Does 22q11.2 deletion syndrome contribute to the genetic aetiology of Parkinson’s disease?

Excerpt

Parkinson’s disease (PD) is the most common neurodegenerative movement disorder with several disease-causing genes now identified. More recently an association between early-onset Parkinson’s disease (EOPD) and deletions involving the 22q11.2 chromosomal region (22q11.2 deletion syndrome, 22q11.2DS) has been described. This represents one of the most common interstitial deletion syndromes (1 in 4000 live births), and spans a 1.5–3 Mb region. 22q11.2DS is a heterogenous clinical syndrome involving neurodevelopmental, psychiatric, cardiac, immunological, and endocrinological abnormalities, with an autosomal dominant inheritance pattern, although many reported cases represent de novo mutations. The area of interest contains ~ 52 genes, none of which have been previously linked to PD. The papers discussed below provide evidence of a potential association between 22q11.2DS and EOPD, and further seek to delineate the characteristic clinical features of this group. …