English Journal

Seshadri R, Bindu PS, Gupta AK.SourceFrom the Departments of Neuroimaging and Interventional Radiology (R.S., A.K.G.) and Neurology (P.S.B.), National Institute of Mental Health & Neuro Sciences, Bangalore, India.
Neurology.Neurology.2013 Jul 9;81(2):e12-3. doi: 10.1212/WNL.0b013e31829a334c.
Six-month-old twins, born to a consanguineous couple, presented with hypotonia, hypothermia, seizures, and developmental delay. Babies were fair complexioned; scalp hairs were sparse, light-colored, and fragile (figure 1), with regularly spaced twists (pili-torti) and nodes (trichorrhexis-nodosa). M
PMID 23836947

An overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome.

Tümer Z.SourceApplied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark. zeynep.tumer@regionh.dk
Human mutation.Hum Mutat.2013 Mar;34(3):417-29. doi: 10.1002/humu.22266.
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar "kinky" hair, are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of pa
PMID 23281160

L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model.

Donsante A, Sullivan P, Goldstein DS, Brinster LR, Kaler SG.SourceUnit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Rockville, MD 20892-1853, USA.
Annals of neurology.Ann Neurol.2013 Feb;73(2):259-65. doi: 10.1002/ana.23787. Epub 2012 Dec 7.
OBJECTIVE: Menkes disease is a lethal neurodegenerative disorder of infancy caused by mutations in a copper-transporting adenosine triphosphatase gene, ATP7A. Among its multiple cellular tasks, ATP7A transfers copper to dopamine beta hydroxylase (DBH) within the lumen of the Golgi network or secreto
PMID 23224983