This report describes spastic paraplegia 43 (SPG43), which is a subtype of spastic paraplegia. The human gene implicated in this disease is C19orf12, which is also implicated in a form of neurodegeneration with brain iron accumulation. See the report for neurodegenerative disease, C19orf12-related (FBhh0000244) for descriptions of experiments done in flies using orthologs of the human C19orf12 gene.
[updated Apr. 2016 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 43, AUTOSOMAL RECESSIVE; SPG43](https://omim.org/entry/615043)
[CHROMOSOME 19 OPEN READING FRAME 12; C19ORF12](https://omim.org/entry/614297)
Spastic paraplegia 43 (SPG43) is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs (Meilleur et al., 2010; pubmed:20039086). [from OMIM:615043; 2016.04.07]
Some individuals with mutations associated with C19orf12 have movement problems such as muscle stiffness (spasticity) but no detectable iron accumulation in the brain; these individuals are considered to have a form spastic paraplegia, SPG43. (Genetics Home Reference, C19orf12; 2016.04.11)