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

Table 1 Clinical profiles of 9 symptomatic ATTRA97S-PN

Family/ Patient	Sex	Age of onset (year)	Age at diagnosis (year)	Neuropathy at presentation	Neuropathic pain	Fiber type dysfunction of sensory nerve	Motor	Autonomic symptoms	COMPASS-31	Cardiopathy	Systemic
A1	M	52	60	S, M, A, CTS	-	Large, Small	U,L	GI, GU, OH	NA	P^a (CD, NYHA-III)	WR, dysphagia
A2	F	60	66	S, M, A, CTS	-	Large, Small	L	GI, GU, OH, SU	27.43	P^b (NYHA-I)	WR
A3	F	56	59	S, A, CTS	-	Large, Small	-	GI, OH	36.42	P^b (NYHA-I)	-
A4	F	52	55	S, A, CTS	P	Small	-	GI, SU	18.94	Ab^a	-
A5	M	32	33	S, A	-	Large, Small	-	OH	20.46	Ab^b	-
B1	M	58	66	S, M, A, CTS	P	Large, Small	U, L	GI, OH	NA	P^a (CD, NYHA-III)	WR
B2	M	32	36	S, A	-	Large, Small	-	GI	23.36	Ab^b	-
C1	F	58	66	S, M, A, CTS	-	Large, Small	U, L	GI, GU, OH, SU	42.56	P^b(AF, NYHA-II)	WR, MGUS
D1	M	35	52	S, M, A, CTS	-	Large, Small	U, L	GI, GU, OH, SU	33.68	P^c (CD, NYHA-II)	WR

Bold: initial symptoms, M male, F female, S sensory, M motor, A autonomic, CTS carpal tunnel syndrome, U upper limbs (excluding carpal tunnel syndrome), L lower limbs, GI gastrointestinal, GU genitourinary, OH orthostatic intolerance/hypotension, SU sudomotor, COMPASS-31 The composite autonomic symptom score-31 questionnaire, NA non applicable, P present, Ab absent, CD conduction defects, AF atrial fibrillation, NYHA New York Heart Association functional classification (at the last follow-up), WR weight reduction, MGUS monoclonal gammopathy with undetermined significance,
^a Evident by EKG/Holter monitoring and echocardiogram, ^b Evident by electrocardiogram/Holter monitoring, echocardiogram and cardiac magnetic resonance imaging, ^c Evident by electrocardiogram/Holter monitoring, cardiac magnetic resonance imaging and myocardial scintigraphy with bone avid tracer ^99mtechnetium pyrophosphate
A5 is the son of A1. B2 is the son of B1

ISSN: 1471-2377