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SPORTAX

Sporadic degenerative ataxia with adult onset: Natural history study

Progressive ataxia frequently starts in adults without a familial background. These patients may suffer from an acquired ataxia or a genetically determined ataxia despite negative family history. In the majority of them, however, a genetic or acquired cause of ataxia cannot be identified suggesting a sporadic degenerative ataxia. They can be subdivided into two groups. In one group, the underlying brain disease is multiple system atrophy (MSA), specifically MSA of cerebellar type (MSA-C). The characteristic clinical feature of MSA is the presence of severe autonomic failure defined by orthostatic hypotension or urinary incontinence. The second group is distinguished from MSA-C by the lasting absence of severe autonomic failure. These patients have been designated as sporadic adult onset ataxia of unknown aetiology (SAOA). In the first years after ataxia onset, a distinction between MSA-C and SAOA is often not possible.
There are only few studies comparing the phenotype of MSA-C and SAOA, and longitudinal studies focussing on the evolution of the phenotype of these disorders are completely lacking. In particular, the progression rate of SAOA compared to MSA-C has not been defined. In addition, it is unknown which factors predict the development of MSA-C vs. SAOA, and at which time after onset of ataxia, a reliable distinction between both disorders is possible.
To answer these questions, we plan to create a European registry of patients with sporadic degenerative ataxia of adult onset and to perform a natural history study. The planned study will also allow to collect blood samples and other biomaterials from patients with sporadic ataxia, which will be useful for future genetic and biomarker studies.

Principal investigator: Thomas Klockgether, MD

Contact person: Ilaria Giordano, MD

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

e-mail: Ilaria_Anna.Giordano@ukb.uni-bonn.de

Publications

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.

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.