Table 1.
Characteristics of LRRK2 substitutions associated with parkinsonism
Amino-acid variation | Position | Protein domain | Main phenotype | Risk ethnicty | Neuropathology | Ref |
---|---|---|---|---|---|---|
R1441C | Exon31 | ROCc | PD | Middle European | Lewy bodies | [22] |
SN neuronal loss | ||||||
Neurofibrillary tangles | ||||||
Ubiquitin staining | ||||||
R1441G | Exon31 | ROCc | PD | Caucasian (Basque Country) Italy | SN neuronal loss | [28] |
Ubiquitin staining | ||||||
R1441H | Exon31 | ROCc | PD | NAb | Unknown | [23] |
R1628P | Exon 34 | CORc | PD | Chinese | Unknown | [24] |
Y1699C | Exon 35 | CORc | PD | NAb | Lewy bodies | [25] |
SN neuronal loss | ||||||
Neurofibrillary tangles(Stage IIa) | ||||||
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 Va) | ||||||
Ubiquitin staining | ||||||
I2020T | Exon 41 | Kinase | PD | NAb | Lewy bodies | [29] |
SN neuronal loss | ||||||
R2385R | Exon 48 | WD40 | PD | East Asian | Unknown | [13] |
aStage refers to the highest reported Braak stage.
b NA, Not applicable.
c Roc: Ras of complex (GTPase). COR: C-terminal of Ras.