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

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

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
  1. 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)