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EUROSCA

The EUROSCA Natural History Study

Spinocerebellar ataxias (SCAs) are autosomal dominantly inherited progressive ataxia disorders. An epidemiological study performed in the Netherlands found a prevalence of 3.0 : 100,000. The SCAs are genetically and clinically heterogeneous disorders with SCA1, SCA2, SCA3 and SCA6 being the most frequent genotypes worldwide. While SCA1, SCA2 and SCA3 have a complex phenotype, SCA6 patients usually present with pure cerebellar ataxia. Although precise knowledge of the rate of disease progression is a prerequisite for the biometrical design of future therapeutical trials, prospective studies of the natural history of SCAs have not been performed. Similarly, the occurrence and evolution of accompanying non-ataxia symptoms have not been studied prospectively.

The key goal of EUROSCA-NHS is to determine and compare the rate of disease progression in SCA1, SCA2, SCA3 and SCA6. To this end, a newly developed and validated ataxia scale (Scale for the Assessment and Rating of Ataxia, SARA) is used. EUROSCA-NHS has a number of secondary aims including determination of the order and occurrence of non-ataxia symptoms, assessment of health-related quality of life, and identification of predictors of disease progression and survival. Substudies deal with the development of brain atrophy, as assessed by magnetic resonance imaging (MRI), progression of peripheral neuropathy, as assessed by nerve conduction studies, and specific clinical aspects of SCA.
EUROSCA-NHS was funded by the EU (6th Framework Program)

Principal investigator: Thomas Klockgether, MD

Contact person: Heike Jacobi, MD

Dept. of Neurology   
University Hospital Bonn   
Sigmund-Freud-Str. 25   
D-53105 Bonn, Germany

e-mail: heike.jacobi@ukb.uni-bonn.de

Publications

Schmitz-Hübsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, Giunti P, Globas C, Infante J, Kang JS, Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schöls L, Szymanski S, van de Warrenburg BP, Dürr A, Klockgether T, Fancellu R. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006 Jun 13;66(11):1717-20.

Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L et al. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology 2008;71:982-9.

Schmitz-Hübsch T, Giunti P, Stephenson DA, Globas C, Baliko L, Saccà F, Mariotti C, Rakowicz M, Szymanski S, Infante J, van de Warrenburg BP, Timmann D, Fancellu R, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Döhlinger S, Kremer B, Melegh B, Filla A, Klockgether T. SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia. Neurology. 2008 Aug 12;71(7):486-92.

Globas C, du Montcel ST, Baliko L, Boesch S, Depondt C, DiDonato S et al. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord. 2008;23:2232-8.
Schulz JB, Borkert J, Wolf S, Schmitz-Hübsch T, Rakowicz M, Mariotti C et al. Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage. 2010;49:158-68.

Schmitz-Hübsch T, Fimmers R, Rakowicz M, Rola R, Zdzienicka E, Fancellu R et al. Responsiveness of different rating instruments in spinocerebellar ataxia patients. Neurology 2010;74:678-84.

Schmitz-Hübsch T, Coudert M, Giunti P, Globas C, Baliko L, Fancellu R et al. Self-rated health status in spinocerebellar ataxia-Results from a European multicenter study. Mov Disord. 2010.
    
Fonteyn EM, Schmitz-Hübsch T, Verstappen CC, Baliko L, Bloem BR, Boesch S et al. Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study. Cerebellum. 2010.

Schmitz-Hübsch T, Coudert M, Tezenas du Montcel S, Giunti P, Labrum R, Dürr A, Ribai P, Charles P, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Fancellu R, Mariotti C, Baliko L, Melegh B, Filla A, Salvatore E, van de Warrenburg BP, Szymanski S, Infante J, Timmann D, Boesch S, Depondt C, Kang JS, Schulz JB, Klopstock T, Lossnitzer N, Löwe B, Frick C, Rottländer D, Schlaepfer
TE, Klockgether T. Depression comorbidity in spinocerebellar ataxia. Mov Disord. 2011 Apr;26(5):870-6.

Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, Dürr A, Marelli C, Globas C, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Schmitz-Hübsch 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. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology. 2011 Sep 13;77(11):1035-41.

Jacobi H, Hauser TK, Giunti P, Globas C, Bauer P, Schmitz-Hübsch T, Baliko L,  Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Ratzka S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, Tezenas du Montcel S, Borkert J, Schulz JB, Klockgether T. Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings. Cerebellum. 2012 Mar;11(1):155-66.

Reetz K, Costa AS, Mirzazade S, Lehmann A, Juzek A, Rakowicz M, Boguslawska R, Schöls L, Linnemann C, Mariotti C, Grisoli M, Dürr A, van de Warrenburg BP, Timmann D, Pandolfo M, Bauer P, Jacobi H, Hauser TK, Klockgether T, Schulz JB; axia Study Group Investigators. Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain. 2013 Mar;136(Pt 3):905-17.

Jacobi H, Rakowicz M, Rola R, Fancellu R, Mariotti C, Charles P, Dürr A, Küper M, Timmann D, Linnemann C, Schöls L, Kaut O, Schaub C, Filla A, Baliko L, Melegh B, Kang JS, Giunti P, van de Warrenburg BP, Fimmers R, Klockgether T. Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument. Cerebellum. 2013 Jun;12(3):418-28.

Fonteyn EM, Schmitz-Hübsch T, Verstappen CC, Baliko L, Bloem BR, Boesch S, Bunn L, Giunti P, Globas C, Klockgether T, Melegh B, Pandolfo M, Schöls L, Timmann D, van de Warrenburg BP. Prospective analysis of falls in dominant ataxias. Eur Neurol. 2013;69(1):53-7.

Tezenas du Montcel S, Durr A, Rakowicz M, Nanetti L, Charles P, Sulek A, Mariotti C, Rola R, Schols L, Bauer P, Dufaure-Garé I, Jacobi H, Forlani S, Schmitz-Hübsch T, Filla A, Timmann D, van de Warrenburg BP, Marelli C, Kang JS, Giunti P, Cook A, Baliko L, Melegh B, Boesch S, Szymanski S, Berciano J, Infante  J, Buerk K, Masciullo M, Di Fabio R, Depondt C, Ratka S, Stevanin G, Klockgether  T, Brice A, Golmard JL. Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. J Med Genet. 2014 Jul;51(7):479-86.

Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014 Sep;137(Pt 9):2444-55.

Linnemann C, Tezenas du Montcel S, Rakowicz M, Schmitz-Hübsch T, Szymanski S, Berciano J, van de Warrenburg BP, Pedersen K, Depondt C, Rola R, Klockgether T, García A, Mutlu G, Schöls L. Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6. Cerebellum. 2015 Jun 9.

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang JS, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol. 2015 Nov;14(11):1101-8.