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Table 1 Demographic data and tissue availability by study groups

From: Circadian sleep/wake-associated cells show dipeptide repeat protein aggregates in C9orf72-related ALS and FTLD cases

 Male: femaleaMean age in years (SD)bNeuro-pathological diagnosisNumber of cases availableMutations
Pineal glandHypo-thalamuscSCN-related neuronsSONPVN
C9orf72 cases6:156.7 (4.8)ALS44333C9orf72
FTLD-TDP22222C9orf72
ALS-FTLD01111C9orf72
Total67666/
nonC9orf72 cases13:862.1 (11.2)ALS91126710 no mutation, 1 TARDBP
FTLD-TDP792675 no mutation, 1 TUBA4A, 1 GRN, 1 VCP, 1 TBK1
ALS-FTLD11111No mutation
Total172151315/
Healthy control cases2:163.0 (2.7)Healthy control33000No mutation
Total33000/
  1. a The sex did not significantly differ between the groups as analyzed by Fisher’s exact test (C9orf72 vs. nonC9orf72 cases, p = 0.37; C9orf72 vs. healthy control cases, p > 0.99; nonC9orf72 vs. healthy control cases, p > 0.99)
  2. b The age did not significantly differ between the three groups as tested by one-way ANOVA (p = 0.43)
  3. c This column represents the number of cases with hypothalamus sections available that were screened for the presence of SCN-related neurons, SON and PVN
  4. VIP-ir neurons indicates vasoactive intestinal peptide-immunoreactive neurons; SON, supraoptic nucleus; PVN, paraventricular nucleus; SD, standard deviation