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1. Full Text A Diagnostic Approach for Cerebral Palsy in the Genomic Era
by Lee, Ryan W and Poretti, Andrea and Cohen, Julie S and Levey, Eric and Gwynn, Hilary and Johnston, Michael V and Hoon, Alexander H and Fatemi, Ali
NeuroMolecular Medicine, ISSN 1535-1084, 12/2014, Volume 16, Issue 4, pp. 821 - 844
An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which... 
Neurology | Cerebral palsy | Neurosciences | Biomedicine | Masqueraders | Internal Medicine | Spastic, dyskinetic, and ataxic phenotypes | Neurogenetic | RISK-FACTORS | PRETERM INFANTS | NEUROSCIENCES | COENZYME-Q10 DEFICIENCY | CEREBELLAR-ATAXIA | INTRAVENTRICULAR HEMORRHAGE | ACIDURIA TYPE-I | GLUTARIC ACIDURIA | GLOBUS-PALLIDUS INTERNUS | PELIZAEUS-MERZBACHER DISEASE | DEEP BRAIN-STIMULATION | Brain - embryology | Leukoencephalopathies - genetics | Genomics | Humans | Movement Disorders - diagnosis | Child, Preschool | Male | Nervous System Diseases - diagnosis | Stroke - congenital | Exome | Asphyxia Neonatorum - genetics | Brain Diseases, Metabolic - diagnosis | Cerebral Palsy - diagnosis | Leukoencephalopathies - diagnosis | Chromosome Disorders - diagnosis | Child | Hypoxia, Brain - diagnosis | Infant, Newborn | Brain Diseases, Metabolic - genetics | Neurotransmitter Agents - metabolism | Lysosomal Storage Diseases, Nervous System - genetics | Movement Disorders - genetics | Muscle Spasticity - genetics | Cerebral Palsy - genetics | Hypoxia, Brain - genetics | Cell Movement | Tissue Array Analysis | Stroke - diagnosis | Genetic Diseases, Inborn - genetics | Developmental Disabilities - genetics | Nervous System Diseases - genetics | Molecular Diagnostic Techniques | Diagnostic Errors | Asphyxia Neonatorum - diagnosis | Adult | Female | Birth Injuries - genetics | Developmental Disabilities - diagnosis | Genetic Diseases, Inborn - diagnosis | Globus Pallidus - pathology | Lysosomal Storage Diseases, Nervous System - diagnosis | Mitochondrial Diseases - genetics | Diagnosis, Differential | Genome-Wide Association Study | Leukoencephalopathies - metabolism | Birth Injuries - diagnosis | Muscle Spasticity - diagnosis | Chromosome Disorders - genetics | Mitochondrial Diseases - diagnosis | Medical colleges | Molecular genetics | Children's hospitals | Development and progression | Diagnostic imaging | Diagnosis | masqueraders | dyskinetic and ataxic phenotypes | neurogenetic | spastic
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2. Full Text Diagnosing and attributing neuropsychiatric events to systemic lupus erythematosus: time to untie the Gordian knot?
by Tay, Sen Hee and Tay, Sen Hee and Mak, Anselm and Mak, Anselm
Rheumatology (United Kingdom), ISSN 1462-0324, 04/2017, Volume 56, Issue 1, pp. i14 - i23
Neurological and psychiatric syndromes, collectively referred to as NPSLE, occur frequently in SLE. The frequency of NPSLE varies from 21 to 95%; however, only... 
