TABLE 2.

List of monogenic PD and parkinsonism (adapted from ref. ²¹⁰)

Designation and reference	GeneReviews and OMIM Reference	Clinical clues	Inheritance	Previous locus symbol
1. Classical PD
PARK-SNCA	GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1223/ OMIM 168601	Missense mutations cause classical parkinsonism. Duplication or triplication mutations in this gene cause early onset parkinsonism with prominent dementia.	AD	PARK1
PARK-LRRK2	GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1208/ OMIM 607060	Clinically typical PD	AD	PARK8
PARK-VPS35	GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1223/ OMIM 614203	Clinically typical PD	AD	PARK17
2. Early-onset PD
PARK-Parkin	GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1155/ OMIM 600116	Often presents with dystonia, typically in a leg	AR	PARK2
PARK-PINK1	GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1223/ OMIM 605909	Often presents with psychiatric features	AR	PARK6
PARK-DJ1	GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1223/ OMIM 606324		AR	PARK7
3. Parkinsonism
PARK-ATP13A2	GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1223/ OMIM 606693	Kufor-Rakeb syndrome with parkinsonism and dystonia; Additional features: Supranuclear gaze palsy, spasticity/pyramidal signs, dementia, facial-faucial-finger mini-myoclonus, dysphagia, dysarthria, olfactory dysfunction	AR	PARK9
PARK-FBXO7	GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1223/ OMIM: 260300	Early onset parkinsonism with pyramidal signs	AR	PARK15
PARK-DNAJC6	GeneReviews: n/a OMIM 615528	May present with mental retardation and seizures	AR	PARK19
PARK-SYNJ1	GeneReviews: n/a OMIM 615530	May have seizures, cognitive decline, abnormal eye movements, and dystonia	AR	PARK20

AD, autosomal dominant; AR, autosomal recessive; n/a, not available.