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

1 Jan 2010

Abstract excerpt

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...

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PMID: 21087519
DOI: 10.1186/1750-1326-5-52

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