Alice M. Lazzarini

TL;DR: In this article, genetic markers on chromosome 4q21-q23 were found to be linked to the PD phenotype in a large kindred with autosomal dominant PD, with a Zmax = 6.00 for marker D4S2380.

TL;DR: The findings show that a presumably single mutation can prodcue a heterogeneous PD phenotype, even among siblings, consistent with the hypothesis that PD in the community may in fact be caused by a mutation, but one producing a lower penetrance and older age at onset than those in this kindred.

TL;DR: A genomewide linkage analysis using variance-component methodology to identify genes influencing age at onset of PD in a population of affected relatives (mainly affected sibling pairs) participating in the GenePD study showed suggestive evidence of linkage.

TL;DR: A single point mutation at residue 295 of the CLN3 protien in protracted JNCL may underlie the phenotype in this form of juvenile neuronal ceroid lipofuscinosis, which differs from that in classic JnCL.

TL;DR: The age-of-onset model provides evidence for a gene that influences age-dependent penetrance of PD, influencing age of onset rather than susceptibility, and a Mendelian gene influencing susceptibility to the disease is found.