SCP2 mutations and neurodegeneration with brain iron accumulation

Neurology. 2015 Nov 24;85(21):1909-11. doi: 10.1212/WNL.0000000000002157. Epub 2015 Oct 23.

Authors

Rita Horvath¹, David Lewis-Smith¹, Konstantinos Douroudis¹, Jennifer Duff¹, Michael Keogh¹, Angela Pyle¹, Nicholas Fletcher¹, Patrick F Chinnery²

Affiliations

¹ From the Institute of Genetic Medicine (R.H., D.L.-S., K.D., J.D., M.K., A.P., P.F.C.), Newcastle University, Newcastle upon Tyne; and The Walton Centre NHS Trust (N.F.), Liverpool, UK.
² From the Institute of Genetic Medicine (R.H., D.L.-S., K.D., J.D., M.K., A.P., P.F.C.), Newcastle University, Newcastle upon Tyne; and The Walton Centre NHS Trust (N.F.), Liverpool, UK. [email protected].

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Brain / metabolism*
Brain / pathology
Carrier Proteins / genetics*
Humans
Iron / metabolism*
Male
Middle Aged
Mutation / genetics*
Neurodegenerative Diseases / diagnosis
Neurodegenerative Diseases / genetics*
Neurodegenerative Diseases / metabolism*

Substances

Carrier Proteins
sterol carrier proteins
Iron

Grants and funding