APPENDIX E-5: Inventory of Non-Ataxia Symptoms (INAS)

NEUROLOGY/2012/446104 1

APPENDIX e-1: Inventory of Non-Ataxia Symptoms (INAS)

Table 1 Detailed listing of non-ataxia symptoms (1) patients CP CP CP CP CP CP2 CP4 CP6 CP8 CP10 # INAS Symptoms 1 3 5 7 9 Areflexia 0 0 1 1 1 1 1 1 0 0 6 Hyperreflexia 0 0 0 0 0 0 0 0 0 0 0 Extensor plantar 1 0 1 0 0 1 0 0 0 0 3 Spasticity 1 0 1 0 1 0 1 0 0 0 4 Paresis 0 0 0 0 0 0 0 0 0 0 0 Muscle atrophy 0 0 0 0 0 0 0 0 0 0 0 Fasciculations 0 0 0 0 0 0 0 0 0 0 0 Myoclonus 1 0 0 0 0 0 1 0 0 0 2 Rigidity 0 0 0 0 0 0 0 0 0 0 0 Chorea/dyskinesia 0 0 0 0 0 0 0 0 0 1 1 Dystonia 0 0 0 0 0 0 0 0 0 0 0 Resting tremor 0 0 0 0 0 0 0 0 0 0 0 Sensory Systems 0 0 1 1 1 1 1 1 0 0 6 Urinary dysfunction 0 0 0 0 0 0 1 0 0 0 1 Cognitive dysfunction 1 1 0 0 1 1 1 0 0 1 6 Brainstem oculomotor signs 1 0 0 0 0 0 1 0 0 0 2 Total INAS score 5 1 4 2 5 4 7 2 0 2

A systematic and comprehensive clinical characterization of non-ataxia symptoms was performed by means of the Inventory of Non-Ataxia Symptoms (INAS) (Schmitz-Hubsch et al., 2008). The INAS has 30 items comprising of 29 items related to 16 symptoms and one open question (item # 30 “other abnormal clinical findings or reported abnormalities”). In line with previous studies applying the INAS (Schmitz-Hubsch et al., 2008; Jacobi et al., 2011), only the presence or absence (but not the degree) of the respective INAS symptom was noted in this study. The number of INAS symptoms was counted in each patient, yielding the semi- quantitative INAS count, a dimensionless value with a range from 0 (absence of non-ataxia symptoms) to 16 (most severe extra-cerebellar involvement).

The 16 variables are grouped from the INAS form as follows: variable # symptom item of the INAS inventory INAS count 1 Areflexia 1,2,3 2 Hyperreflexia 1,2,3 3 Extensor plantar 4 4 Spasticity 5 5 Paresis 6 6 Muscle atrophy 7 7 Fasciculations 8 8 Myoclonus 9 9 Rigidity 10 10 Chorea/dyskinesia 11 11 Dystonia 12 NEUROLOGY/2012/446104 2

12 Resting tremor 13 13 Sensory symptoms 14 14 Urinary dysfunction 28 15 Cognitive dysfunction 29 16 Brainstem oculomotor signs 20, 21, 22

References: (1) Schmitz-Hübsch T, Coudert M, Bauer P, et al. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology 2008;71:982-989. (2) Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, Durr A, Marelli C, Globas C, Linnemann C, Schols L, Rakowicz M, Rola R, Zdzienicka E, Schmitz- Hubsch T, Fancellu R, Mariotti C, Tomasello C, Baliko L, Melegh B, Filla A, Rinaldi C, van de Warrenburg BP, Verstappen CC, Szymanski S, Berciano J, Infante J, Timmann D, Boesch S, Hering S, Depondt C, Pandolfo M, Kang JS, Ratzka S, Schulz J, Tezenas du Montcel S, Klockgether T (2011) The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study. Neurology 77:1035-1041.