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    Phenotypic convergence of Menkes and Wilson disease.
    Neurol Genet 2016 Dec 17;2(6):e119. Epub 2016 Nov 17.
    John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
    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. Read More

    Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report.
    Medicine (Baltimore) 2016 Sep;95(37):e4842
    aDepartment of Pediatric Gastroenterology, Hepatology and Nutrition bDepartment of Neonatology cDepartment of Pediatric General Surgery and Urology dDepartment of Genetics and Metabolism, MacKay Children's Hospital, Taipei eDepartment of Medicine, MacKay Medical College, New Taipei City fDivision of Biochemical Genetics, Department of Medical Research, MacKay Memorial Hospital gDepartment of Early Childhood Care, National Taipei University of Nursing and Health Sciences hMacKay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan.
    Background: Menkes disease (MD) is a disorder of copper metabolism due to ATP7A gene mutation that leads to severe copper deficiency. Deformed blood vessels can be found in many parts of the body, and intracranial hematoma is generally reported.

    Methods: We report a Taiwanese boy with MD who had recurrent spontaneous subserosal hematoma of ileum presenting as intestinal obstruction, with the 2 episodes 23 months apart. Read More

    Menkes disease: what a multidisciplinary approach can do.
    J Multidiscip Healthc 2016 17;9:371-85. Epub 2016 Aug 17.
    Department of Pediatrics; Section of Pediatric Neurology; Division of Clinical Neurological Sciences; Child Health Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, Canada.
    Disorders of copper homeostasis are currently recognized across the life span. Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by epileptic seizures, developmental regression, failure to thrive, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease"). In this review, we trace the historical background and describe the biochemistry and physiology of copper metabolism and transport, inheritance patterns, molecular genetics, and genotype-phenotype correlations based on current understanding of the disorder. Read More

    Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis.
    G Ital Dermatol Venereol 2017 02 22;152(1):58-65. Epub 2016 Mar 22.
    Section of Psychiatry and Clinical Psychology, Department of Clinical and Experimental Sciences, University of Foggia, Foggia, Italy -
    This article explores three neurocutaneous syndromes (NCSs), i.e. genetic disorders producing developmental abnormalities of the skin and an increased risk of neurological complications. Read More

    Increased apoptosis and hypomyelination in cerebral white matter of macular mutant mouse brain.
    Mol Genet Metab Rep 2015 Sep 9;4:25-9. Epub 2015 Jun 9.
    Department of Pediatrics, Shiga University of Medical Science, Otsu 520-2192, Japan.
    Hypomyelination in developing brain is often accompanied by congenital metabolic disorders. Menkes kinky hair disease is an X-linked neurodegenerative disease of impaired copper transport, resulting from a mutation of the Menkes disease gene, a transmembrane copper-transporting p-type ATPase gene (ATP7A). In a macular mutant mouse model, the murine ortholog of Menkes gene (mottled gene) is mutated, and widespread neurodegeneration and subsequent death are observed. Read More

    Extreme Spindles and Leukoencephalopathy after Acute Lymphoblastic Leukemia Treatment: An Undescribed Association.
    Neurodiagn J 2015 Dec;55(4):235-42
    We report a case of a child whose EEG demonstrated extreme spindles (ES) after acute lymphoblastic leukemia treatment. This finding has not been reported previously. In 1962, Gibbs and Gibbs described the ES EEG pattern due to its high amplitude (200 to 400 μV). Read More

    The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.
    Dis Model Mech 2016 Jan;9(1):25-38
    Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 104, 3584 CM Utrecht, The Netherlands.
    The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to Wilson disease, which is characterized by a predominantly hepatic copper accumulation. Read More

    Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.
    Rev Assoc Med Bras (1992) 2015 Sep-Oct;61(5):407-10
    Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
    Menkes disease is a congenital disorder caused by changes in copper metabolism derived from mutations in the ATP7A gene. It is characterized by physical and neurological alterations. In the neonatal period, these alterations can be nonspecific, which makes early diagnosis a challenge. Read More

    New insights into CNS requirements for the copper-ATPase, ATP7A. Focus on "Autonomous requirements of the Menkes disease protein in the nervous system".
    Am J Physiol Cell Physiol 2015 Dec 14;309(11):C719-21. Epub 2015 Oct 14.
    Centre for Molecular and Medical Research and Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, Deakin University, Melbourne Campus, Burwood, Victoria, Australia; and The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia

    Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.
    Stem Cell Res Ther 2015 Sep 7;6:160. Epub 2015 Sep 7.
    Department of Biological Science, Korea Advanced Institute of Science Technology (KAIST), Daejeon, 305-701, Republic of Korea.
    Introduction: Bone abnormalities, one of the primary manifestations of Menkes disease (MD), include a weakened bone matrix and low mineral density. However, the molecular and cellular mechanisms underlying these bone defects are poorly understood.

    Methods: We present in vitro modeling for impaired osteogenesis in MD using human induced pluripotent stem cells (iPSCs) with a mutated ATP7A gene. Read More

    Autonomous requirements of the Menkes disease protein in the nervous system.
    Am J Physiol Cell Physiol 2015 Nov 12;309(10):C660-8. Epub 2015 Aug 12.
    Department of Biochemistry, University of Missouri, Columbia, Missouri; Department of Nutrition and Exercise Physiology, University of Missouri, Columbia, Missouri; Christopher S. Bond Life Science Center, University of Missouri, Columbia, Missouri;
    Menkes disease is a fatal neurodegenerative disorder arising from a systemic copper deficiency caused by loss-of-function mutations in a ubiquitously expressed copper transporter, ATP7A. Although this disorder reveals an essential role for copper in the developing human nervous system, the role of ATP7A in the pathogenesis of signs and symptoms in affected patients, including severe mental retardation, ataxia, and excitotoxic seizures, remains unknown. To directly examine the role of ATP7A within the central nervous system, we generated Atp7a(Nes) mice, in which the Atp7a gene was specifically deleted within neural and glial cell precursors without impairing systemic copper homeostasis, and compared these mice with the mottled brindle (mo-br) mutant, a murine model of Menkes disease in which Atp7a is defective in all cells. Read More

    Menkes disease with discordant phenotype in female monozygotic twins.
    Am J Med Genet A 2015 Nov 4;167A(11):2826-9. Epub 2015 Aug 4.
    Department of Pediatrics and Neuropediatrics, SLK-Klinikum, Heilbronn, Germany.
    Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene. This neurodegenerative disorder typically affects males and is characterized by impaired copper distribution and the malfunction of several copper-dependent enzymes. We report clinically discordant female monozygotic twins (MZT) with a heterozygous ATP7A mutation. Read More

    Management of Bladder Diverticula in Menkes Syndrome: A Case Report and Review of the Literature.
    Urology 2015 Jul 4;86(1):162-4. Epub 2015 Jun 4.
    Department of Urology, Louisiana State University Health Sciences Center, Children's Hospital of New Orleans, New Orleans, LA.
    Menkes syndrome is a genetic disorder of copper metabolism, often with urologic complications, including bladder diverticula and vesicoureteral reflux. A 1-year-old boy with Menkes syndrome presented with recurrent urinary tract infections and incomplete bladder emptying secondary to 2 large bladder diverticula. He underwent robot-assisted excision of both diverticula with subsequent improved emptying and resolution of urinary tract infections. Read More

    Case Study: Somatic Sprouts and Halo-Like Amorphous Materials of the Purkinje Cells in Huntington's Disease.
    Cerebellum 2015 Dec;14(6):707-10
    Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, 920-8640, Japan.
    We described a 63-year-old Japanese female with genetically confirmed Huntington's disease who showed unusual pathological findings in the cerebellum. This case exhibited typical neuropathological features as Huntington's disease, including severe degeneration of the neostriatum and widespread occurrence of ubiquitin and expanded polyglutamine-positive neuronal intranuclear and intracytoplasmic inclusions. The cerebellum was macroscopically unremarkable; however, somatic sprouts and halo-like amorphous materials of Purkinje cell with a large amount of torpedoes were noteworthy. Read More

