A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor.
We investigated a large family with levodopa-responsive, Lewy body parkinsonism in which the disease segregates as an apparent autosomal dominant trait. After performing a genome screen, we identified a chromosome 4p haplotype that segregates with the disease. However, this haplotype also occurs in individuals in the pedigree who do not have clinical Lewy body parkinsonism but rather suffer from postural tremor, consistent with essential tremor. These data demonstrate a new locus for Lewy body parkinsonism and suggest that in some circumstances postural tremor can be an alternative phenotype of the samepathogenic mutation as Lewy body parkinsonism.
Farrer
M
M
Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA, Mayo Clinic Scottsdale, 13400 East Shea Boulevard, Scottsdale, AZ 85259, USA.
Gwinn-Hardy
K
K
Muenter
M
M
DeVrieze
F W
FW
Crook
R
R
Perez-Tur
J
J
Lincoln
S
S
Maraganore
D
D
Adler
C
C
Newman
S
S
MacElwee
K
K
McCarthy
P
P
Miller
C
C
Waters
C
C
Hardy
J
J
D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006239:Haplotypes; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008126:Lod Score; D008297:Male; D010300:Parkinson Disease / Q000188:drug therapy / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011187:Posture; D014202:Tremor / Q000235:genetics*
D007980:Levodopa