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including PARK6 (1p36–p35), which appears to have a broadly similar phenotype.
This has led to suggestions that PARK6 and PARK7 are allelic, either because of chromosomal rearrangements or because of erroneous linkage mapping.
Two patients reported depression, but none suffered anxiety disorder, which has also been noted in DJ-1.
We also did not find pathogenic DJ-1 mutations in a smaller cohort of four patients in whom, despite extensive genetic analysis, we could only determine a single heterozygous parkin gene mutation.
Finally no DJ-1 mutations were found in three PARK6 linked families.
Bidirectional dideoxy chain terminator sequencing was carried out according to the manufacturers’ instructions (Big Dye, Applied Biosystems, Warrington, UK) and the products were electrophoresed on an ABI 3100 automated DNA sequencer (Applied Biosystems).
Long range PCR for the detection of the exon 1–5 deletion described by Bonifati In a cohort of 39 index Parkinson’s disease patients with probable autosomal recessive inheritance, we did not find any pathogenic mutation in the DJ-1 gene.
We therefore sought to confirm that PARK6 was not caused by DJ-1 mutations.
There has also been considerable recent interest in the increasingly large number of young onset or familial cases of Parkinson’s disease, in whom only one pathogenic parkin mutation has been found despite extensive analysis.Mutations in the DJ-1 gene have recently been shown to cause autosomal recessive Parkinson’s disease.To estimate the prevalence of this mutation, an analysis was undertaken of 39 index cases of Parkinson’s disease in whom a family history suggested autosomal recessive inheritance.We excluded cases known to have even a single parkin gene mutation, though seven of these patients had not had parkin gene analysis.Thirteen patients had the additional clinical finding of focal dystonia, but no patient had blepharospasm, a possible marker for DJ-1.This has led to suggestions that a single mutation in these patients may be sufficient to cause the phenotype, either by haplo-insufficiency or by a dominant negative effect.Tags: Adult Dating, affair dating, sex dating