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

• Published in: Parkinsonism & related disorders Vol. 12; no. 5; pp. 309 - 313
• Main Authors: Huang, Yue, Hayes, Michael, Harding, Antony J., Brooks, William S., Fung, Victor S.C., Rowe, Dominic, Joffe, Ron, Crimmins, Denis, Hely, Mariese, Halliday, Glenda M.
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.06.2006
• Subjects: Age of Onset; Aged; alpha-Synuclein - genetics; Anticipation; Autosomal dominant inheritance; Dementia with Lewy bodies; DNA Mutational Analysis; Female; Genetic Testing; Genotype; Humans; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; Lewy Body Disease - genetics; Lewy Body Disease - physiopathology; Male; Middle Aged; Parkinson Disease - genetics; Parkinson Disease - physiopathology; Parkinson's disease; Penetrance; Predictive Value of Tests; Prospective Studies; Protein-Serine-Threonine Kinases - genetics; Spinocerebellar Ataxias - genetics; Spinocerebellar Ataxias - physiopathology; Trinucleotide Repeats - genetics; Anticipation; Autosomal dominant inheritance; Parkinson's disease; Dementia with Lewy bodies
• ISSN: 1353-8020; 1873-5126
• DOI: 10.1016/j.parkreldis.2006.01.002

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 α-synuclein or LRRK2 point mutations.