Research Article

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

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Science  31 Jan 2014:
Vol. 343, Issue 6170, pp. 506-511
DOI: 10.1126/science.1247363

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Neurodegenerative Genetics

The underlying genetics of neurodegenerative disorders tend not to be well understood. Novarino et al. (p. 506; see the Perspective by Singleton) 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.