Project Friedreich ataxia in the German Network of Hereditary Movement Disorders (GeNeMove)

With a prevalence of 1 per 30.000 to 40.000, autosomal recessive Friedreich Ataxia (FA) represents the most frequent inherited ataxia. FA is a severely debilitating disease characterised by progressive ataxia (unsteadiness of stance and gait), dysarthria (slurred speech), spasticity, deep sensory loss, muscular weakness primarily affecting the lower limbs, visual and auditory loss, and skeletal deformities (e.g. scoliosis). Some FA patients may also develop cardiomyopathy (muscular weakess of the heart) and/or diabetes mellitus (glucose intolerance). Disease onset is usually around puberty, but it may vary from infancy to adulthood. There is no cure for FA so far.

With the support of many clinical centres, the German Network of Hereditary Movement Disorders (GeNeMove) followed a large number of FA patients over several years and was thereby able to study the natural course of FA in a large German cohort. All data have been allocated in an Internet-based database accessible to the collaborating clinicians and researchers. Furthermore, biosamples (Blood, DNA, CSF and urine) were stored in a centralised biobank. A clinical ataxia scale developed and validated for the use in autosomal dominant ataxia (Scale for the Assessment and Rating of Ataxia, SARA) was established for the application in FA.

Further substudies focused on the development of brain atrophy, as assessed by magnetic resonance imaging (MRI), the progression of peripheral neuropathy, as assessed by nerve conduction studies, and cardiac involvement in FA, as assessed by heart MRI. Finally, the GeNeMove database provided the opportunity for the first European drug trial in FA , the Idebenone trial.

Principal investigator: Jörg B. Schulz, MD

Department of Neurology   
University Hospital Aachen  
Pauwelsstraße 30
52074 Aachen, Germany

Publications

Bürk K, Mälzig U, Wolf  S, Heck S, Dimitriadis K, Schmitz-Hübsch T, Hering S, Lindig TM, Haug V, Timmann D, Degen I, Kruse B, Dörr JM, Ratzka S, Ivo A, Schöls L, Boesch S, Klockgether T, Klopstock T, Schulz JB (2009). Comparison of three clinical rating scales in Friedreich ataxia (FRDA). Mov Dis 24:1779-1784

Schulz, JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M (2009) Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol 5: 222-234