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. Author manuscript; available in PMC: 2021 Aug 18.
Published in final edited form as: Neuron. 2020 Nov 26;109(3):448–460.e4. doi: 10.1016/j.neuron.2020.11.005

Table 1.

Pathogenic HTT repeat expansions within the discovery and replication cohorts

Discovery cohort Replication cohorta
Number carriers/number screened Rate Number carriers/number screened Rate
FTD/ALSb 3/2442 0.1% 5/3674 0.1%
LBD 0/2,599 0 - -
Controls 0/3,158 0 10/31,583 0.03%
a

The replication control-cohort included 210 neurologically-healthy controls, 13,670 population controls from Gardiner et al., 2019 (Gardiner et al., 2019), and 17,703 neurologically-healthy individuals from the UK 100K Genomes Project. The replication case-cohort included 1,236 samples analyzed by repeat-primed PCR for HTT repeats and 2,648 samples analyzed by nextgeneration sequencing. All samples that whole-genome sequencing predicted to possess 40 or more CAG repeats were verified by repeat-primed PCR and by cloning and Sanger sequencing.

b

Within the FTD/ALS discovery cohort, 3/1,377 (0.2%) FTD patients and 0/1,065 ALS patients carried a pathogenic HTT repeat expansion. Within the FTD/ALS replication cohort, 2/1,009 (0.2%) FTD patients and 3/2,665 (0.1%) ALS patients carried a pathogenic HTT repeat expansion.