neuropsychiatric systemic lupus erythematosus | diagnosis | attribution model | DEVICS-SYNDROME | INCEPTION COHORT | ANTIPHOSPHOLIPID ANTIBODIES | REVERSIBLE ENCEPHALOPATHY SYNDROME | RHEUMATOLOGY | INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY | COGNITIVE DYSFUNCTION | NEUROMYELITIS-OPTICA | MONONEURITIS MULTIPLEX | OF-THE-LITERATURE | CLASSIFICATION CRITERIA | Spinal Cord Diseases - diagnosis | Lupus Erythematosus, Systemic - complications | Mood Disorders - psychology | Meningitis, Aseptic - physiopathology | Spinal Cord Diseases - physiopathology | Humans | Meningitis, Aseptic - etiology | Anxiety Disorders - diagnosis | Mononeuropathies - physiopathology | Epilepsy - physiopathology | Epilepsy - etiology | Lupus Vasculitis, Central Nervous System - psychology | Mood Disorders - etiology | Psychotic Disorders - physiopathology | Polyneuropathies - diagnosis | Cognitive Dysfunction - psychology | Cognitive Dysfunction - diagnosis | Cranial Nerve Diseases - physiopathology | Neuromyelitis Optica - diagnosis | Cerebrovascular Disorders - physiopathology | Psychotic Disorders - diagnosis | Diagnosis, Differential | Lupus Erythematosus, Systemic - psychology | Lupus Vasculitis, Central Nervous System - diagnosis | Psychotic Disorders - psychology | Lupus Vasculitis, Central Nervous System - etiology | Mononeuropathies - diagnosis | Polyneuropathies - physiopathology | Cognitive Dysfunction - etiology | Cognitive Dysfunction - physiopathology | Anxiety Disorders - etiology | Anxiety Disorders - psychology | Cerebrovascular Disorders - etiology | Cranial Nerve Diseases - diagnosis | Epilepsy - diagnosis | Mononeuropathies - etiology | Posterior Leukoencephalopathy Syndrome - diagnosis | Lupus Vasculitis, Central Nervous System - physiopathology | Cranial Nerve Diseases - etiology | Cerebrovascular Disorders - diagnosis | Spinal Cord Diseases - etiology | Polyneuropathies - etiology | Meningitis, Aseptic - diagnosis | Mood Disorders - diagnosis | Lupus Erythematosus, Systemic - physiopathology | Mood Disorders - physiopathology | Anxiety Disorders - physiopathology | Psychotic Disorders - etiology
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3. Full Text Cerebrospinal Fluid JC Virus Antibody Index for Diagnosis of Natalizumab-Associated Progressive Multifocal Leukoencephalopathy
by Warnke, C and von Geldern, G and Markwerth, P and Dehmel, T and Hoepner, R and Gold, R and Pawlita, M and Kumpfel, T and Maurer, M and Stangel, M and Wegner, F and Hohlfeld, R and Straeten, V and Limmroth, V and Weber, T and Hermsen, D and Kleinschnitz, C and Hartung, H.P and Wattjes, M.P and Svenningson, A and Major, E and Olsson, T and Kieseier, B.C and Adams, O and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Klinisk neurovetenskap and Umeå universitet
Annals of Neurology, ISSN 0364-5134, 2014, Volume 76, Issue 6, pp. 792 - 801
Objective: Progressive multifocal leukoencephalopathy (PML), caused by JC virus (JCV), can occur in patients receiving natalizumab for multiple sclerosis (MS).... 
IMMUNE-RESPONSE | CELLS | ASSAY | MULTIPLE-SCLEROSIS | RECONSTITUTION INFLAMMATORY SYNDROME | DNA | URINE | PATIENT | NEUROSCIENCES | MS PATIENTS | PML | CLINICAL NEUROLOGY | Antibodies, Monoclonal, Humanized - adverse effects | Natalizumab | Multiple Sclerosis - cerebrospinal fluid | Humans | Middle Aged | JC Virus - metabolism | Male | Leukoencephalopathy, Progressive Multifocal - diagnosis | DNA, Viral - cerebrospinal fluid | Young Adult | Leukoencephalopathy, Progressive Multifocal - chemically induced | Adult | Female | Biomarkers - cerebrospinal fluid | Leukoencephalopathy, Progressive Multifocal - cerebrospinal fluid | Antibodies, Viral - cerebrospinal fluid | Multiple Sclerosis - drug therapy | Drug therapy | Medical research | Deoxyribonucleic acid--DNA | Basic Medicine | Clinical Medicine | Neurology | Neurologi | Neurosciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Klinisk medicin | Neurovetenskaper
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4. Full Text Punctate pattern: A promising imaging marker for the diagnosis of natalizumab-associated PML
by Hodel, Jérôme and Darchis, Christine and Outteryck, Olivier and Verclytte, Sébastien and Deramecourt, Vincent and Lacour, Arnaud and Zins, Marc and Pruvo, Jean-Pierre and Vermersch, Patrick and Leclerc, Xavier
Neurology, ISSN 0028-3878, 04/2016, Volume 86, Issue 16, pp. 1516 - 1523
OBJECTIVE:To evaluate the usefulness of the punctate pattern (PP) for the diagnosis and follow-up of patients with progressive multifocal leukoencephalopathy... 
