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Elsevier, Parkinsonism & Related Disorders, 5(12), p. 309-313, 2006

DOI: 10.1016/j.parkreldis.2006.01.002

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Anticipation of onset age in familial Parkinson's disease without SCA gene mutations

Journal article published in 2006 by Yue Huang ORCID, Michael Hayes, Antony J. Harding, Victor S. C. Fung, William Seymour Brooks ORCID, Dominic Rowe, Ron Joffe, Denis Crimmins, Mariese Hely, Glenda M. Halliday ORCID
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This paper is available in a repository.

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Abstract

Assessment of a series of 279 cases with Lewy body disease revealed 14 families having a family history consistent with autosomal dominant inheritance, eight of these with dominant Parkinsonism and six with dominant dementia. Analysis of the age at onset and genetic features in these families revealed significant anticipation only in a subset of parkinsonian families, with no pathological alleles for spinocerebellar ataxias or the common alpha-synuclein or LRRK2 point mutations.