An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies

Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter

(2019) Stephanie Dooves et al.   Stem Cell Reports

Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients

(2019) Zahra Rezaei et al.   NEUROPEDIATRICS

Microglia damage precedes major myelin breakdown in X-linked adrenoleukodystrophy and metachromatic leukodystrophy

(2019) Caroline G. Bergner et al.   GLIA

Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum

(2019) Reyhaneh Kameli et al.   European Journal of Medical Genetics

Diagnosis, prognosis, and treatment of leukodystrophies

(2019) Marjo S van der Knaap et al.   LANCET NEUROLOGY

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

(2019) Reyhaneh Kameli et al.   Orphanet Journal of Rare Diseases

Search-and-replace genome editing without double-strand breaks or donor DNA

(2019) Andrew V. Anzalone et al.   NATURE

Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease

(2018) Tracy L. Hagemann et al.   ANNALS OF NEUROLOGY

The natural history of Vanishing White Matter

(2018) Eline M.C. Hamilton et al.   ANNALS OF NEUROLOGY

Genetic defects disrupting glial ion and water homeostasis in the brain

(2018) Rogier Min et al.   BRAIN PATHOLOGY

Leukodystrophies due to astroyctic dysfunction

(2018) Marianna Bugiani et al.   BRAIN PATHOLOGY

Gallbladder Polyps in Metachromatic Leukodystrophy

(2018) Saeeda Almarzooqi et al.   Fetal and Pediatric Pathology

Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report

(2018) Negin Rezaei et al.   Iranian Journal of Pediatrics

The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System

(2018) Mahmoud Reza Ashrafi et al.   JOURNAL OF CHILD NEUROLOGY

Diffusion tensor imaging in metachromatic leukodystrophy

(2018) Diane F. van Rappard et al.   JOURNAL OF NEUROLOGY

Adulthood leukodystrophies

(2018) Wolfgang Köhler et al.   Nature Reviews Neurology

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

(2018) Amytice Mirchi et al.   PEDIATRIC NEUROLOGY

The Next Phase of Human Gene-Therapy Oversight

(2018) Francis S. Collins et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

(2017) Dustin Baldridge et al.   GENETICS IN MEDICINE

Oligodendroglia: metabolic supporters of neurons

(2017) Thomas Philips et al.   JOURNAL OF CLINICAL INVESTIGATION

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

(2017) Laura A. Adang et al.   MOLECULAR GENETICS AND METABOLISM

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

(2017) Thais Armangue et al.   MOLECULAR GENETICS AND METABOLISM

Stem cell transplantation in Krabbe disease

(2017) William D. Graf   NEUROLOGY

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

(2017) Florian Eichler et al.   NEW ENGLAND JOURNAL OF MEDICINE

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss—Another Mendelian Mimicker of Congenital Cytomegalovirus Infection

(2017) Nicole Ulrick et al.   PEDIATRIC NEUROLOGY

The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease

(2017) Alexander A. Sosunov et al.   Acta Neuropathologica Communications

Cockayne syndrome: a diffusion tensor imaging and volumetric study

(2016) Mériam Koob et al.   BRITISH JOURNAL OF RADIOLOGY

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology

(2016) A. Charzewska et al.   CLINICAL GENETICS

Energy Remodeling, Mitochondrial Disorder and Heart Failure

(2016) Peng Wang et al.   CURRENT PHARMACEUTICAL DESIGN

Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study

(2016) Lesley A Stellitano et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Histopathological comparison of Kearns-Sayre syndrome and PGC-1α-deficient mice suggests a novel concept for vacuole formation in mitochondrial encephalopathy

(2016) Levente Szalardy et al.   FOLIA NEUROPATHOLOGICA

Astrocytes are central in the pathomechanisms of vanishing white matter

(2016) Stephanie Dooves et al.   JOURNAL OF CLINICAL INVESTIGATION

Stem cell therapy for white matter disorders: don’t forget the microenvironment!

(2016) Stephanie Dooves et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

(2016) Maria Sessa et al.   LANCET

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

(2016) Sietske Kevelam et al.   NEUROPEDIATRICS

Novel pathologic findings in patients with Pelizaeus-Merzbacher disease

(2016) Jeremy J. Laukka et al.   NEUROSCIENCE LETTERS

Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know

(2016) Roberta Reichert et al.   RADIOGRAPHICS

Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

(2015) Yanick J. Crow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Consensus statement on preventive and symptomatic care of leukodystrophy patients

(2015) Keith Van Haren et al.   MOLECULAR GENETICS AND METABOLISM

Disease specific therapies in leukodystrophies and leukoencephalopathies

(2015) Guy Helman et al.   MOLECULAR GENETICS AND METABOLISM

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

(2015) Sumit Parikh et al.   MOLECULAR GENETICS AND METABOLISM

Case definition and classification of leukodystrophies and leukoencephalopathies

(2015) Adeline Vanderver et al.   MOLECULAR GENETICS AND METABOLISM

Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy

(2015) Jonas Doerr et al.   MOLECULAR THERAPY

Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report

(2015) Alexander A. Boucher et al.   Orphanet Journal of Rare Diseases

Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy

(2015) C. Long et al.   SCIENCE

Oligodendrocytes: Myelination and Axonal Support

(2015) Mikael Simons et al.   Cold Spring Harbor Perspectives in Biology

Hypomyelinating leukodystrophies: Translational research progress and prospects

(2014) Petra J. W. Pouwels et al.   ANNALS OF NEUROLOGY

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

(2014) Eline M. Hamilton et al.   BRAIN

CADASIL and CARASIL

(2014) Saara Tikka et al.   BRAIN PATHOLOGY

GJB1-associated X-linked Charcot–Marie–Tooth disease, a disorder affecting the central and peripheral nervous systems

