G11
Conditions
Interventions
Group 1: Hereditary spinocerebellar ataxia ((autosomal dominant) SCA1,2,6, spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3), (autosomal recessive) early-onset cerebellar ataxia (EOA))
The
Sponsors
Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE) c/o Klinik und Poliklinik für Neurologie Universitätsklinikum Bonn
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
Inclusion criteria: - Written, informed of consent - Clinically and / or anamnestic confirmed ataxia disease - Clinically and / or anamnestic confirmed HSP disease - Clinical evidence (according to inclusion / exclusion criteria) of HSP disease (without genetic confirmation at the time of inclusion) - Healthy first-degree relatives of patients with hereditary ataxias or dominant-autosomal hereditary HSP - Healthy controls: Individuals over the age of 18 without known familial neurodegenerative or cerebrovascular disease who agree to participate
Exclusion criteria
Exclusion criteria: None
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary objective is the assessment and comparison of the rates of disease progression using ataxia milestones (Klockgether et al. 1998) and the Scale for the Assessment and Rating of Ataxia (SARA) (Schmitz-Hübsch et al. 2006) in different degenerative ataxias. For hereditary spastic paraplegia the primary objective is the rate of disease progression using the Spastic Paraplegia Rating Scale (SPRS) (Schüle et al. 2006). Apart from determining the rate of progression, it will be studied whether rate of progression is determined by genotype, repeat length (SCAs), gender and other factors. | — |
Secondary
| Measure | Time frame |
|---|---|
| A secondary objective is to determine the kind and order of occurrence of accompanying non-ataxia resp. non spasticity/paraplegia symptoms and development of new rating tools. To this end, the Inventory of Non-Ataxia Signs (INAS) for studying ataxia individuals (Jacobi et al. 2013) or SPRS-Inventory for studying HSP individuals (Schüle et al. 2006), respectively, will be used. Other objectives are the assessment of functional disability, QoL and depressive symptoms. In selected centers additional substudies (instrumented gait, posture and/or oculomotor assessment, neuropsychological testing, MRI) will be performed. | — |
Countries
Germany
Outcome results
None listed