We continue to investigate families without known mutations including rare families with parkinsonism, dystonia and ataxia, by genome wide SNP mapping and most recently by exome sequencing. In the last year we have identified and published mutations that cause Brown Vialetto van Laere (BVVL) syndrome and expanded this work to find an additional cause of an atypical form of BVVL (in preparation). In addition we have identified a novel genetic lesion that causes a rare form of spinocerebellar ataxia (nominated as SCA32) and rapid identification of a known SCA mutation causing SCA14. We have in addition, identified the cause of recessive forms of ataxia in 8 in bred families, and this work has revealed 2 novel genetic loci and mutations for this disease (in preparation). Our current efforts have also lead to the identification of significant phenotypic heterogeneity associated with known disease causing mutations;identifying, for example, NOTCH3 mutations as a cause of Alzheimer's disease. In Parkinson's disease our efforts have focussed on exome sequencing across families with an apparent recessive form of disease;this analysis is currently ongoing.
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