(2014) Charles K. Abrams et al.   CELL AND TISSUE RESEARCH

Early-Onset Aicardi-Goutières Syndrome

(2014) Adeline Vanderver et al.   JOURNAL OF CHILD NEUROLOGY

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study

(2014) Björn M. van Geel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies

(2014) Yurika Numata et al.   JOURNAL OF NEUROLOGY

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

(2014) Roberto Erro et al.   MOVEMENT DISORDERS

Pelizaeus-Merzbacher disease: Cellular pathogenesis and pharmacologic therapy

(2014) Tomohiro Torii et al.   PEDIATRICS INTERNATIONAL

An Imaging Approach to Diffuse White Matter Changes

(2014) Nilesh K. Desai et al.   RADIOLOGIC CLINICS OF NORTH AMERICA

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

Direct induction of ramified microglia-like cells from human monocytes: Dynamic microglial dysfunction in Nasu-Hakola disease

(2014) Masahiro Ohgidani et al.   Scientific Reports

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

(2014) Federica Invernizzi et al.   Frontiers in Genetics

Chronic exposure of astrocytes to interferon-α reveals molecular changes related to Aicardi–Goutières syndrome

(2013) Eloy Cuadrado et al.   BRAIN

Intrinsic and extrinsic control of oligodendrocyte development

(2013) J Bradley Zuchero et al.   CURRENT OPINION IN NEUROBIOLOGY

Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradation

(2013) Saleemulla Mahammad et al.   JOURNAL OF CLINICAL INVESTIGATION

Gene therapy clinical trials worldwide to 2012 - an update

(2013) Samantha L. Ginn et al.   JOURNAL OF GENE MEDICINE

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

(2013) Marijke De Bock et al.   Frontiers in Pharmacology

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

(2012) Fanny Mochel et al.   ANNALS OF NEUROLOGY

Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort

(2012) I Krägeloh-Mann et al.   BONE MARROW TRANSPLANTATION

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Clinico-radiological spectrum of bilateral temporal lobe hyperintensity: a retrospective review

(2012) J Sureka et al.   BRITISH JOURNAL OF RADIOLOGY

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit

(2012) Elena Jeworutzki et al.   NEURON

Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein

(2012) Elisabetta Gazzerro et al.   PLoS One

Human Neural Stem Cells Induce Functional Myelination in Mice with Severe Dysmyelination

(2012) N. Uchida et al.   Science Translational Medicine

Long-Term Follow-Up After Gene Therapy for Canavan Disease

(2012) P. Leone et al.   Science Translational Medicine

Relative Incidence of Inherited White Matter Disorders in Childhood to Acquired Pediatric Demyelinating Disorders

(2012) Adeline Vanderver et al.   Seminars in Pediatric Neurology

Exome sequencing and the genetics of intellectual disability

(2011) S Topper et al.   CLINICAL GENETICS

Childhood leukodystrophies: a clinical perspective

(2011) Alfried Kohlschütter et al.   Expert Review of Neurotherapeutics

Focal Central White Matter Lesions in Alexander Disease

(2011) Pauline Barreau et al.   JOURNAL OF CHILD NEUROLOGY

Clinical Epidemiologic Characterization of Orthopaedic and Neurological Manifestations in Children With Leukodystrophies

(2011) Larry Holmes et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

(2011) Rosa Rademakers et al.   NATURE GENETICS

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

(2011) Jens Schuster et al.   NEUROGENETICS

GFAP mutations, age at onset, and clinical subtypes in Alexander disease

(2011) M. Prust et al.   NEUROLOGY

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

(2010) Marjan E. Steenweg et al.   BRAIN

Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis

(2010) Inderjit Singh et al.   BRAIN PATHOLOGY

Connatal Pelizaeus-Merzbacher Disease

(2010) Charles-A. Haenggeli et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges

(2010) Leonardo Pantoni   LANCET NEUROLOGY

Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease

(2010) M. Henneke et al.   NEUROLOGY

The burden of inherited leukodystrophies in children

(2010) J. L. Bonkowsky et al.   NEUROLOGY

Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment

(2009) Norio Sakai   BRAIN & DEVELOPMENT

Aicardi-Goutieres syndrome

(2009) S. Orcesi et al.   BRITISH MEDICAL BULLETIN

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

(2009) R. Schiffmann et al.   NEUROLOGY

AGC1 Deficiency and Cerebral Hypomyelination

(2009)   NEW ENGLAND JOURNAL OF MEDICINE

Newborn Screening for Krabbe Disease: the New York State Model

(2009) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

(2008) Daniella Magen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Debris clearance by microglia: an essential link between degeneration and regeneration

(2008) H. Neumann et al.   BRAIN

Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations

(2008) Stefanie H. Freeman et al.   BRAIN PATHOLOGY

Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy

(2008) E. Haberlandt et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A small deep infarct revealing leukoencephalopathy, calcifications and cysts in an adult patient

(2008) I Wargon et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS

(2008) B. M. Keegan et al.   NEUROLOGY

Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia

(2008) Tatsuo Kono et al.   PEDIATRIC RADIOLOGY