Lessons for Parkinson Disease From the Parkin Genotype

Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations

“…Single-strand conformation polymorphism (SSCP) analysis of the 12 exons was followed by nucleotide sequencing whenever an SSCP band shift was observed. To detect alterations in gene dosage (deletions and duplications), a quantitative RTPCR assay was performed [10].…”

“…In early reports, it was observed that patients with PARK2 mutations showed some autonomic symptoms resembling those observed in PD [8,9]. However, recent studies have shown that cardiovascular dysautonomia is not associated with the PARK2 phenotype [10,11]. In addition, a number of case reports in PARK2-positive PD patients have noted normal 123I-MIBG scans [12,13,8] and preserved TH-immunoreactive fibers in the epicardium [12].…”