The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Dr Sara Mole read Natural Sciences at Cambridge before a PhD in Biochemistry at Imperial College of Science and Technology London. She then undertook postdoctoral research in molecular biology then molecular genetics, always with a link to disease. She has focused on Batten disease at University College London since 1992, contributing to the identification of the first genes and then their functional biology. In 1998 she launched the Mutation Database, which was later expanded into the web site NCL Resource to additionally provide a global gateway for Batten disease. In 1998 she co-edited a monograph on Batten disease that is the forerunner to this much expanded edition.

Dr Ruth Williams studied medicine at The University of Nottingham, graduating in 1985. She trained in Paediatrics and in Paediatric Neurology before taking up her current post as a Consultant Paediatric Neurologist at the Evelina Children's Hospital in 2003. As part of her training she undertook a period of research into the genetic basis of the NCLs and obtained her doctorate in 1996. Her special interests include the diagnosis and management of childhood epilepsies and the NCLs.

Prof. Hans H. Goebel is a neuropathologist who received his specialty education in neuropathology at New York University and in the Indiana University Medical Center in Indianapolis/USA. There he applied the technique of electron microscopy to innumerable biopsied and autopsied human tissues affected by neuronal ceroid lipofuscinoses (NCL) and other lysosomal and neurodegenerative diseases. He has written numerous articles and book chapters on the neuropathology and especially the ultrastructure of the NCLs. In 1999 he edited a monograph on NCL which grew out of a Concerted Action of the European Union concerning the NCL.

Laura Åberg, Clinic for the Disabled, Rehabilitation, Health Center, Helsinki, Finland

Chiara Aiello, Molecular Medicine & Neuroscience, Neurogenetic Laboratory, IRCCS Children Hospital Bambino Gesù, Rome, Italy

Joseph Alroy, Departments of Pathology Tufts University Schools of Medicine, Cummings School of Veterinary Medicine and Tufts Medical Center, Boston, USA

Glenn W. Anderson, Histopathology Department, Great Ormond Street Hospital for Children, Great Ormond Street, London, United Kingdom

Taina Autti, Helsinki Medical Imaging Center, Helsinki University Central Hospital, Finland

Rose-Mary Boustany, Neurogenetics Program, American University of Beirut, Lebanon

Thomas Braulke, Dept. of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Natalia Cannelli, Institute of Medical Genetics, Catholic University School of Medicine, Rome, Italy

Stirling Carpenter, Institute of Molecular Pathology and Imunology of the University of Porto, Department of Anatomic Pathology, Hospital São João, Porto, Portugal

Chantal Ceuterick-de Groote, Laboratory of Ultrastructural Neuropathology, Institute Born-Bunge and University of Antwerpen (Faculty of Medicine), Antwerpen, Belgium

Michael Chang, Davidson Laboratory, University of Iowa, USA

Inés Adriana Cismondi, Oral Biology Department, Faculty of Odontology. National University, Cordoba;
CEMECO - Center for the Study of Inborn Errors of Metabolism, Children´s Hospital, Department of Clinical Pediatrics, Neonatology and Adolescents, School of Medical Sciences, National University Cordoba, Argentina

Sandra Codlin, MRC Laboratory for Molecular Cell Biology and Department of Biology, now at Department of Genetics, Evolution and Environment, University College London, UK

Jonathan D. Cooper, Department of Neuroscience, Centre for the Cellular Basis of Behaviour and MRC Centre for Neurodegeneration Research, The James Black Centre, King's College London, The Institute of Psychiatry, UK

David Cregeen, Formerly North East Thames Regional Molecular Genetics Laboratory, London, United Kingdom

Beverly L. Davidson, Davidson Laboratory, University of Iowa, USA

Otto van Diggelen, Dept. Clinical Genetics, Erasmus MC, Rotterdam, Netherlands

Cord Drögemüller, University of Berne, Institute of Genetics, Vetsuisse Faculty, Berne, Switzerland

Milan Elleder, Institute of Inherited Metabolic Disorders, Charles University of Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic

Hans H. Goebel, Department of Neuropathology, Mainz University Medical Center, Mainz, Germany

Adam A. Golabek, Department of Developmental Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, New York, USA

Rebecca L. Haines, MRC Laboratory for Molecular Cell Biology and Department of Biology, University College London, UK

Matti Haltia, Department of Pathology, Haartman Institute, University of Helsinki, Finland

Riitta Herva, Department of Pathology, Oulu University Hospital, Oulu, Finland

Anu Jalanko, Public Health Genomics, National Institute for Health and Welfare, Biomedicum Helsinki, Finland


Gary S. Johnson, Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, USA

Robert D. Jolly, Institute of Veterinary, Animal and Biomedical Sciences, Massey University, New Zealand

Martin L. Katz, University of Missouri School of Medicine, Mason Eye Institute, Missouri, USA

Sarah Kenrick, SeeAbility Heather House, Tadley, UK

Elizabeth Kida, Department of Developmental Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, NY, USA

Claudia Kitzmüller, MRC Laboratory for Molecular Cell Biology and Department of Biology, University College London, UK

Romina Kohan, CEMECO - Center for the Study of Inborn Errors of Metabolism, Children´s Hospital, Department of Clinical Pediatrics, Neonatology and Adolescents, School of Medical Sciences, National University Cordoba, Cordoba, Argentina,

