Ala97Ser transthyretin amyloidosis-associated polyneuropathy, clinical and neurophysiological profiles in a Thai cohort

Table 2 Neurophysiological profiles of symptomatic ATTRA97S-PN at the first and the last evaluations

Family / Patient	Study	NIS	SNCS		MNCS			CTS	QST			CASS	Follow-up Time (years)
Family / Patient	Study	NIS	L ulnar SNAP amplitude (µV)	L sural SNAP amplitude (µV)	L ulnar CMAP amplitude (mV)	L fibular CMAP amplitude (mV)	L tibial CMAP amplitude (mV)	CTS	VDT LUL/LLL	CDT LUL/LLL	HPS LUL/LLL	CASS	Follow-up Time (years)
*Patients with sensory and autonomic polyneuropathy at presentation*.
A3^a	1st	18	20.9^a	11	10^a	3.2	14.3	Severe, R	+^a/+	+^a/+	+^a/+	5	4
A3^a	Last	20	22^a	10	10.3^a	3.4	10.6	Severe, R	+^a/+	+^a/+	+^a/ +	5	4
A4	1st	10	20	11	8.3	3.2	15.7	Mod, B	-/ -	-/+	+/+	3	4
A4	Last	12	22	9.1	10.2	4.2	16.5	Mod, B	-/ -	-/+	+/+	3	4
A5	1st	10	27	9.1	10.8	6	12.7	A	-/+	-/-	+/+	4	3
A5	Last	10	30	10.7	10.9	6.2	10.7	A	-/+	-/-	+/+	3	3
B2	1st	12	16.8	11.3	10.4	3.3	11.1	A	+/++	-/+	NA	3	3
B2	Last	12	12.7	11.3	10.5	3.9	8.1	A	+/++	-/+	NA	4	3
*Patients with sensory, motor and autonomic polyneuropathy at presentation.*
A1	1st	84	NR	NR	2.3	NR	0.8	Severe, B	++/++	++/++	NA	NA	6 (death)
A1	Last	145	NR	NR	NR	NR	NR	U	NA	NA	NA	NA	6 (death)
A2	1st	30	12.6	4.5	8.2	1.4	3.9	Severe, B	++/++	-/+	-/+	5	4
A2	Last	60	4.7	NR	5	0.5	1.3	Severe, B	++/++	+/++	+/++	7	4
B1	1st	92	NR	NR	1.5	NR	NR	Severe, B	++/++	++/++	++/++	NA	3 (death)
B1	Last	152	NR	NR	NR	NR	NR	U	++/++	++/++	++/++	NA	3 (death)
C1	1st	72	8	NR	3.8	NR	4.2	Severe, B	++/++	++/++	+/++	9	5
C1	Last	109	4.4	NR	2.5	NR	2.4	Severe, B	++/++	++/++	++/++	NA	5
D1	1st	44	4.4	4	6.5	1.9	6	Severe, R Mod, L	++/++	++/++	++/++	6	5
D1	Last	66	NR	NR	6	1.2	3.5	Severe, R Mod, L	++/++	++/++	NA	7	5

NIS neuropathy impairment score, SNCS sensory nerve conduction study, MNCS motor nerve conduction study, L left, SNAP sensory nerve action potential, µv microvolts, CMAP compound muscle action potential, mV millivolts, CTS carpal tunnel syndrome, QST quantitative sensory test, VDT vibratory detection threshold, CDT cold detection threshold, HPS heat pain sensation, LUL left upper limb, LLL left lower limb, CASS composite autonomic severity score, R right, Mod moderate, B bilateral, A absent, NR no response, U undetermined, +: >95th to 99th percentile, ++: >99th percentile, -: >5th to < 95th percentile, NA non applicable,
^a patient A3 had congenital transverse deficiency of the left hand. (Studies were done on the right side.),
Reference values: SNCS: ulnar ≥ 10µV, sural ≥ 6µV, MNCS: ulnar ≥ 6mV, fibular ≥ 2mV, tibial ≥ 5mV

ISSN: 1471-2377