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Table 1 Characteristics of LRRK2 substitutions associated with parkinsonism

From: The role of the LRRK2 gene in 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]
  1. aStage refers to the highest reported Braak stage.
  2. bNA, Not applicable.
  3. cRoc: Ras of complex (GTPase). COR: C-terminal of Ras.
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Molecular Neurodegeneration

ISSN: 1750-1326

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