From left: Anne Kjersti Erichsen, Jeanette Koht, Chantal Tallaksen,
Sven Olav Løstegaard, Kaja Selmer
Introduction: Hereditary neurodegenerative disorders include diseases of both the central and peripheral nervous system, often with additional multisystemic involvement. These disorders have been poorly investigated. However, the use of molecular analyses has enormously increased knowledge in this field during the past 10-20 years.
Our group started with studies on spinocerebellar degenerations, hereditary spastic paraparesis (HSP) and hereditary ataxia (HA), in 2002. The first step was to evaluate the prevalence of these disorders in South East Norway. In doing so we also assessed the phenotypes and genotypes of the recorded cases, with the collaboration of international partners and of the Department of Medical Genetics at Ullevål University Hospital. A database and biobank are now well established for Norwegian subjects with these disorders, currently including about 700 subjects (as of november 2011). A genetic diagnosis has been established for 60% of the patients with an autosomal dominant HSP, but only for 20% of the HA patients.
Future prospects are to further genetically characterize the patients, using newly developed molecular laboratory techniques available at the Department of Medical Genetics. Ongoing collaboration with international groups will also prevail. Hopefully, a better understanding of the underlying molecular mechanisms will enlighten key pathogenetic mechanisms and enable us to improve follow-up and treatment of these patients in the future.
Among HSP patients we found some subjects with adrenomyeloneuropathy (AMN). These may present with a spastic paraparesis phenotype, but are a sub group of adrenoleukodystrophy (ALD) and belong to the family of hereditary neurometabolic diseases. All Norwegian AMN and ALD subjects have been investigated and a prevalence study has been completed in Norway. Additional investigations of the ALD phenotypes are ongoing.
Chantal ME Tallaksen
- Iselin Marie Wedding, MD, PhD
- Siri Lynne Rydning, MD, PhD student
- Kaja Selmer post doc MD PhD
- Jeanette Koht, MD, PhD
- Morten Horn, MD, PhD
Partners at OUS, Ullevål, department of medical genetics:
- Doriana Misceo, dr s PhD
- Dag Undlien, MD PhD
- Eirik Frengen MD PhD
Professor Joel Glover (Oslo University Hospital-Rikshospitalet and Norwegian Center for Stem Cell Research), with PhD student Hege Fjerdingstad.
Professor Laurence Bindoff
Collaborative international networks:
Paris France: Professor A Brice and researcher Alexandra Dürr, Salpêtrière Hospital, Inserm Research Unit.
Germany: Ataxia Study Group (Klockgether and al, Bonn, Tyskland, EUROSCA study)