SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

Orlen H, Melberg A, Raininko R, Kumlien E, Entesarian M, Soderberg P, Pahlman M, Darin N, Kyllerman M, Holmberg E, Engler H, Eriksson U, Dahl N. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):984-92.