JC VIRUS-INFECTION | IRIS | PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY | MULTIPLE-SCLEROSIS | INFLAMMATION | SPIN-ECHO | LESIONS | SECTION | CLINICAL NEUROLOGY | Leukoencephalopathy, Progressive Multifocal - therapy | Brain - diagnostic imaging | Humans | Middle Aged | Natalizumab - adverse effects | Magnetic Resonance Imaging - methods | Male | JC Virus | Natalizumab - therapeutic use | Sensitivity and Specificity | Adult | Female | Retrospective Studies | Severity of Illness Index | Multiple Sclerosis, Relapsing-Remitting - drug therapy | DNA, Viral - cerebrospinal fluid | Brain - drug effects | Aftercare | Multiple Sclerosis, Relapsing-Remitting - diagnostic imaging | Leukoencephalopathy, Progressive Multifocal - etiology | Aged | Immunologic Factors - adverse effects | Leukoencephalopathy, Progressive Multifocal - diagnostic imaging | Leukoencephalopathy, Progressive Multifocal - cerebrospinal fluid | Multiple Sclerosis, Relapsing-Remitting - cerebrospinal fluid | Observer Variation | Cohort Studies | Immunologic Factors - therapeutic use
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5. Full Text Diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids based on next-generation sequencing in a family Case report and literature review
by Shi, TJ and Li, J and Tan, C and Chen, JJ
MEDICINE, ISSN 0025-7974, 05/2019, Volume 98, Issue 22, p. e15802
Rationale: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a rare disease with white matter lesions of the central nervous system,... 
genetic family trees | hereditary diffuse leukoencephalopathy | MEDICINE, GENERAL & INTERNAL | HDLS | MUTATIONS | new mutation site | Case studies | Genetic disorders | Nervous system | Genetic aspects | Degeneration | Diagnosis | Leukoencephalopathy
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6. Full Text Diagnosis, prognosis, and treatment of leukodystrophies
by van der Knaap, Marjo S and Schiffmann, Raphael and Mochel, Fanny and Wolf, Nicole I
The Lancet Neurology, ISSN 1474-4422, 10/2019, Volume 18, Issue 10, pp. 962 - 972
Leukodystrophies comprise a large group of rare genetic disorders primarily affecting CNS white matter. Historically, the diagnostic process was slow and... 
CORD BLOOD TRANSPLANTATION | HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY | MOUSE MODEL | METACHROMATIC LEUKODYSTROPHY | BRAIN-STEM | OPEN-LABEL | MUTATIONS | X-LINKED ADRENOLEUKODYSTROPHY | STEM-CELL TRANSPLANTATION | GENETIC-CHARACTERIZATION | CLINICAL NEUROLOGY | Medicine, Experimental | Medical research | Neurosciences | Diagnostic imaging | Research institutes | Pediatric neurology | Prognosis | Disease | Phenotypic variations | Substantia alba | Metabolism | Drug development | Defects | Literature reviews | Magnetic resonance imaging | Stem cells | Clinical medicine | Mutation | Diagnosis | Gene therapy
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7. Full Text iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL
by Hallek, Michael and Cheson, Bruce D and Catovsky, Daniel and Caligaris-Cappio, Federico and Dighiero, Guillermo and Döhner, Hartmut and Hillmen, Peter and Keating, Michael and Montserrat, Emili and Chiorazzi, Nicholas and Stilgenbauer, Stephan and Rai, Kanti R and Byrd, John C and Eichhorst, Barbara and O’Brien, Susan and Robak, Tadeusz and Seymour, John F and Kipps, Thomas J
Blood, ISSN 0006-4971, 06/2018, Volume 131, Issue 25, pp. 2745 - 2760
The previous edition of the consensus guidelines of the International Workshop on Chronic Lymphocytic Leukemia (iwCLL), published in 2008, has found broad... 
PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY | INTERNATIONAL PROGNOSTIC INDEX | MULTIVARIATE SURVIVAL ANALYSIS | CHRONIC LYMPHOCYTIC-LEUKEMIA | SPONSORED-WORKING-GROUP | QUALITY-OF-LIFE | STEM-CELL TRANSPLANTATION | HEMATOLOGY | MINIMAL RESIDUAL DISEASE | TUMOR LYSIS SYNDROME | PREVIOUSLY UNTREATED PATIENTS
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8. Full Text Blood–brain barrier breakdown in reversible cerebral vasoconstriction syndrome: Implications for pathophysiology and diagnosis
by Lee, Mi Ji and Cha, Jihoon and Choi, Hyun Ah and Woo, Sook‐Young and Kim, Seonwoo and Wang, Shuu‐Jiun and Chung, Chin‐Sang
Annals of Neurology, ISSN 0364-5134, 03/2017, Volume 81, Issue 3, pp. 454 - 466
Objective Diagnosis of reversible cerebral vasoconstriction syndrome (RCVS) is currently based on luminographic findings of vasoconstriction. In addition to... 
STROKE | GADOLINIUM | DISRUPTION | MRI | MARKER | ASYMPTOMATIC INTRACRANIAL ATHEROSCLEROSIS | RESOLUTION | THUNDERCLAP HEADACHE | PREVALENCE | NEUROSCIENCES | CLINICAL NEUROLOGY | FEATURES | Cerebral Arterial Diseases - cerebrospinal fluid | Headache Disorders, Primary - physiopathology | Comorbidity | Headache Disorders, Primary - epidemiology | Humans | Middle Aged | Posterior Leukoencephalopathy Syndrome - epidemiology | Posterior Leukoencephalopathy Syndrome - physiopathology | Male | Headache Disorders, Primary - diagnostic imaging | Headache Disorders, Primary - cerebrospinal fluid | Vasoconstriction - physiology | Blood-Brain Barrier - diagnostic imaging | Posterior Leukoencephalopathy Syndrome - cerebrospinal fluid | Cerebral Arterial Diseases - epidemiology | Cerebral Arterial Diseases - physiopathology | Adult | Female | Posterior Leukoencephalopathy Syndrome - diagnostic imaging | Cerebral Arterial Diseases - diagnostic imaging | Blood-brain barrier | Headaches | Hemorrhage
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9. Full Text MRI and the diagnosis of multiple sclerosis: expanding the concept of "no better explanation"
by Charil, Arnaud and Yousry, Tarek A and Rovaris, Marco and Barkhof, Frederik and De Stefano, Nicola and Fazekas, Franz and Miller, David H and Montalban, Xavier and Simon, Jack H and Polman, Chris and Filippi, Massimo
Lancet Neurology, ISSN 1474-4422, 10/2006, Volume 5, Issue 10, pp. 841 - 852
Although the diagnosis of multiple sclerosis relies on the demonstration of disease dissemination in space and time, the exclusion of other neurological... 
PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY | ACUTE DISSEMINATED ENCEPHALOMYELITIS | NEURO-BEHCETS-DISEASE | IMMUNE-MEDIATED DISEASES | CENTRAL-NERVOUS-SYSTEM | AUTOSOMAL-DOMINANT ARTERIOPATHY | DEVICS-NEUROMYELITIS-OPTICA | CLINICALLY ISOLATED SYNDROMES | SPINAL-CORD MRI | CLINICAL NEUROLOGY | ACUTE TRANSVERSE MYELITIS | Inflammation - pathology | Multiple Sclerosis - diagnosis | Brain Diseases - diagnosis | Humans | Hypoxia, Brain - pathology | Magnetic Resonance Imaging | Demyelinating Diseases - diagnosis | Brain Diseases - pathology | Cerebrovascular Disorders - diagnosis | Infection - pathology | Infection - diagnosis | Brain Ischemia - pathology | Brain Ischemia - diagnosis | Multiple Sclerosis - pathology | Inflammation - diagnosis | Demyelinating Diseases - pathology | Cerebrovascular Disorders - pathology | Hypoxia, Brain - diagnosis | Multiple sclerosis | Diagnosis | Magnetic resonance imaging | Antitank weapons
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10. Full Text The diagnosis of posterior reversible encephalopathy syndrome – Authors' reply
by Fugate, Jennifer E and Rabinstein, Alejandro A
Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 11, pp. 1075 - 1075
Neurology | Radiography | Posterior Leukoencephalopathy Syndrome - physiopathology | Posterior Leukoencephalopathy Syndrome - diagnostic imaging | Brain - diagnostic imaging | Brain - physiopathology | Humans | Index Medicus
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11. Full Text Cerebroretinal microangiopathy with calcifications and cysts A case report
by Xu, WR and Zhao, JL and Zhu, YC and Zhang, WH
MEDICINE, ISSN 0025-7974, 01/2017, Volume 96, Issue 1, p. e5545
Rational: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in... 
