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. Author manuscript; available in PMC: 2012 Oct 20.
Published in final edited form as: Neuron. 2011 Sep 21;72(2):245–256. doi: 10.1016/j.neuron.2011.09.011

Table 1.

Frequency of chromosome 9p repeat expansion in FTLD and ALS

Cohort N Number of mutation carriers (%)
c9FTD/ALS GRN MAPT SOD1 TARDBP FUS
UBC FTLD-TDP
Familial 26 16 (61.5) 7 (26.9) n/a n/a n/a n/a
MCF FTLD-TDP
Familial 40 9 (22.5) 6 (15.0) n/a n/a n/a n/a
Sporadic a 53 8 (15.1) 8 (15.1) n/a n/a n/a n/a
MC Clinical FTD
Familial 171 20 (11.7) 13 (7.6) 12 (6.3) n/a n/a n/a
Sporadic 203 6 (3.0) 6 (3.0) 3 (1.5) n/a n/a n/a
MCF Clinical ALS
Familial 34 8 (23.5) n/a n/a 4 (11.8) 1 (2.9) 1 (2.9)
Sporadic 195 8 (4.1) n/a n/a 0 (0.0) 2 (1.0) 3 (1.5)
a

Includes 22 individuals for which no information on family history was available.

ALS=Amyotrophic lateral sclerosis; c9FTD/ALS= (GGGGCC)n repeat expansion at chromosome 9p identified in this study; FTD = frontotemporal dementia; FTLD-TDP=Frontotemporal lobar degeneration with TDP-43 pathology; FUS=fused in sarcoma gene; GRN=Progranulin gene; MAPT=Microtubule associated protein tau gene; MC=Mayo Clinic; MCF=Mayo Clinic Florida; n/a = not assessed; SOD1=superoxide dismutase 1 gene; TARDBP=TAR DNA-binding protein 43 gene UBC=University of British Columbia.