The role of the LRRK2 gene in Parkinsonism

Table 1 Characteristics of LRRK2 substitutions associated with parkinsonism

Amino-acid variation	Position	Protein domain	Main phenotype	Risk ethnicty	Neuropathology	Ref
R1441C	Exon31	ROC^c	PD	Middle European	Lewy bodies	[22]
					SN neuronal loss
					Neurofibrillary tangles
					Ubiquitin staining
R1441G	Exon31	ROC^c	PD	Caucasian (Basque Country) Italy	SN neuronal loss	[28]
R1441G	Exon31	ROC^c	PD	Caucasian (Basque Country) Italy	Ubiquitin staining	[28]
R1441H	Exon31	ROC^c	PD	NA^b	Unknown	[23]
R1628P	Exon 34	COR^c	PD	Chinese	Unknown	[24]
Y1699C	Exon 35	COR^c	PD	NA^b	Lewy bodies	[25]
					SN neuronal loss
					Neurofibrillary tangles(Stage II^a)
					Ubiquitin staining
G2019S	Exon 41	Kinase	PD	In virtually all the populations especially North African	Lewy bodies	[30, 32, 43]
					SN neuronal loss
					Neurofibrillary tangles (Stage V^a)
					Ubiquitin staining
I2020T	Exon 41	Kinase	PD	NA^b	Lewy bodies	[29]
I2020T	Exon 41	Kinase	PD	NA^b	SN neuronal loss	[29]
R2385R	Exon 48	WD40	PD	East Asian	Unknown	[13]

ISSN: 1750-1326