title: The mild form of menkes disease: a 34 year progress report on the original case.
abstract: Classical Menkes disease is a neurodegenerative disorder caused by mutations in the copper-transporting ATPase ATP7A gene which, when untreated, is usually fatal in early childhood. A mild form of Menkes disease was originally reported in 1981 and clinical progress of the patient at 10 years described subsequently. The causative mutation is c.4085C>T in exon 21, causing an alanine to valine substitution in the highly conserved TM7 domain at the C-terminal end of the Menkes protein. Here we report his status at 34 years of age. Intellectual impairment is mild. Ataxia has nearly resolved but motor retardation, dysarthria and an extreme slow speech rate remain. In contrast to patients with the occipital horn syndrome, there have been no connective tissue complications of his mild Menkes disease. He has been under long-term copper therapy for more than 30 years and he continues to enjoy a good quality of life.
authors: Department of Genetic Medicine, Westmead Hospital, 2145, Sydney, Australia. michel.tchan@health.nsw.gov.au.|Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, Australia. michel.tchan@health.nsw.gov.au.|Department of Genetic Medicine, Westmead Hospital, 533, Wentworthville, 2145, NSW, Australia. michel.tchan@health.nsw.gov.au.
authors: M C
authors: MC
authors: Tchan
authors: Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia.|Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, Australia.
authors: B
authors: B
authors: Wilcken
authors: Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia.|Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, Australia.
authors: J
authors: J
authors: Christodoulou