    A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.
    Pediatr Neonatol 2014 Nov 14. Epub 2014 Nov 14.
    Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Division of Biochemical Genetics, Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Early Childhood Care and Education, Mackay Junior College of Medicine, Nursing and Management, New Taipei City, Taiwan. Electronic address:
    Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene. Deficiency in copper-dependent enzymes results in the unique kinky hair appearance, neurodegeneration, developmental delay, seizures, failure to thrive and other connective tissue or organ abnormalities. Other than biochemical tests, DNA-based diagnosis is now playing an important role. Read More

    The role of copper ions in pathophysiology and fluorescent sensors for the detection thereof.
    Chem Commun (Camb) 2015 Apr;51(26):5556-71
    Department of Chemistry, Korea Univesity, Seoul 136-701, Korea.
    Copper ions are indispensible to life and maintaining tight control over the homeostasis of copper ions in the body is a prerequisite to sustaining health. Aberrations in normal copper levels, both systemic as well as on a tissue or cellular scale, are implicated in a wide range of diseases, such as Menkes disease, Wilson's disease, Alzheimer's disease, Parkinson's disease and transmissible spongiform encephalopathy (prion diseases). The current understanding of how copper influences these diseases is described. Read More

    Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.
    Neurobiol Dis 2015 Sep 10;81:154-61. Epub 2015 Jan 10.
    Department of Cell Biology, Emory University, Atlanta, GA 30322, USA; Center for Social Translational Neuroscience, Emory University, Atlanta, GA 30322, USA. Electronic address:
    ATP7A mutations impair copper metabolism resulting in three distinct genetic disorders in humans. These diseases are characterized by neurological phenotypes ranging from intellectual disability to neurodegeneration. Severe ATP7A loss-of-function alleles trigger Menkes disease, a copper deficiency condition where systemic and neurodegenerative phenotypes dominate clinical outcomes. Read More

    Menkes disease presenting with epilepsia partialis continua.
    Case Rep Neurol Med 2014 23;2014:525784. Epub 2014 Nov 23.
    Pediatric Neurology Department, National Neurosciences Institute, King Fahad Medical City, Riyadh, Saudi Arabia ; Pediatric Neurology Division, University of Saskatchewan, Saskatoon, Canada.
    Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua. Case Presentation. Read More

    Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model.
    Mol Genet Metab 2014 Dec 13;113(4):294-300. Epub 2014 Oct 13.
    Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:
    Mottled-dappled (Mo-dp) is a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5' region of Atp7a, the mouse ortholog of ATP7A. Affected mutants die in utero at embryonic day 17, and show bending and thickening of the ribs and distortion of the pectoral and pelvic girdles and limbs. To characterize this allele, we designed a custom 4x180K microarray on the mouse X chromosome and performed comparative genomic hybridization using extracted DNA from normal and carrier Mo-dp females, and identified an approximately 9 kb deletion. Read More

    Menkes disease in affected females: the clinical disease spectrum.
    Am J Med Genet A 2015 Feb 26;167A(2):417-20. Epub 2014 Nov 26.
    Division of Genetics & Metabolism, Children's National Health System, Washington, District of Columbia; The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.
    Menkes disease (MD; OMIM 309400) is an X-linked, neurodegenerative disorder resulting from deficient activity of copper-dependent enzymes and caused by alterations in the APT7A gene. In its classic form, it manifests in boys with hypotonia, seizures, skin and joint laxity, hair twisting (pili torti), cerebrovascular tortuosity, and bladder diverticulae. Menkes disease phenotypes have been reported in females with X; autosome translocations-disrupting ATP7A gene function- or ATP7A gene alterations. Read More

    Visual diagnosis: 8-day-old hypotonic newborn with sparse hair.
    Pediatr Rev 2014 Nov;35(11):e53-6
    Serviço Pediatria, Centro Hospitalar Vila Nova de Gaia, Portugal.
    A hypotonic newborn or infant with pale skin and sparse, friable, hypopigmented, or depigmented hair should have his copper and ceruloplasmin plasma levels evaluated because this is the usual clinical presentation of Menkes disease. Menkes disease is an X-linked recessive disease caused by a defect in the ATP7A gene, identified in 95% to 98% of the cases. Identifying the mutation confirms the diagnosis and allows for prenatal counseling and diagnosis in a future pregnancy. Read More