Alfried Kohlschütter, Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany

Outi Kopra, National Institute for Health and Welfare, Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, Biomedicum Helsinki, Finland

Christopher A. Korey, Department of Biology, College of Charleston, South Carolina , USA

Maria Kousi. Folkhälsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Finland

Aija Kyttälä, Public Health Genomics, National Institute for Health and Welfare, Biomedicum Helsinki Helsinki, Finland

Brian D. Lake, Formerly at Department of Histopathology, Great Ormond Street Hospital for Children, Great Ormond Street, London, United Kingdom

Ulla Lahtinen, Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, Finland

Anna-Elina Lehesjoki, Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, Finland

Frode Lingaas, Section of Genetics, Norwegian School of Veterinary Science, Oslo, Norway

Peter Lobel, Center for Advanced Biotechnology and Medicine and Department of Pharmacology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Jersey, USA

Tuula Lönnqvist, Division of Child Neurology, Helsinki University Central Hospital, Finland

Annina Lyly, Public Health Genomics, National Institute for Health and Welfare, Biomedicum Helsinki Helsinki, Finland

Gisela Machado da Silva, MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London, United Kingdom

Jean-Jacques Martin, Institute Born-Bunge, Antwerpen, Belgium.

Jonathan W. Mink, Departments of Neurology, Neurobiology & Anatomy, Brain & Cognitive Sciences, and Pediatrics; University of Rochester Medical Center, NY USA

Hannah M. Mitchison, Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London, United Kingdom

Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London, United Kingdom

Liisa Myllykangas, Folkhälsan Institute of Genetics and Department of Pathology, University of Helsinki, Helsinki, Finland

Riet Niezen-de Boer, Bartiméus, Oude Arnhemsebovenweg, Doorn, The Netherlands.

Ines Noher de Halac, CEMECO - Center for the Study of Inborn Errors of Metabolism, Children´s Hospital, Department of Clinical Pediatrics, Neonatology and Adolescents, School of Medical Sciences, National University Cordoba, Argentina

Auli Nuutila, Department of Paediatrics; Central Hospital of Seinäjoki; Finland

David N. Palmer, Faculty of Agriculture and Life Sciences, Lincoln University, New Zealand

Sanna Partanen, Formerly at Institute of Biomedicine/Biochemistry, University of Helsinki, Finland, Folkhälsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki, Finland

Leena Peltonen (deceased), National Institute for Health and Welfare, Biomedicum Helsinki, Finland

Rolf Pfannl, Department of Pathology, Tufts Medical Center, Tufts University School of Medicine, Boston, USA

Maria-Liisa Punkari, NCL Consultant, Finnish Federation of the Visually Impaired, Finland

Arne Quitsch, Dept. of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Juhani Rapola, Department of Pathology, Haartman Institute, University of Helsinki and Helsinki University Central Hospital, Finland

Maria Gil Ribeiro, Universidade Fernando Pessoa, Faculdade das Ciências da Saúde, Porto, Portugal

Claire Russell, Department of Veterinary Basic Sciences, Royal Veterinary College, London, United Kingdom

Filippo M. Santorelli, Molecular Medicine & Neuroscience, Neurogenetic Laboratory, IRCCS Children Hospital Bambino Gesù, Rome, Italy

Angela Schulz, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Alessandro Simonati, University of Verona Medical School, Department of Neurological and Visual Sciences-Neurology, Child Neurology and Psychiatry Unit. Policlinico GB Rossi, Verona, Italy

Eija Siintola, Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, Biomedicum Helsinki, Finland

David E. Sleat, Center for Advanced Biotechnology and Medicine and Department of Pharmacology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Jersey, USA

Robert Steinfeld, Department of Pediatrics and Pediatric Neurology, University of Göttingen, Germany

Petter Strömme, Department of Pediatrics, Oslo University Hospital and Faculty of Medicine, University of Oslo, Norway

Maria L.Talling, Department of Child Neurology and Department of Radiology. Helsinki University Central Hospital, Finland

Imke Tammen, ReproGen, Faculty of Veterinary Science, University of Sydney, Australia

Peter E.M. Taschner, Department of Human Genetics S-4-P, Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands,

Meral Topçu, Hacettepe Medical Faculty, Children's Hospital, Department of Pediatrics, Section of Child Neurology, Ankara, Turkey

Richard Tuxworth, MRC Centre for Developmental Neurobiology, New Hunt's House, Guy's Hospital Campus, King's College London, United Kingdom

Jaana Tyynelä, Institute of Biomedicine, University of Helsinki, Biomedicum Helsinki, Finland

Sanna-Leena Vanhanen, Hyvinkää Hospital, Finland

Gert de Voer, Formerly at Department of Human Genetics S-4-P, Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands.

Michael J. Warburton, Section of Cellular Pathology, Department of Cellular and Molecular Medicine, St George's University of London, London, United Kingdom

Ruth E. Williams, Department of Paediatric Neurology, SKY, Evelina Childrens Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom

Krystyna E. Wisniewski (deceased), Department of Developmental Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, NY, USA

"Although this is a rare syndrome with a clear genetic basis, this book captures its complexity on so many levels (genetic, biological, medical, psychosocial) in truly understanding a "simple" diagnosis of epilepsy. The editors and authors have performed a laudable feat in organizing and making accessible information on this very complicated topic, particularly given the continued flow of new scientific information." -- Doody's