Table 1 Characteristics of Patient 1 and Patient 2
From: Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
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 |