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SHR Neuro Cancer Cardio Metab Microb Lipid

Mutation distribution and identification of novel genes in hereditary neuropathies

Hereditary neuropathies are one of the most frequently inherited causes of neurological disability with an estimated prevalence of 1 in 2500. Age at onset is usually during the first two decades of life or sometimes later. Molecular genetic examinations have shown marked genetic heterogenety with more than 30 genes identified. In some CMT patients and families the underlying gene still has to be found.
In this project we aim to recruit CMT patients and families in all parts of Austria. We will carry out detailed clinical, electrophysiological and genetic examinations and perform epidemiological studies. Further we aim to identify a novel gene locus in autosomal dominant HSN and MSN type 1.
Another important aim of this project is to utilize the already existing collaborations with other European groups to create a network with special focus on peripheral neuropathies.
Project Leader:
Auer-Grumbach Michaela
Type of Research
basic research
Auer-Grumbach M., Project Leader
Pieber T., Co-worker
Speicher M., Co-worker
MUG Research Units
Department of Internal Medicine, Joint Facilities
Division of Endocrinology and Diabetology
Project partners
Abteilung für Neurologie, LKH Klagenfurt, Austria
Contact person: Karin Gruber, MD;
Abteilung für Neurologie, Oberwart, Austria
Contact person: Franz Höger, MD;
Austrian peripheral neuropathy study group, Austria
Funded by
FWF, Fonds zur Förderung der Wissenschaftlichen Forschung, Wien, Austria

FWF-Project-Link: P19455
Project results published
> SNP array-based whole genome homozygosity mapping ... J Neurol. 2012; 259(3):515-523
> The N355K atlastin 1 mutation is associated with h... Eur J Neurol. 2012; 19(7):992-998
> Targeted high-throughput sequencing identifies mut... Am J Hum Genet. 2011; 88(1):99-105
> Dominant GDAP1 mutations cause predominantly mild ... Neurology. 2011; 77(6): 540-548.
> Fibulin-5 mutations link inherited neuropathies, a... Brain. 2011; 134(Pt 6):1839-1852
> Genetic spectrum of hereditary neuropathies with o... Brain. 2011; 134(Pt 9):2664-2676
> SNP-array based whole genome homozygosity mapping:... Eur J Med Genet. 2010; 54(3):214-219
> Alterations in the ankyrin domain of TRPV4 cause c... Nat Genet. 2010; 42(2):160-164
> Mutations in the SPTLC2 subunit of serine palmitoy... AMER J HUM GENET. 2010; 87(4): 513-522.
> Identification of small gains and losses in single... Nucleic Acids Res. 2009; 37(15): e105-e105.
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