inherited diseases | CTC1 | cerebral calcification | cerebroretinal microangiopathy with calcifications and cysts | COMPONENT 1 | MEDICINE, GENERAL & INTERNAL | DISEASE | leukoencephalopathy | DISORDER | case report | MUTATIONS | Calcinosis - genetics | Aftercare - methods | Retinal Diseases - genetics | Brain - diagnostic imaging | Calcinosis - diagnosis | Leukoencephalopathies - genetics | Central Nervous System Cysts - physiopathology | Seizures - genetics | Humans | Brain Neoplasms - physiopathology | Retinal Diseases - therapy | Leukoencephalopathies - physiopathology | Proton Magnetic Resonance Spectroscopy - methods | Muscle Spasticity - therapy | Seizures - physiopathology | Telomere-Binding Proteins - genetics | Leukoencephalopathies - diagnosis | Adult | Central Nervous System Cysts - diagnosis | Female | Ataxia - genetics | Central Nervous System Cysts - therapy | Neuroimaging - methods | Ataxia - physiopathology | Ataxia - therapy | Diagnosis, Differential | Retinal Diseases - diagnosis | Brain Neoplasms - diagnosis | Brain Neoplasms - genetics | Seizures - diagnosis | Seizures - therapy | Ataxia - diagnosis | Disease Progression | Central Nervous System Cysts - genetics | Calcinosis - therapy | Brain Neoplasms - therapy | Brain - pathology | Muscle Spasticity - diagnosis | Leukoencephalopathies - therapy | Disease Management | Muscle Spasticity - physiopathology | Mutation | Retinal Diseases - physiopathology | Muscle Spasticity - genetics | Calcinosis - physiopathology | Care and treatment | Usage | Vasculitis | Diagnosis | Cysts | Lasers in surgery
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12. Full Text Invited Article: An MRI-based approach to the diagnosis of white matter disorders
by Schiffmann, R and Knaap, van der, M.S
Neurology, ISSN 0028-3878, 2009, Volume 72, Issue 8, pp. 750 - 759
Background: There are many different white matter disorders, both inherited and acquired, and consequently the diagnostic process is difficult. Establishing a... 
LEUKOENCEPHALOPATHY | HYPOMYELINATION | ABNORMALITIES | BASAL GANGLIA | ALEXANDER-DISEASE | COCKAYNE-SYNDROME | MEMBRANE-PROTEIN | BRAIN-STEM | CLINICAL NEUROLOGY | NEURONAL CEROID-LIPOFUSCINOSIS | SPINAL-CORD INVOLVEMENT | Magnetic Resonance Imaging | Demyelinating Diseases - diagnosis | Diagnosis, Differential | Algorithms | Brain Diseases - diagnosis | Humans | Cerebral Cortex - pathology | Brain - pathology | Decision Trees | Special
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13. Full Text Leukodystrophies: Classification, Diagnosis, and Treatment
by Costello, Daniel J and Eichler, April F and Eichler, Florian S
The Neurologist, ISSN 1074-7931, 11/2009, Volume 15, Issue 6, pp. 319 - 328
BACKGROUND:The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed... 
Metachromatic leukodystrophy | Vanishing white matter disease | Magnetic resonance imaging | Leukodystrophy | Krabbe disease | X-linked adrenoleukodystrophy | Alexander disease | metachromatic leukodystrophy | magnetic resonance imaging | PROTEOLIPID PROTEIN GENE | leukodystrophy | VANISHING WHITE-MATTER | CLINICAL NEUROLOGY | AICARDI-GOUTIERES-SYNDROME | ADULT METACHROMATIC LEUKODYSTROPHY | PELIZAEUS-MERZBACHER-DISEASE | vanishing white matter disease | SUBCORTICAL CYSTS | MEGALENCEPHALIC LEUKOENCEPHALOPATHY | GLOBOID-CELL LEUKODYSTROPHY | KRABBE-DISEASE | Diagnostic Imaging - methods | Nerve Fibers, Myelinated - pathology | Humans | Age of Onset | Hereditary Central Nervous System Demyelinating Diseases - diagnosis | Hereditary Central Nervous System Demyelinating Diseases - classification | Hereditary Central Nervous System Demyelinating Diseases - therapy
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