Abstract:
:Recently it has been reported that a missense G(88)C mutation within exon 3 and a missense G(209)A mutation within exon 4 of the alpha-synuclein gene were linked to familial Parkinson's Disease (PD). We decided to investigate if these and any other mutations in exons 3 and 4 of the alpha-synuclein gene could be detected in sixty two sporadic PD and dementia with Lewy bodies (DLB) patients. Four cases of familial DLB were also studied, two of which were from the same family. Single stranded conformational polymorphism, DNA sequencing analyses and PCR-RFLP of exons 3 and 4 failed to reveal any nucleotide changes. However, three nucleotide differences occurred in the intron 4 sequence compared to the published sequence. This study adds further support to the idea that these particular mutation in the alpha-synuclein gene are a rare case of PD and now, as we have shown here, also of DLB.
journal_name
Neuroreportjournal_title
Neuroreportauthors
El-Agnaf OM,Curran MD,Wallace A,Middleton D,Murgatroyd C,Curtis A,Perry R,Jaros Edoi
10.1097/00001756-199812010-00029subject
Has Abstractpub_date
1998-12-01 00:00:00pages
3925-7issue
17eissn
0959-4965issn
1473-558Xjournal_volume
9pub_type
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