Parkinson’s disease may be caused by a single pathogenic variant (monogenic) in 5–10% of cases, but investigation of these disorders provides valuable pathophysiological insights. In this review, we discuss each genetic form with a focus on genotype, phenotype, pathophysiology, and the geographic and ethnic distribution. Well-established Parkinson’s disease genes include autosomal dominant forms (
SNCA,
LRRK2, and
VPS35) and autosomal recessive forms (
PRKN,
PINK1 and
DJ1). Furthermore, mutations in the
GBA gene are a key risk factor for Parkinson’s disease, and there have been major developments for X-linked dystonia parkinsonism. Moreover, atypical or complex parkinsonism may be due to mutations in genes such as
ATP13A2,
DCTN1,
DNAJC6,
FBXO7,
PLA2G6, and
SYNJ1. Furthermore, numerous genes have recently been implicated in Parkinson’s disease, such as
CHCHD2,
LRP10,
TMEM230,
UQCRC1, and
VPS13C. Additionally, we discuss the role of heterozygous mutations in autosomal recessive genes, the effect of having mutations in two Parkinson’s disease genes, the outcome of deep brain stimulation, and the role of genetic testing. We highlight that monogenic Parkinson’s disease is influenced by ethnicity and geographical differences, reinforcing the need for global efforts to pool large numbers of patients and identify novel candidate genes.
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