Results 111 to 120 of about 1,085 (157)

Retinal Vasculopathy With Cerebral Leukoencephalopathy Mimicking a Brain Tumor: A Case Report. [PDF]

Cureus
Villegas Hernández JC, Sánchez Sánchez CE, Sahagún Leyva KK, Lozano Santos BS, Ortiz-Plata A, Monroy-Jaramillo N, Tena Suck ML.   +6 more
europepmc   +1 more source

Late Cognitive or Mood Alterations With 'Status Cribrosum' and Diffuse White Matter Lesions: A New Cerebral Small Vessel Disease Phenotype Associated With Rare COL4A1 Variants Located Within Exon 23. [PDF]

Eur J Neurol
Morel H, Dufourd-Delalande S, Bloch W, Graber M, Weber S, Machado C, Coste T, Chabriat H, Tournier-Lasserve E, Guey S.   +9 more
europepmc   +1 more source

CSF1R-related leukoencephalopathy presenting with early apathy, hypoactivity, and cognitive flattening: a case report of a diagnostic challenge. [PDF]

Front Hum Neurosci
Yang W, Li C, Zhang H, Zhang Y.
europepmc   +1 more source

Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic. [PDF]

Biomedicines
Marsili L, Duque KR, Abanto J, Chinchihualpa Paredes NO, Duker AP, Collins K, Miranda M, Bustamante ML, Pauciulo M, Dixon M, Chaib H, Perez-Maturo J, Hill EJ, Espay AJ, Kauffman MA.   +14 more
europepmc   +1 more source

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
Lund TC, Miettunen K, Jaspers YRJ, Bergner C, Bonkowsky JL, Bruschi F, Cohen JS, Dijkstra IME, Eichler FS, Mallack EJ, Salomons GS, Thompson R, Tonduti D, van Haren KP, Wamelink MMC, Zerem A, Engelen M, Kemp S.   +17 more
europepmc   +1 more source

Lymphomatosis Cerebri Presenting as Steroid-Refractory Demyelinating Disease: A Diagnostic Challenge. [PDF]

Cureus
Koodaly GG, Baheti A, Kulkarni S, Nayak L, Patil V.   +4 more
europepmc   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders. [PDF]

FEBS Lett
Biswas SR, Tomsick PL, Pickrell AM, Morton PD.   +3 more
europepmc   +1 more source

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Leukodystrophies and genetic leukoencephalopathies in children

Revue Neurologique, 2020
Leukodystrophies and genetic leukoencephalopathies are a large group of genetic disorders affecting central nervous system white matter. They can begin at any age, however this study focuses on disorders beginning in childhood and adolescence. We discuss the recent definitions, classifications, and classic syndromes, as well as genetic progress in the ...
exaly   +4 more sources

Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study [PDF]

Developmental Medicine and Child Neurology, 2016
AimTo report on the epidemiology of the brain white matter disorders of children identified via a national prospective study.MethodSince 1997 a study of UK children with progressive intellectual and neurological deterioration (PIND) has used the British Paediatric Surveillance Unit system to identify children with progressive neurodegenerative disease.
Marjo van der Knaap, Anne Marie Winstone
exaly   +4 more sources

Clinical and genetic characterization of leukoencephalopathies in adults. [PDF]

Brain, 2017
Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs.
Jeremy Chataway, Aine Merwick, Matilde Laura   +2 more
exaly   +4 more sources