Anticipation of onset age in familial Parkinson's disease without SCA gene mutations.
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.
Huang
Yue
Y
Prince of Wales Medical Research Institute, University of New South Wales, Barker Street, Randwick, NSW 2031, Australia.
Hayes
Michael
M
Harding
Antony J
AJ
Brooks
William S
WS
Fung
Victor S C
VS
Rowe
Dominic
D
Joffe
Ron
R
Crimmins
Denis
D
Hely
Mariese
M
Halliday
Glenda M
GM
D017668:Age of Onset; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D020961:Lewy Body Disease / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology*; D019683:Penetrance; D011237:Predictive Value of Tests; D011446:Prospective Studies; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000503:physiopathology*; D018911:Trinucleotide Repeats / Q000235:genetics; D051844:alpha-Synuclein / Q000235:genetics
D051844:alpha-Synuclein; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases