Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit

Table 1 Description of clinical variables in a group of SCA3 patients

Patient	Age (years)	Sex (M/F)	Age at onset (years)	Evolution (years)	Repeats	Family with several patients in the study	Total SARA	Sensibility disturbance at clinical examination	Patellar arreflexia or hyporreflexia	Distal axonal polyneuropathy defined by electrophysiological studies	Pyramidal signs	Clinical extrapyramidal affection	Presynaptic abnormalities at DAT-SCAN
P1	18	M	12	6	NA	No	4	Distal hypopalesthesia	No	No	Yes	No	No
P2	71	F	61	10	65	A	16	Distal hypopalesthesia	Yes	Severe	Yes	No	Yes
P3	60	F	31	29	70	B	27.5	Tactile and thermoalgesic distal hypoesthesia	Yes	Moderate	Yes	Yes	Yes
P4	45	M	37	8	68	No	15.5	None	No	Mild	Yes	No	Yes
P5	73	M	45	28	66	No	13.5	Distal hypopalesthesia	Yes	Moderate	No	No	Yes
P6	60	M	60	0	65	A	8.5	Distal hypopalesthesia	Yes	Moderate	No	No	Yes
P7	34	F	25	9	NA	C	27	Distal hypopalesthesia	Doubtful	Moderate	Yes	No	Yes
P8	35	M	27	8	NA	B	7	None	No	No	Yes	No	Yes
P9	45	M	43	2	68	C	9	Global distal hypoesthesia	Yes	Severe	Yes	Yes	Yes
P10	68	F	56	12	66	No	14	Distal hypopalesthesia	Yes	No	No	No	Yes
P11	40	M	38	2	70	B	4	Distal hypopalesthesia	No	No	Yes	No	Doubtful
P12	28	F	23	5	75	No	11	Global distal hypoesthesia	No	No	Yes	No	Yes
P13	50	M	49	1	65	D	7	Global distal hypoesthesia	Yes	Moderate	Yes	Yes	NA
P14	48	M	40	8	69	D	13	None	Yes	Severe	Yes	No	Yes
P15	55	M	49	6	50	No	8.5	None	No	No	Yes	No	No
P16	40	M	30	10	73	No	11.5	None	No	No	Yes	No	Yes
P17	46	M	36	10	72	C	8.5	Global distal hypoesthesia	No	Severe	Yes	No	Yes

Polyneuropathy was assessed by clinical sensitivity examination, decreased patellar reflex and electrophysiological studies. Pyramidal signs were assessed by presence of plantar cutaneous reflex, Hoffman’s sign or clonus at triceps surae muscle. Extrapyramidal affection was defined either clinically (bradykinesia, rigidity, rest tremor or hypomimia) or by pre-synaptic abnormality in 123I-DaTSCAN SPECT imaging. “NA”: not acquired (in the case of number of repeats, the technique that was applied could be used for diagnosis but was not reliable to quantify the number of CAG repeats). An intermediate value was given to the doubtful interpretation in the DaTSCAN SPECT imaging. Patients from different families were included. If a subject is member of family with other subjects in this study, the membership is indicated by a code (family A, family B, family C and family D)

ISSN: 2053-8871