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    Somatic sprouts of the Purkinje cells in a patient with multiple system atrophy.
    Neuropathology 2018 Mar 25. Epub 2018 Mar 25.
    Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
    We describe the post mortem case of a 71-year-old Japanese woman diagnosed as having multiple system atrophy (MSA), showing somatic sprouting formation of Purkinje cells. The patient had suffered from frequent falling episodes and clumsiness of the left hand since the age of 67 years. Orthostatic hypotension and parkinsonism subsequently emerged. Read More

    Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report.
    Medicine (Baltimore) 2018 Feb;97(6):e9869
    Department of Pediatric Gastroenterology, Hepatology and Nutrition.
    Rationale: Menkes disease (MD), also known as Menkes kinky hair disease, is a fatal neurodegenerative disease caused by a defect in copper metabolism. The symptoms involve multiple organ systems, such as the brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. There is currently no cure for this disease entity, and patients with the classic form of MD usually die from complications between 6 months and 3 years of age. Read More

    [Recent Trends of Trace Element Studies in Clinical Medicine in Japan].
    Nihon Eiseigaku Zasshi 2018 ;73(1):75-82
    Department of Health and Dietetics, Faculty of Health and Medical Sciences, Teikyo Heisei University.
    The deficiency or excess intake of trace elements, including zinc, copper, selenium and iodine, has often been reported. Zinc deficiency is often observed in infants fed breast milk with low zinc concentration, individuals administered chelating medicines, athletes and patients with diabetes mellitus, hepatic cirrhosis or nephrosis syndrome. Menkes disease is associated with severe copper deficiency, and there is no effective treatment. Read More

    Menkes disease: A rare disorder.
    J Pak Med Assoc 2017 Oct;67(10):1609-1611
    Aga Khan University Hospital, Karachi, Pakistan.
    Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Read More

    13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
    Metab Brain Dis 2017 Aug 28;32(4):1173-1183. Epub 2017 Apr 28.
    "Mauro Baschirotto" Institute for Rare Diseases - B.I.R.D. Foundation n.p.o., via B. Bizio, 1 36023, Costozza di Longare, Vicenza, Italy.
    ATP7A is a copper-transporting P-type adenosine triphosphatase whose loss of function leads to the Menkes disease, an X-linked copper metabolism multi-organ disorder (1 in 100.000 births). Here we document our experience with the ATP7A linked diseases in Italy. Read More

    [Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Apr;34(2):220-223
    Department of Pediatrics, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China.
    Objective: To delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease.

    Methods: Clinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene. Read More

    Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.
    Metab Brain Dis 2017 Aug 10;32(4):1123-1131. Epub 2017 Apr 10.
    Department of Pediatrics, Peking University First Hospital, No. 1 Xi'anmen Street, West District, Beijing, 100034, China.
    Menkes disease (MD) is a fatal X-linked multisystem disease caused by mutations in ATP7A. In this study, clinical and genetic analysis was performed in 24 male MD patients. Development delay, seizures, kinky coarse hair, and dystonia were found in 24, 22, 24, and 24 patients, respectively. Read More

    Menkes Disease Mimicking Child Abuse.
    Pediatr Dermatol 2017 May 20;34(3):e132-e134. Epub 2017 Mar 20.
    Division of Dermatology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.
    Althouygh Menkes disease has well-recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5-month-old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. Read More

    The role of insufficient copper in lipid synthesis and fatty-liver disease.
    IUBMB Life 2017 04 8;69(4):263-270. Epub 2017 Mar 8.
    Department of Biological Sciences Anchorage, University of Alaska Anchorage, Anchorage, Alaska.
    The essential transition metal copper is important in lipid metabolism, redox balance, iron mobilization, and many other critical processes in eukaryotic organisms. Genetic diseases where copper homeostasis is disrupted, including Menkes disease and Wilson disease, indicate the importance of copper balance to human health. The severe consequences of insufficient copper supply are illustrated by Menkes disease, caused by mutation in the X-linked ATP7A gene encoding a protein that transports copper from intestinal epithelia into the bloodstream and across the blood-brain barrier. Read More

    Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.
    J Biol Chem 2017 03 24;292(10):4113-4122. Epub 2017 Jan 24.
    From the School of Biological Sciences, Monash University, Clayton, Victoria 3800, Australia
    Copper is an essential biometal, and several inherited diseases are directly associated with a disruption to normal copper homeostasis. The best characterized are the copper deficiency and toxicity disorders Menkes and Wilson diseases caused by mutations in the p-type Cu-ATPase genes and , respectively. Missense mutations in the C-terminal portion of have also been shown to cause distal motor neuropathy, whereas polymorphisms in are associated with increased risk of Alzheimer's disease. Read More

    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 . Other mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy. 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

    The copper rush of the nineties.
    Metallomics 2016 09 1;8(9):824-30. Epub 2016 Aug 1.
    Laboratory of Biochemistry and Molecular Biology, Tomsk State University, Tomsk 634050, Russian Federation.
    The nineties witnessed the discovery of the copper ATPases, enzymes which transport copper across the cytoplasmic membranes of bacteria and eukaryotes. In the same decade, several other key components of copper homeostasis have also been discovered, like copper chaperones and plasma membrane copper transporters. This has finally led to a molecular understanding of two inherited human diseases related to copper: Menkes disease, manifested by systemic copper deficiency, and Wilson disease, caused by defective secretion of excess copper. Read More

    Copper comes of age in Melbourne.
    Metallomics 2016 09 11;8(9):816-23. Epub 2016 Jul 11.
    Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, Deakin University, Australia.
    When we were asked to produce articles for this volume, it seemed appropriate to us to co-author an article on the history and impact of copper research in Melbourne. It is appropriate because over many years, decades in fact, we worked closely together and with Professor David Danks to identify the molecular defect in Menkes disease. This work was always carried out with the intention of understanding the nature of the copper homeostatic mechanisms and a "copper pathway" in the cell, that David had the prescience to predict must exist despite scepticism from granting agencies! He indeed inspired us to pursue research careers in this field. Read More

    Metallo-pathways to Alzheimer's disease: lessons from genetic disorders of copper trafficking.
    Metallomics 2016 09 11;8(9):831-9. Epub 2016 Jul 11.
    The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Melbourne, Victoria 3010, Australia.
    Copper is an essential metal ion that provides catalytic function to numerous enzymes and also regulates neurotransmission and intracellular signaling. Conversely, a deficiency or excess of copper can cause chronic disease in humans. Menkes and Wilson disease are two rare heritable disorders of copper transport that are characterized by copper deficiency and copper overload, respectively. Read More

    The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria.
    J Biol Chem 2016 08 16;291(32):16644-58. Epub 2016 May 16.
    the Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97239,
    Copper-transporting ATPase ATP7A is essential for mammalian copper homeostasis. Loss of ATP7A activity is associated with fatal Menkes disease and various other pathologies. In cells, ATP7A inactivation disrupts copper transport from the cytosol into the secretory pathway. 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 2017 Feb 14;58(1):89-92. 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

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