Background: 22q11.2 deletion syndrome (22q11.2DS) is a multisystem condition associated with an increased risk of early-onset Parkinson's disease (PD).
Methods: We review the clinical, neuroimaging, and neuropathological observations, as well as diagnostic challenges, of PD in 22q11.2DS. We conducted a search of PubMed up until June 1, 2018 and personal files to identify relevant publications.
Results: 22q11.2DS-associated PD is responsible for approximately 0.5% of early-onset PD. The hallmark motor symptoms and neuropathology of PD, and typical findings of reduced striatal dopamine transporter binding with molecular imaging, are present in 22q11.2DS-associated PD. Mean age at PD onset in 22q11.2DS is relatively young (∼40 years). Patients with 22q11.2DS-associated PD show a good response to levodopa.
Conclusions: Further recognition of 22q11.2DS and study of PD in people with 22q11.2DS could provide insights into the mechanisms that cause PD in the general population. 22q11.2DS may serve as an identifiable PD model to study prodromal PD and disease-modifying treatments.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335527 | PMC |
| http://dx.doi.org/10.1002/mdc3.12687 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study.
Genes (Basel)
December 2022
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Article Synopsis
- * Researchers evaluated AR dimensions in 74 patients, finding that 32.4% exhibited ARD, with a notable correlation between ARD severity and skeletal/connective tissue disorders.
- * The study concluded that isolated ARD is prevalent in this population, and regular cardiac monitoring is essential for improving long-term health outcomes, despite unclear risk factors and complications.
Case Report: Autoimmune Psychosis in Chromosome 22q11.2 Deletion Syndrome.
Front Immunol
December 2021
Neuroimmunology and Neuroinflammation Group, Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain.
Chromosome 22q11.2 deletion syndrome (22q11DS) is characterized by congenital cardiac abnormalities, hypoplastic thymus, palatal abnormalities, and hypocalcemia, although other clinical features are frequent such as autoimmune and psychiatric disorders. One-third of the patients have psychotic disorders, frequently followed by developmental regression and long-term cognitive disturbances.
View Article and Find Full Text PDFCase Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome.
Front Neurol
June 2021
Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea.
Article Synopsis
- The 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder linked to various health issues, including heart defects, developmental delays, and hearing impairments due to ear malformations.
- A case study describes a 38-year-old male with 22q11.2DS who experienced fluctuating hearing loss and vertigo similar to Ménière's disease over a decade.
- Medical tests revealed issues like abnormal ear structures and endolymphatic hydrops, suggesting that problems with fluid flow in the ear can lead to acute vertigo and hearing loss in individuals with 22q11.2DS.
The paper presents a clinical case of congenital cleft palate as a manifestation of 22q11.2 deletion syndrome accompanied by other systemic disorders having direct impact on functional indicators and perioperative period during cleft surgery. Specific for 22q11.
View Article and Find Full Text PDFComparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome.
J Intellect Disabil Res
December 2017
The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Background: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!