimia, and gait freezing. PD gene PARK2 copy number variations appear more frequently in ASD cases than controls. Evidence suggests that RIT2 and CD157/BST1 are implicated in ASD and PD, while the evidence for other PD-related genes (DRD2, GPCR37, the SLC gene family, and SMPD1) is less clear. Rare mutations, such as ATP13A2, CLN3, and WDR45, could result in autistic behavior and concomitant parkinsonism.
Conclusion: The prevalence of parkinsonism in ASD is substantially greater than in the general population or matched controls. Various PD-associated gene loci, especially PARK2, could confer susceptibility to ASD as well. Important future directions include conducting prospective cohort studies to understand how parkinsonian symptoms may progress, genetic studies to reveal relevant gene loci, and pathophysiologic studies to identify potential therapeutic targets.
(© 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)
Databáze: MEDLINE
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