Table 1

Characteristics of Patient 1 and Patient 2

Characteristics

Patient 1

Patient 2


Age at Onset

30

33

Onset Mode

Pure PD signs

PD plus cerebellar signs?

Family history for PD features

Mother and grandfather

NP

ATXN3 (CAG)n tract length

Normal Allele

14

29

Expanded Allele

72

72

PARK2 Gene Mutations

NP

NP

LRRK2 Gene Mutations

NP

NP

PINK1 Gene Mutations

NP

NP

DJ-1 Gene

Mutations

NP

NP

Polymorphisms

g.168_185del

Del/Del

Ins/Del

rs7517357

T/T

C/T

rs2641116

G/G

T/G

rs56327722

A/A

G/A

SNCA Gene

REP1

261/261

261/261

MAPT Gene

rs242557

A/G

G/G

Haplotype

H1/H2

H2/H2

APOE Gene

genotype

ε2/ε3

ε2/ε3

mtDNA

T4336C mutation

NP

NP

Haplogroup

H

H


NP - Not present

Bettencourt et al. BMC Neurology 2011 11:131   doi:10.1186/1471-2377-11-131

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