Table 1.

Demographic, clinical and laboratorial characteristics of the CSF study patients/samples

	Hereditary ATTRV30M – ‘Tafamidis Group’ (n = 5)	Hereditary ATTRV30M – ‘No Tafamidis Group’ (n=4)	Non-ATTR controls (n=3)
Patient Age (mean ± s.d., max, min)	35.4 ± 4.1 years (max 41.7, min 29.2)	45.2 ± 4.8 years (max 48.8, min 37.0)	28.6 ± 4.1 years (max 34.2, min 24.4)
Gender	Female: n=4, Male: n=1	Female: n=4	Female: n=3
Age of disease onset (mean ± s.d., max, min)	28.0 ± 4.4 years (max 36.3, min 25.1)	32.8 ± 2.0 years (max 35.0, min 30.2)	na
Disease duration (mean ± s.d., max, min)	7.4 ± 2.4 years (max 10.3, min 4.0)	11.2 ± 5.7* years (max 17.6, min 3.7)	na
ATTRV30M Specific Treatment Description	Tafamidis 20mg per day orally	Liver Transplant: n=2 No Treatment: n=2	na
Treatment duration (mean ± s.d., max, min)	5.7 ± 2.4 years (max 9.2, min 2.6)	11.8 ± 1.5# years (max 13.4, min 10.3)	na
CNS manifestations	Migraine/Headache: n=4 Transitory Neurologic Episodes, with confirmed TTR-Amyloid Angiopathy: n=1	Migraine/Headache: n=2 Subjective cognitive complaints: n=1 Subjective worsening of motor deficits associated with subacute myelopathy: n=1	Multiple Sclerosis / CNS inflammatory disease: n=3
CSF Total protein (mean ± s.d., max, min)	0.44 ± 0.17 g/L (max 0.74, min 0.27)	0.48 ± 0.20 g/L (max 0.73, min 0.25)	0.25 ± 0.02 g/L (max 0.23, min 0.28)
CSF erythrocytes	0 cells/μL: n=4, 212 cells/μL: n=1	0–2 cells/μL: n=4,	0–5 cells/μL: n=2, 58 cells/μL: n=1

^*one patient (D006; still considered asymptomatic regarding ATTR Amyloidosis) not included in this average.

^#two patients (D010, D006; untreated) not included in this average.