Molecular genetic analysis of genes responsible for inherited axonal peripheral neuropathies.

In this project, we aim to elucidate the pathomechanisms involved in hereditary sensory neuropathies. Hereditary sensory neuropathy (HSN) is a rare variant of hereditary peripheral neuropathies, characterized by progressive sensory loss in the distal parts of the limbs. Therefore, a genotype-phenotype correlation analysis was performed in a vast HSN-cohort of the known HSN-genes (SPTLC1, RAB7, HSN2, NTRK1, NGFB and CCT5) to provide better counseling, to gain more insight in the underlying disease mechanisms and to select mutations for further functional research. The second aim of this project is to identify novel genes for HSN. This is performed by screening functional and positional candidate genes.

Keywords:GENETICS, NEUROPATHIES, PERIPHERAL NEUROPATHIES

Disciplines:Genetics, Systems biology, Molecular and cell biology