We previously mapped an autosomal recessive form of ALS (designated as ALS5) to a 6cM region on chromosome 15. We have now identified mutations in the gene KIAA1840 in these three ALS5-linked families and four other North American families. We found that ALS5 and SPG11 are allelic motor neuron disease cause by the genetic defect of the same gene. In this application, we propose to develop and characterize ALS5-linked SPG11 knockin and knockout mouse models for dissection of the molecular mechanism underlying the motor neuron degeneration in this group of disease.
|Effective start/end date||5/15/16 → 4/30/18|
- National Institute of Neurological Disorders and Stroke (5R21NS096572-02 REVISED)