This report describes spastic paraplegia 30 (SPG30), which is a subtype of spastic paraplegia; this disease exhibits autosomal recessive inheritance. The human gene implicated in this disease is the kinesin gene KIF1A, which encodes an anterograde motor protein that transports membranous organelles and synaptic vesicle precursors along axonal microtubules. See the report for 'synaptic dysfunction, KIF1-related' (FBhh0000875) for information on experimental results using Drosophila models of this and related diseases.
[updated Aug. 2018 by FlyBase; FBrf0222196]
The hereditary spastic paraplegias (SPG, HSP) are a large group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'). [from OMIM:182600; 15.06.29]
[SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT; SPG30](https://omim.org/entry/610357)
[KINESIN FAMILY MEMBER 1A; KIF1A](https://omim.org/entry/601255)
SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Mildly impaired sensation and cerebellar involvement has been reported in 1 putatively affected family (summary by Erlich et al., 2011; pubmed:21487076). [from OMIM:610357; 2018.08.21]
KIF1A encodes a member of the kinesin family; it functions as an anterograde motor protein that transports membranous organelles and synaptic vesicle precursors along axonal microtubules. [Gene Cards, KIF1A; 2018.08.22]