Adulthood leukodystrophies

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

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

Optimizing Treatment for Cerebral Adrenoleukodystrophy in the Era of Gene Therapy

(2017) Marc Engelen   NEW ENGLAND JOURNAL OF MEDICINE

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

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

Whole exome sequencing in patients with white matter abnormalities

(2016) Adeline Vanderver et al.   ANNALS OF NEUROLOGY

CSF1Rmosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids

(2016) Florian S. Eichler et al.   BRAIN

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

Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history

(2016) Stephan Kemp et al.   Nature Reviews Endocrinology

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy

(2016) Diane F. van Rappard et al.   NEUROLOGY

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

(2016) Sietske Kevelam et al.   NEUROPEDIATRICS

Targeting demyelination and virtual hypoxia with high-dose biotin as a treatment for progressive multiple sclerosis

(2016) Frédéric Sedel et al.   NEUROPHARMACOLOGY

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients

(2016) Samuel Groeschel et al.   JAMA Neurology

Fragile X-associated tremor/ataxia syndrome

(2015) Paul J. Hagerman et al.   Annals of the New York Academy of Sciences

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment

(2015) Diane F. van Rappard et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

History, genetic, and recent advances on Krabbe disease

(2015) Adriana Carol Eleonora Graziano et al.   GENE

Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy

(2015) Martina Cesani et al.   HUMAN MUTATION

Frequent misdiagnosis of adult polyglucosan body disease

(2015) Mark A. Hellmann et al.   JOURNAL OF NEUROLOGY

Wilson's disease and other neurological copper disorders

(2015) Oliver Bandmann et al.   LANCET NEUROLOGY

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

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

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

(2015) Line Borgwardt et al.   Orphanet Journal of Rare Diseases

Genetics of Cerebral Small Vessel Disease

(2015) Jay Chol Choi   Journal of Stroke

Hypomyelinating leukodystrophies: Translational research progress and prospects

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

Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients

(2014) Xavier Ayrignac et al.   BRAIN

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

(2014) L. van Berge et al.   BRAIN

Neuropathology and Genetics of Cerebroretinal Vasculopathies

(2014) Grant R. Kolar et al.   BRAIN PATHOLOGY

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis

(2014) C. Sundal et al.   EUROPEAN JOURNAL OF 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

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

(2014) N. I. Wolf et al.   NEUROLOGY

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

(2014) Shuke Nie et al.   Orphanet Journal of Rare Diseases

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

(2014) Matthias R Baumgartner et al.   Orphanet Journal of Rare Diseases

Severe Methylenetetrahydrofolate Reductase Deficiency

(2014) Alexander Lossos et al.   JAMA Neurology

Pathophysiology of X-linked adrenoleukodystrophy

(2013) J. Berger et al.   BIOCHIMIE

Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy

(2013) Laia Morató et al.   BRAIN

A practical approach to diagnosing adult onset leukodystrophies

(2013) R. M. Ahmed et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

(2013) Christel Depienne et al.   LANCET NEUROLOGY

Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

(2013) Christiane Theda et al.   MOLECULAR GENETICS AND METABOLISM

Movement Disorders in Adult Patients With Classical Galactosemia

(2013) Ignacio Rubio-Agusti et al.   MOVEMENT DISORDERS

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

(2013) Christina Sundal et al.   PARKINSONISM & RELATED DISORDERS

Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?

(2013) Tobias Böttcher et al.   PLoS One

Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy

(2013) Martje E. van Egmond et al.   JAMA Neurology

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

(2012) Fanny Mochel et al.   ANNALS OF NEUROLOGY

Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age

(2012) F. Matthes et al.   HUMAN MOLECULAR GENETICS

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

(2012) Elena Jeworutzki et al.   NEURON

Leukoencephalopathies Associated with Disorders of Cobalamin and Folate Metabolism

(2012) Bridget Wilcken   SEMINARS IN NEUROLOGY

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

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

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

(2011) Tania López-Hernández et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic criteria for multiple sclerosis: 2010 Revisions to the McDonald criteria

(2011) Chris H. Polman et al.   ANNALS OF NEUROLOGY

Childhood leukodystrophies: a clinical perspective

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

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

L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia

(2011) C. Marcel et al.   REVUE NEUROLOGIQUE

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

(2010) Marjan E. Steenweg et al.   BRAIN

The clinical spectrum of late-onset Alexander disease: a systematic literature review

(2010) Pietro Balbi et al.   JOURNAL OF NEUROLOGY

Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways

(2010) Charles R. Roe et al.   MOLECULAR GENETICS AND METABOLISM

The burden of inherited leukodystrophies in children

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

Cerebral White Matter

(2009) Jeremy D. Schmahmann et al.   Annals of the New York Academy of Sciences

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases

(2009) P. Labauge et al.   BRAIN

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult

(2009) S. Reimão et al.   JOURNAL OF INHERITED METABOLIC DISEASE

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method

(2009) Walter C. Hubbard et al.   MOLECULAR GENETICS AND METABOLISM

A revisit to the natural history of homocystinuria due to cystathionine β-synthase deficiency

(2009) Flemming Skovby et al.   MOLECULAR GENETICS AND METABOLISM

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

(2009) R. Schiffmann et al.   NEUROLOGY

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Therapy of X-linked adrenoleukodystrophy

(2008) Alexander Semmler et al.   Expert Review of Neurotherapeutics

MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients

(2008) Xiao-Qi Ding et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING