PMID- 16962786
OWN - NLM
STAT- MEDLINE
DCOM- 20070123
LR  - 20131121
IS  - 0969-9961 (Print)
IS  - 0969-9961 (Linking)
VI  - 24
IP  - 2
DP  - 2006 Nov
TI  - Brain-derived neurotrophic factor does not influence age at neurologic onset of 
      Huntington's disease.
PG  - 280-5
AB  - In Huntington's disease (HD), genetic factors in addition to the HD CAG repeat 
      mutation play a significant role in determining age at neurologic onset. 
      Brain-derived neurotrophic factor (BDNF), a survival factor for striatal neurons, 
      has been implicated as a target of regulation by huntingtin and is an attractive 
      candidate as a genetic modifier. We tested this hypothesis by genotyping a SNP 
      known to alter BDNF function (rs6265, also termed Val66Met) and a SNP associated 
      with Alzheimer disease (BDNF C270T), along with two BDNF intronic SNPs 
      (rs7103411, rs11030104), in 228 cases with extreme young onset and 329 cases with 
      extreme old onset of HD. No differences were seen between groups for allele 
      frequencies or genotype frequencies for any SNP. Furthermore, no association to 
      onset age was seen in GEE models controlling for HD repeat size or in haplotype 
      analyses of these SNPs. These results indicate that BDNF does not influence 
      significantly the mechanisms in HD pathogenesis that lead to neurologic onset.
FAU - Kishikawa, Shotaro
AU  - Kishikawa S
AD  - Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts 
      General Hospital, and Department of Neurology, Boston University School of 
      Medicine, MA 02114, USA.
FAU - Li, Jian-Liang
AU  - Li JL
FAU - Gillis, Tammy
AU  - Gillis T
FAU - Hakky, Michael M
AU  - Hakky MM
FAU - Warby, Simon
AU  - Warby S
FAU - Hayden, Michael
AU  - Hayden M
FAU - MacDonald, Marcy E
AU  - MacDonald ME
FAU - Myers, Richard H
AU  - Myers RH
FAU - Gusella, James F
AU  - Gusella JF
LA  - eng
GR  - NS16375/NS/NINDS NIH HHS/United States
GR  - NS32765/NS/NINDS NIH HHS/United States
GR  - P50NS016367/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20060907
PL  - United States
TA  - Neurobiol Dis
JT  - Neurobiology of disease
JID - 9500169
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - AE28F7PNPL (Methionine)
RN  - HG18B9YRS7 (Valine)
SB  - IM
MH  - Age of Onset
MH  - Alzheimer Disease/genetics
MH  - Amino Acid Substitution/genetics
MH  - Brain-Derived Neurotrophic Factor/chemistry/*genetics/metabolism
MH  - DNA Mutational Analysis
MH  - Gene Frequency/genetics
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genetic Testing
MH  - Genotype
MH  - Haplotypes/genetics
MH  - Huntington Disease/*epidemiology/*genetics/physiopathology
MH  - Introns/genetics
MH  - Methionine/genetics
MH  - Polymorphism, Single Nucleotide/*genetics
MH  - Trinucleotide Repeat Expansion/genetics
MH  - Valine/genetics
EDAT- 2006/09/12 09:00
MHDA- 2007/01/24 09:00
CRDT- 2006/09/12 09:00
PHST- 2006/05/27 00:00 [received]
PHST- 2006/07/13 00:00 [revised]
PHST- 2006/07/17 00:00 [accepted]
PHST- 2006/09/12 09:00 [pubmed]
PHST- 2007/01/24 09:00 [medline]
PHST- 2006/09/12 09:00 [entrez]
AID - S0969-9961(06)00173-2 [pii]
AID - 10.1016/j.nbd.2006.07.008 [doi]
PST - ppublish
SO  - Neurobiol Dis. 2006 Nov;24(2):280-5. doi: 10.1016/j.nbd.2006.07.008. Epub 2006 
      Sep 7.