    Role of optic microscopy for early diagnosis of Menkes disease.
    Rom J Morphol Embryol 2014 ;55(3):953-6
    Discipline Pediatric Neurology, Department of Neurology, Pediatric Neurology, Psychiatry, Neurosurgery, Psychiatry for Children and Adolescents, "Carol Davila" University of Medicine and Pharmacy, Clinic of Pediatric Neurology, "Alexandru Obregia" Clinical Psychiatric Hospital, Bucharest, Romania;
    We report the case of a male patient with a normal development in the first three months of life, presenting for global regression, central axial hypotonic syndrome, pyramidal syndrome, focal epileptic seizures, and a particular aspect of the hair - almost absent, short, sparse, lightly colored, at age of five months, becoming coarse, twisted (kinky hair) by the age of 21 months. Different diseases associate similar neurological and macroscopic aspect of the hair (biotinidase deficiency, argininosuccinic aciduria, aminoaciduria, giant axonal neuropathy, trichothiodistrophy and Menkes syndrome). The microscopic aspect of the patient's hair showing normal hair, silver colored hair, hair shafts twisting 1800, trichoclasis, and trichoptilosis, was highly characteristic for Menkes disease. Read More

    Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.
    J Trace Elem Med Biol 2014 Oct 28;28(4):427-30. Epub 2014 Aug 28.
    Section on Translational Neuroscience; Molecular Medicine Program, NICHD, Porter Neuroscience Research Center II, Building 35, Room 2D-971, 35A Convent Drive, MSC 3754, National Institutes of Health, Bethesda, MD 20892-3754, United States. Electronic address:
    Menkes disease is an X-linked recessive disorder of brain copper metabolism caused by mutations in an essential mammalian copper transport gene, ATP7A. Untreated affected individuals suffer failure to thrive and neurodevelopmental delays that usually commence at 6-8 weeks of age. Death by age three years is typical. Read More

    Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice - an animal model of Menkes disease.
    PLoS One 2014 23;9(9):e107641. Epub 2014 Sep 23.
    Department of Molecular Biology, Institute of Genetics and Animal Breeding, Polish Academy of Sciences, Magdalenka, Poland.
    The biological interaction between copper and iron is best exemplified by the decreased activity of multicopper ferroxidases under conditions of copper deficiency that limits the availability of iron for erythropoiesis. However, little is known about how copper deficiency affects iron homeostasis through alteration of the activity of other copper-containing proteins, not directly connected with iron metabolism, such as superoxide dismutase 1 (SOD1). This antioxidant enzyme scavenges the superoxide anion, a reactive oxygen species contributing to the toxicity of iron via the Fenton reaction. Read More

    Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients.
    Epilepsy Res 2014 Nov 30;108(9):1597-603. Epub 2014 Aug 30.
    Child Neuropsychiatry, Regional Epilepsy Center, Brescia, Italy.
    Background: Epilepsy is a frequent and severe feature of Menkes disease (MD) but only few studies described the long-term evolution of these children. We report a series of 28 epileptic MD patients, with clinical characteristics, EEG abnormalities, brain malformations and long-term outcome.

    Methods: EEG, clinical characteristics and neuroimaging features in 28 MD patients were analyzed at the onset of epilepsy and after long-term follow-up (at least 4 years). Read More

    Determination of the serum metallothionein (MT)1/2 concentration in patients with Wilson's disease and Menkes disease.
    J Trace Elem Med Biol 2014 Oct 13;28(4):441-7. Epub 2014 Aug 13.
    Graduate School of Health Sciences, Gunma University, Maebashi, Gunma, Japan.
    We have developed an easy and specific enzyme-linked immunoassay (ELISA) for the simultaneous determination of serum metallothinein-1 (MT-1) and 2 (MT-2) in both humans and experimental animals. A competitive ELISA was established using a specific polyclonal antibody against rat MT-2. The antibody used for this ELISA had exhibited the same cross-reactivity with MT in humans and experimental animals. Read More

    Small amounts of functional ATP7A protein permit mild phenotype.
    J Trace Elem Med Biol 2015 8;31:173-7. Epub 2014 Aug 8.
    Center for Applied Human Genetics, Kennedy Center, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Denmark. Electronic address:
    Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy. These disorders are mainly seen in male individuals, but a few affected females have been described. More than 400 different mutations have been identified in the ATP7A gene. Read More

    Changes in body weight and height in survivors of Menkes disease.
    J Trace Elem Med Biol 2014 Oct 3;28(4):470-3. Epub 2014 Aug 3.
    Department of Hygiene and Public Health, Teikyo University, Tokyo, Japan.
    Objective: To explore the changes in the body weight and height of Menkes disease (MNK) patients treated with long-term copper-histidine.

