Biomaterial Database

SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia. 2008

T Schmitz-Hübsch, and P Giunti, and D A Stephenson, and C Globas, and L Baliko, and F Saccà, and C Mariotti, and M Rakowicz, and S Szymanski, and J Infante, and B P C van de Warrenburg, and D Timmann, and R Fancellu, and R Rola, and C Depondt, and L Schöls, and E Zdzienicka, and J-S Kang, and S Döhlinger, and B Kremer, and B Melegh, and A Filla, and T Klockgether

Department of Neurology, University Hospital of Bonn, Sigmund-Freud-Str 25, D-53105 Bonn, Germany. tanja.schmitz-huebsch@ukb.uni-bonn.de

OBJECTIVE To evaluate the usefulness of functional measures in patients with spinocerebellar ataxia (SCA). METHODS We assessed three functional measures-8 m walking time (8MW), 9-hole peg test (9HPT), and PATA repetition rate-in 412 patients with autosomal dominant SCA (genotypes 1, 2, 3, and 6) in a multicenter trial. RESULTS While PATA rate was normally distributed (mean/median 21.7/20.5 per 10 s), the performance times for 8MW (mean/median 10.8/7.5 s) or 9HPT (mean/median 47.2/35.0 s in dominant, 52.2/37.9 s in nondominant hand) were markedly skewed. Possible learning effects were small and likely clinically irrelevant. A composite functional index (SCAFI) was formed after appropriate transformation of subtest results. The Z-scores of each subtest correlated well with the Scale for the Assessment and Rating of Ataxia (SARA), the Unified Huntington's disease Rating Scale functional assessment, and disease duration. Correlations for SCAFI with each of these parameters were stronger (Pearson r = -0.441 to -0.869) than for each subtest alone. Furthermore, SCAFI showed a linear decline over the whole range of disease severity, while 9HPT and 8MW had floor effects with respect to SARA. Analysis of possible confounders showed no effect of genotype or study site and only minor effects of age for 8MW. CONCLUSIONS The proposed functional measures and their composite SCAFI have favorable properties to assess patients with spinocerebellar ataxia.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009048	Motor Skills	Performance of complex motor acts.	Motor Skill,Skill, Motor,Skills, Motor
D004185	Disability Evaluation	Determination of the degree of a physical, mental, or emotional handicap. The diagnosis is applied to legal qualification for benefits and income under disability insurance and to eligibility for Social Security and workmen's compensation benefits.	Disability Evaluations,Evaluation, Disability,Evaluations, Disability
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D020754	Spinocerebellar Ataxias	A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)	Spinocerebellar Ataxia Type 1,Spinocerebellar Ataxia Type 2,Spinocerebellar Ataxia Type 4,Spinocerebellar Ataxia Type 5,Spinocerebellar Ataxia Type 6,Spinocerebellar Ataxia Type 7,Spinocerebellar Atrophies,Autosomal Dominant Cerebellar Ataxia, Type II,Cerebellar Degeneration with Slow Eye Movements,Cerebelloparenchymal Disorder I,Dominantly-Inherited Spinocerebellar Ataxias,Menzel Type OPCA,OPCA with Macular Degeneration and External Ophthalmoplegia,OPCA with Retinal Degeneration,Olivopontocerebellar Atrophy 2,Olivopontocerebellar Atrophy I,Olivopontocerebellar Atrophy II,Olivopontocerebellar Atrophy III,Olivopontocerebellar Atrophy IV,Olivopontocerebellar Atrophy, Holguin Type,SCA1,Schut-Haymaker Type OPCA,Spinocerebellar Ataxia 1,Spinocerebellar Ataxia 2,Spinocerebellar Ataxia 4,Spinocerebellar Ataxia 5,Spinocerebellar Ataxia 6,Spinocerebellar Ataxia 7,Spinocerebellar Ataxia with Slow Eye Movements,Spinocerebellar Ataxia, Autosomal Dominant, with Sensory Axonal Neuropathy,Spinocerebellar Ataxia, Cuban Type,Spinocerebellar Ataxia-1,Spinocerebellar Ataxia-2,Spinocerebellar Ataxia-4,Spinocerebellar Ataxia-5,Spinocerebellar Ataxia-6,Spinocerebellar Ataxia-7,Spinocerebellar Ataxias, Dominantly-Inherited,Spinocerebellar Atrophy 2,Spinocerebellar Atrophy I,Spinocerebellar Atrophy II,Spinocerebellar Degeneration with Slow Eye Movements,Type 1 Spinocerebellar Ataxia,Type 2 Spinocerebellar Ataxia,Type 4 Spinocerebellar Ataxia,Type 5 Spinocerebellar Ataxia,Type 6 Spinocerebellar Ataxia,Type 7 Spinocerebellar Ataxia,Wadia Swami Syndrome,Wadia-Swami Syndrome,Ataxia 1, Spinocerebellar,Ataxia 2, Spinocerebellar,Ataxia 4, Spinocerebellar,Ataxia 5, Spinocerebellar,Ataxia 6, Spinocerebellar,Ataxia 7, Spinocerebellar,Ataxia, Dominantly-Inherited Spinocerebellar,Ataxia, Spinocerebellar,Ataxias, Dominantly-Inherited Spinocerebellar,Ataxias, Spinocerebellar,Atrophies, Spinocerebellar,Atrophy 2, Olivopontocerebellar,Atrophy 2, Spinocerebellar,Atrophy 2s, Olivopontocerebellar,Atrophy 2s, Spinocerebellar,Atrophy I, Olivopontocerebellar,Atrophy I, Spinocerebellar,Atrophy II, Olivopontocerebellar,Atrophy III, Olivopontocerebellar,Atrophy IIs, Spinocerebellar,Atrophy IV, Olivopontocerebellar,Atrophy IVs, Olivopontocerebellar,Atrophy, Spinocerebellar,Cerebelloparenchymal Disorder Is,Dominantly Inherited Spinocerebellar Ataxias,Dominantly-Inherited Spinocerebellar Ataxia,OPCA, Menzel Type,OPCA, Schut-Haymaker Type,Olivopontocerebellar Atrophy 2s,Olivopontocerebellar Atrophy IIIs,Olivopontocerebellar Atrophy IIs,Olivopontocerebellar Atrophy IVs,Olivopontocerebellar Atrophy Is,SCA1s,Schut Haymaker Type OPCA,Spinocerebellar Ataxia,Spinocerebellar Ataxia 1s,Spinocerebellar Ataxia 2s,Spinocerebellar Ataxia 4s,Spinocerebellar Ataxia 5s,Spinocerebellar Ataxia 6s,Spinocerebellar Ataxia 7s,Spinocerebellar Ataxia, Dominantly-Inherited,Spinocerebellar Ataxias, Dominantly Inherited,Spinocerebellar Atrophy,Spinocerebellar Atrophy 2s,Spinocerebellar Atrophy IIs,Spinocerebellar Atrophy Is,Swami Syndrome, Wadia,Syndrome, Wadia Swami,Syndrome, Wadia-Swami