TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease

Neurology

Volumn 79, Issue 7, 2012, Pages 717-718

  Rutherford, Nicola J ^a   Carrasquillo, Minerva M ^a   Li, Ma ^a   Bisceglio, Gina ^a   Menke, Joshua ^a   Josephs, Keith A ^b   Parisi, Joseph E ^b   Petersen, Ronald C ^b   Graff Radford, Neill R ^a   Younkin, Steven G ^a   Dickson, Dennis W ^a   Rademakers, Rosa ^a  

^a MAYO CLINIC   (United States)

^b Mayo Clinic   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E;

AGED; ALZHEIMER DISEASE; BRAIN REGION; CARBOXY TERMINAL SEQUENCE; COHORT ANALYSIS; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HIPPOCAMPUS; HOMOZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; MAJOR CLINICAL STUDY; MALE; NOTE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SUBICULUM; TEMPORAL LOBE;

EID: 84866102266     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318264e3ac     Document Type: Article

References (7)

1. Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130 -133
2. Amador-Ortiz C, Lin WL, Ahmed Z, et al. TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol 2007;61:435- 445
3. Rademakers R, Eriksen JL, Baker M, et al. Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet 2008;17:3631-3642
4. Van Deerlin VM, Sleiman PM, Martinez-Lage M, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010;42:234 -239
5. Finch N, Carrasquillo MM, Baker M, et al. TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology 2011;76: 467- 474
6. Zhang YJ, Xu YF, Cook C, et al. Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity. Proc Natl Acad Sci USA 2009;106:7607-7612
7. Zhang YJ, Xu YF, Dickey CA, et al. Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. J Neurosci 2007;27:10530 -10534.