    Methods: A survey involving a retrospective review of medical records or summaries of MNK patients was conducted. Patients were 44 males born after 1994, and their feeding method and genetic analysis of the ATP7A gene were reviewed. Read More

    Cerebellar expression of copper chaperone for superoxide, cytosolic cu/zn-superoxide dismutase, 4-hydroxy-2-nonenal, acrolein and heat shock protein 32 in patients with menkes kinky hair disease: immunohistochemical study.
    Yonago Acta Med 2014 Mar 28;57(1):23-35. Epub 2014 Apr 28.
    Division of Neuropathology, Department of Pathology, School of Medicine, Tottori University Faculty of Medicine, Yonago, 683-8503, Japan.
    Background: To clarify the pathogenesis of cerebellar Purkinje cell death in patients with Menkes kinky hair disease (MD), a disorder of copper absorption, we investigated the morphological and functional abnormalities of residual Purkinje cells in MD patients and the mechanism of cell death.

    Methods: Seven MD patients and 39 neurologically normal autopsy cases were studied. We performed histopathological and quantitative analyses of the Purkinje cells. Read More

    Epilepsy in children with Menkes disease: a systematic review of literature.
    J Child Neurol 2014 Dec 17;29(12):1757-64. Epub 2014 Jul 17.
    Department of Child Neuropsychiatry, Salerno University, Salerno, Italy.
    Menkes disease is a lethal multisystemic disorder of copper metabolism characterized by connective tissue abnormalities, progressive neurodegeneration and peculiar "kinky hair." Epilepsy is one of the main clinical features of this disease but it has been described in detail by only a few authors. Most patients develop seizures from 2 to 3 months of age, accompanied by a neurodevelopmental regression. Read More

    Copper mediated neurological disorder: visions into amyotrophic lateral sclerosis, Alzheimer and Menkes disease.
    J Trace Elem Med Biol 2015 Jan 2;29:11-23. Epub 2014 Jun 2.
    Department of Biotechnology, Meerut Institute of Engineering and Technology, Meerut, India.
    Copper (Cu) is a vital redox dynamic metal that is possibly poisonous in superfluous. Metals can traditionally or intricately cause propagation in reactive oxygen species (ROS) accretion in cells and this may effect in programmed cell death. Accumulation of Cu causes necrosis that looks to be facilitated by DNA damage, followed by activation of P53. Read More

    [Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk].
    Zhongguo Dang Dai Er Ke Za Zhi 2014 Jun;16(6):624-8
    Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
    Menkes disease is a rare X-linked recessive disorder characterized by multi-systemic disorder of copper deficiency caused by ATP7A gene mutation. In this study, the clinical and laboratory features of three patients with Menkes disease were analyzed. Prenatal diagnosis had been performed for a fetus of a family. Read More

    Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
    Metab Brain Dis 2015 Feb 13;30(1):75-81. Epub 2014 Jun 13.
    Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
    Menkes disease is a very rare X-linked copper metabolism disorder that results from an ATP7A gene mutation. With the advent of subcutaneous copper-histidine therapy, the early diagnosis of Menkes disease becomes of utmost importance for patients' prognosis. In the present study, the clinical characteristics of 12 Korean patients with Menkes disease (11 males and 1 female from 11 unrelated families) were described along with the mutation spectrum. Read More

    Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.
    Brain Dev 2015 Feb 29;37(2):223-9. Epub 2014 May 29.
    Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, South Korea, Seoul National University College of Medicine, South Korea. Electronic address:
    Objective: Menkes disease (MD) is an X-linked recessive disorder characterized by progressive neuro-degeneration. There are few reports of epilepsy and electroencephalography (EEG) findings and few reports of MD patients in Korea. We explored MD genotypes and phenotypes, including epilepsy, in Korean patients. Read More

    ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.
    Ann N Y Acad Sci 2014 May 22;1314:49-54. Epub 2014 Apr 22.
    Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
    Diverse mutations in the gene encoding the copper transporter ATP7A lead to X-linked recessive Menkes disease or occipital horn syndrome. Recently, two unique ATP7A missense mutations, T994I and P1386S, were shown to cause isolated adult-onset distal motor neuropathy. These mutations induce subtle defects in ATP7A intracellular trafficking resulting in preferential accumulation at the plasma membrane compared to wild-type ATP7A. Read More

    AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.
    Ann N Y Acad Sci 2014 May 22;1314:55-63. Epub 2014 Apr 22.
    Unit of Metabolism, Department of Pediatrics, Bambino Gesu Children's Hospital, Rome, Italy; Section on Translational Neuroscience, Molecular Medicine Program, NICHD/NIH, Bethesda, Maryland.
    MEDNIK (mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia) syndrome has been recently described as a new disorder of copper metabolism. This multisystem disease combines clinical and biochemical signs of both Menkes and Wilson's diseases, in which liver copper overload is treatable using zinc acetate therapy. MEDNIK syndrome is caused by mutation of the AP1S1 gene, which codes for the σ1A subunit of adaptor protein complex 1, and directs intracellular trafficking of copper pumps ATP7A and ATP7B. Read More

    The many "faces" of copper in medicine and treatment.
    Biometals 2014 Aug 20;27(4):611-21. Epub 2014 Apr 20.
    Chair and Department of Medical Chemistry, Faculty of Medicine, Medical University of Lublin, 4A Chodzki Street, 20-093, Lublin, Poland.
    Copper (Cu) is an essential microelement found in all living organisms with the unique ability to adopt two different redox states-in the oxidized (Cu(2+)) and reduced (Cu(+)). It is required for survival and serves as an important catalytic cofactor in redox chemistry for proteins that carry out fundamental biological functions, important in growth and development. The deficit of copper can result in impaired energy production, abnormal glucose and cholesterol metabolism, increased oxidative damage, increased tissue iron (Fe) accrual, altered structure and function of circulating blood and immune cells, abnormal neuropeptides synthesis and processing, aberrant cardiac electrophysiology, impaired myocardial contractility, and persistent effects on the neurobehavioral and the immune system. Read More

    Translational research investigations on ATP7A: an important human copper ATPase.
    Ann N Y Acad Sci 2014 May 15;1314:64-8. Epub 2014 Apr 15.
    Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
    In more than 40 years since copper deficiency was delineated in pediatric subjects with Menkes disease, remarkable advances in our understanding of the clinical, biochemical, and molecular aspects of the human copper transporter ATP7A have emerged. Mutations in the gene encoding this multitasking molecule are now implicated in at least two other distinctive phenotypes: occipital horn syndrome and ATP7A-related isolated distal motor neuropathy. Several other novel inherited disorders of copper metabolism have been identified in the past several years, aided by advances in human gene mapping and automated DNA sequencing. Read More

    A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.
    Pediatr Neurol 2014 Apr 5;50(4):417-20. Epub 2014 Jan 5.
    The Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
    Background: Determining the relationship between clinical phenotype and genotype in genetic diseases is important in clinical practice. In general, frameshift mutations are expected to produce premature termination codons, leading to production of mutant transcripts destined for degradation by nonsense-mediated decay. In X-linked recessive diseases, male patients with frameshift mutations typically have a severe or even lethal phenotype. Read More

    Positron emission tomography for measurement of copper fluxes in live organisms.
    Ann N Y Acad Sci 2014 May 14;1314:24-31. Epub 2014 Mar 14.
    Department of Radiology and Advanced Imaging Research Center, University of Texas Southwestern Medical Center, Dallas, Texas.
    Copper is an essential nutrient for the physiology of live organisms, but excessive copper can be harmful. Copper radioisotopes are used for measurement of copper fluxes in live organisms using a radioactivity assay of body fluids or whole-body positron emission tomography (PET). Hybrid positron emission tomography-computed tomography (PET/CT) is a versatile tool for real-time measurement of copper fluxes combining the high sensitivity and quantification capability of PET and the superior spatial resolution of CT for anatomic localization of radioactive tracer activity. Read More

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