The underlying genetics of neurodegenerative disorders tend not to be well understood. This study links HSP to other neurodegenerative disorders and can potentially facilitate further gene discovery and mechanistic understanding of neurodegenerative diseases.

Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function.

In this study, researchers investigated the underlying genetics of hereditary spastic paraplegia (HSP), a human neurodegenerative disease, by sequencing the exomes of individuals with recessive neurological disorders. Loss-of-function gene mutations in both novel genes and genes previously implicated for this condition were identified, and several were functionally validated. 

Source:  Science Magazine (requires subscription to view full article)

Files

Links

http://www.sciencemag.org/content/343/6170/506

Φεβρουάριος 6, 2014