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Phenotypic convergence of Menkes and Wilson disease.

Published version
Peer-reviewed

Type

Article

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Authors

Bansagi, Boglarka 
Lewis-Smith, David 
Pal, Endre 
Duff, Jennifer 
Griffin, Helen 

Abstract

Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.1,2 About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, and developmental delay.2 The intracellular copper transport is regulated by 2 P type ATPase copper transporters ATP7A and ATP7B. These proteins are expressed in the trans-Golgi network that guides copper to intracellular compartments, and in copper excess, it relocates copper to the plasma membrane to pump it out from the cells.3ATP7B mutations cause Wilson disease with dystonia, ataxia, tremor, and abnormal copper accumulation in the brain, liver, and other organs.4.

Description

Keywords

Neurological

Journal Title

Neurol Genet

Conference Name

Journal ISSN

2376-7839
2376-7839

Volume Title

2

Publisher

Ovid Technologies (Wolters Kluwer Health)

Rights

Publisher's own licence
Sponsorship
Wellcome Trust (101876/Z/13/Z)
Wellcome Trust (109915_A_15_Z)