ZFYVE26
MIM.270700 14q22-q24
ZFYVE26 encodes a zinc-finger protein with a FYVE domain, named spastizin. ZFYVE26 is the cause of SPG15.
Hereditary spastic paraplegias (SPGs) describes a group of clinically and genetically heterogeneous inherited neurodegenerative disorders characterized by progressive spasticity affecting primarily the lower limbs.
Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Both "uncomplicated" and "complicated" forms have been described with various modes of inheritance. Sixteen loci for autosomal-recessive "complicated" HSP have been mapped.
The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome.
References
Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G. Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002. PMID: #18394578#