Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

doi:10.1002/humu.22378

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Article

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Human mutation - 1 Oct 2013

Landouré Guida, Zhu Peng-Peng, Lourenço Charles M, Johnson Janel O, Toro Camilo, Bricceno Katherine V, Rinaldi Carlo, Meilleur Katherine G, Sangaré Modibo, Diallo Oumarou, Pierson Tyler M, Ishiura Hiroyuki, Tsuji Shoji, Hein Nichole, Fink John K, Stoll Marion, Nicholson Garth, Gonzalez Michael A, Speziani Fiorella, Dürr Alexandra, Stevanin Giovanni, Biesecker Leslie G, Accardi John, Landis Dennis M D, Gahl William A, Traynor Bryan J, Marques Wilson, Züchner Stephan, Blackstone Craig, Fischbeck Kenneth H, Burnett Barrington G

Abstract excerpt

We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA). The same mutation was subsequently also found in a Brazilian family with features of NBIA, and we...

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PMID: 23857908
DOI: 10.1002/humu.22378
PMCID: PMC3819934

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