Leukoencephalopathy with dystonia and motor neuropathy

Leukoencephalopathy with dystonia and motor neuropathy is a disorder caused by a deficiency of sterol carrier protein-2 (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presents with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia.

Nervous system disease

SCP2 [HSA:6342] [KO:K08764]

PMID:16685654 (description, gene)

Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJ, Duran M, Marziniak M

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause  leukencephalopathy with dystonia and motor neuropathy.

Am J Hum Genet 78:1046-52 (2006)