SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.
The authors recently have shown that triplication of the alpha-synuclein gene (SNCA) can cause Parkinson disease (PD) and diffuse Lewy body disease within the same kindred. The authors assessed 101 familial PD probands, 325 sporadic PD cases, 65 patients with dementia with Lewy bodies, and 366 neurologically normal control subjects for SNCA multiplication. The authors did not identify any subjects with multiplication of SNCA and conclude this mutation is a rare cause of disease.
Johnson
J
J
Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.
Hague
S M
SM
Hanson
M
M
Gibson
A
A
Wilson
K E
KE
Evans
E W
EW
Singleton
A A
AA
McInerney-Leo
A
A
Nussbaum
R L
RL
Hernandez
D G
DG
Gallardo
M
M
McKeith
I G
IG
Burn
D J
DJ
Ryu
M
M
Hellstrom
O
O
Ravina
B
B
Eerola
J
J
Perry
R H
RH
Jaros
E
E
Tienari
P
P
Weiser
R
R
Gwinn-Hardy
K
K
Morris
C M
CM
Hardy
J
J
Singleton
A B
AB
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004739:England / Q000453:epidemiology; D005192:Family Health; D005260:Female; D005387:Finland / Q000453:epidemiology; D018628:Gene Dosage; D020440:Gene Duplication; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D020961:Lewy Body Disease / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000502:physiology; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D051843:Synucleins; D014481:United States / Q000453:epidemiology; D044465:White People / Q000235:genetics; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein