Mutations in DJ-1 are rare in familial Parkinson disease.
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ABSTRACT:
SUBMITTER: Pankratz N
PROVIDER: S-EPMC1706076 | biostudies-literature | 2006 Nov
REPOSITORIES: biostudies-literature
Publications
Mutations in DJ-1 are rare in familial Parkinson disease.
Pankratz Nathan N Pauciulo Michael W MW Elsaesser Veronika E VE Marek Diane K DK Halter Cheryl A CA Wojcieszek Joanne J Rudolph Alice A Shults Clifford W CW Foroud Tatiana T Nichols William C WC
Neuroscience letters 20060925 3
Mutations in DJ-1 (PARK7) are one cause of early-onset autosomal-recessive parkinsonism. We screened for DJ-1 mutations in 93 affected individuals from the 64 multiplex Parkinson disease (PD) families in our sample that had the highest family-specific multipoint LOD scores at the DJ-1 locus. In addition to sequencing all coding exons for alterations, we used multiplex ligation-dependent probe amplification (MLPA) to examine the genomic copy number of DJ-1 exons. A known polymorphism (R98Q) was f ...[more]
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