22q11.2 Deletion Syndrome–Associated Parkinson's Disease

Abstract

Background22q11.2 deletion syndrome (22q11.2DS) is a multisystem condition associated with an increased risk of early‐onset Parkinson's disease (PD).MethodsWe 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.Results22q11.2DS‐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.ConclusionsFurther 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.

Nosology and Phenomenology of Psychosis in Movement Disorders

“…Psychotic symptoms sometimes improved with clozapine, quetiapine, and valproic acid . Special attention should be paid to the risk of clozapine‐associated seizures …”

“…This multisystem condition is associated with an increased risk of early-onset PD. 38 The prevalence of psychosis in this condition ranged between 10% and 30% and developed usually during childhood or early adulthood. [39][40][41] Psychotic symptoms included auditory and visual hallucinations, as well as paranoid delusions.…”

The Role of Alpha-Synuclein And Other Parkinson’s Genes in Neurodevelopmental and Neurodegenerative Disorders

“…While PARK2 is a bona fide PD gene, deletions of chromosome 22q11.2 (22q11.2DS, OMIM # 188400) have only recently been implicated in PD [97,98]. The 22q11.2 deletion is considered to be one of the most common deletion syndromes (~1:1,000-3,000 births) and was first described in 1968 [99,100].…”

Movement Disorders in Adults with 22q11 Deletion Syndrome

“…I read with great interest the recent review article by Boot et al on Parkinson's disease in 22q11 deletion syndrome . There is evidence to suggest an increased risk of Parkinson's disease among people with 22q11 deletion syndrome.…”

“…Dear Sir, I read with great interest the recent review article by Boot et al on Parkinson's disease in 22q11 deletion syndrome. 1 There is evidence to suggest an increased risk of Parkinson's disease among people with 22q11 deletion syndrome. In our study of 50 adults with 22q11 deletion syndrome, we identified an increased prevalence of potential clinical markers of prodromal neurodegeneration (e.g., hyposmia).…”