Functional imaging in Huntington disease

The molecular and cellular basis of copper dysregulation and its relationship with human pathologies

“…220,223,224 For patients with less severe phenotypes, Cu supplementation therapies result in improved survival rates; however, the response depends on the severity of the ATP7A mutation and the function of the resultant protein. Kaler et al 757 Gu et al 758 Occipital horn syndrome <1:1 000 000 male patients Orphanet 759 Distal motor neuropathy <1:1 000 000 male patients Orphanet 759 Wilson disease 1:30 000 to 1:50 000 people Sandahl et al 760 Leigh syndrome 1-9:100 000 patients Orphanet 759 Mitochondrial phosphate carrier deficiency (Slc25A3) <1:1 000 000 people Malacards 761 Alzheimer's disease Estimated to be over 24 Huntington's disease Ranges from 0.38:100 000 to 2.7:100 000 people Pringsheim et al 765,766 Cancer In 2020 there were 19 300 000 million of new cancer cases estimated Sung et al 767 Aceruloplasminemia Estimated 1:1 000 000 to 1:2 000 000 people Orphanet, 759 Miyayima et al 768 Indian childhood cirrhosis <1:1 000 000 people Orphanet 759 Huppke-Brendel syndrome <1:1 000 000 people Orphanet 759 Cataracts 94 000 000 people World Health Organization 769 Cu supplementation is generally effective for patients in which the mutated ATP7A protein maintains its ability to mobilize Cu + across the BBB. For patients with more severe phenotypes, Cu supplementation is ineffective.…”