Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study.
We present the findings of a study of two large unrelated kindreds with autosomal dominant Parkinson's disease. The affected members were assessed clinically and with [(18)F]6-fluorodopa-PET and were indistinguishable from patients with the sporadic form of Parkinson's disease. In one kindred, an affected member was examined subsequently at autopsy and Lewy bodies were present in a distribution typical of sporadic Parkinson's disease. These kindreds are distinct from other Parkinsonian kindreds with identified genetic loci (PARK1-4) and provide further evidence for genetic heterogeneity in familial Parkinson's disease.
Nicholl
D J
DJ
Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK. d.j.nicholl@bham.ac.uk
Vaughan
J R
JR
Khan
N L
NL
Ho
S L
SL
Aldous
D E W
DE
Lincoln
S
S
Farrer
M
M
Gayton
J D
JD
Davis
M B
MB
Piccini
P
P
Daniel
S E
SE
Lennox
G G
GG
Brooks
D J
DJ
Williams
A C
AC
Wood
N W
NW
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D003627:Data Interpretation, Statistical; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D016631:Lewy Bodies / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D010375:Pedigree; D014055:Tomography, Emission-Computed; D006113:United Kingdom