A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport.

ABSTRACT:

Background

Hereditary spastic paraplegias are a group of neurological disorders characterized by progressive distal degeneration of the longest ascending and descending axons in the spinal cord, leading to lower limb spasticity and weakness. One of the dominantly inherited forms of this disease (spastic gait type 10, or SPG10) is caused by point mutations in kinesin-1A (also known as KIF5A), which is thought to be an anterograde motor for neurofilaments.

Results

We investigated the effect of an SPG10 mutation in kinesin-1A (N256S-kinesin-1A) on neurofilament transport in cultured mouse cortical neurons using live-cell fluorescent imaging. N256S-kinesin-1A decreased both anterograde and retrograde neurofilament transport flux by decreasing the frequency of anterograde and ret

SUBMITTER: Wang L 

PROVIDER: S-EPMC3000839 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature