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DZNE Clinical ataxia network

Projektbearbeiter:
Machts Wesenberg, Dr. rer. nat. Dr. rer. nat. Judith[117174]
Finanzierung:
Haushalt;
Key tasks within this intersite project are:
• To recruit a representative cohort of Ataxia patients and assess natural progression
• To establish a Ataxia biobank and validate potential biomarkers
• To identify novel Ataxia genes
• To analyze functional effects of Ataxia mutations
• Assembly of biomaterial (blood, CSF, skin, urine) of patients with ataxic syndromes (DELCODE)

Additional key tasks:
• To define changes in cerebral fibre tracts, regional cortical atrophy and functional connectivity
in ataxia
• To correlate structural or functional neuroimaging findings of specific network disruption and
dysfunction with neuropsychological tasks
• Individual medical treatment with Chlorzoxazone (Paraflex) for ataxia patients (SCA1,2,3,6 SAOA); 5 patients have been recruited.

We continuously provide neuropsychological and imaging biomarkers to improve the early detection and prediction of cognitive and behavioral impairment in ataxia.

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