Results 131 to 140 of about 1,085 (157)
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Journal of Child Neurology, 2020
The overlapping clinical and neuroimaging phenotypes of leukodystrophies pose a diagnostic challenge to both clinicians and researchers alike. Studies on the application of exome sequencing in the diagnosis of leukodystrophies are emerging. We used targeted gene panel sequencing of 6440 genes to investigate the genetic etiology in a cohort of 50 ...
Parayil Sankaran Bindu +2 more
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The overlapping clinical and neuroimaging phenotypes of leukodystrophies pose a diagnostic challenge to both clinicians and researchers alike. Studies on the application of exome sequencing in the diagnosis of leukodystrophies are emerging. We used targeted gene panel sequencing of 6440 genes to investigate the genetic etiology in a cohort of 50 ...
Parayil Sankaran Bindu +2 more
exaly +3 more sources
Leukodystrophy or genetic leukoencephalopathy? Nature does not make leaps
Molecular Genetics and Metabolism, 2015The importance of classification was first recognized by Aristotle of caused by mutations in the ABCD1 gene that is variably expressed in Stagira, the great Greek philosopher who proposed rigorous classifications in literally every area of human knowledge. Classifications are indispensable for language and convenient for our ordinary mental operations [
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Adult-Onset Genetic Leukoencephalopathies. Focus on the More Recently Defined Forms
Current Molecular Medicine, 2014Inherited white matter (WM) disorders include a heterogenous group of disorders affecting brain white matter and associated with myelin, axonal and glial cells or vascular pathology. Often a wide range of overlapping neurological manifestations possibly associated with variable systemic involvement are found in these disorders making clinical diagnosis
Di Donato I. +3 more
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Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics
Neurological Sciences, 2016Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease characterized by giant neuroaxonal swellings (spheroids) within the cerebral white matter (WM). Symptoms are variable and can include cognitive, mental and motor dysfunctions.
Carmen, Stabile +4 more
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Acta Neuropathologica, 2006
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disorder characterized by cerebral white matter degeneration with axonal spheroids leading to progressive cognitive and motor dysfunction. We report clinical and pathological features, as well as molecular genetic analysis, of a family with HDLS.
Yasuhiko, Baba +10 more
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Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disorder characterized by cerebral white matter degeneration with axonal spheroids leading to progressive cognitive and motor dysfunction. We report clinical and pathological features, as well as molecular genetic analysis, of a family with HDLS.
Yasuhiko, Baba +10 more
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Pediatric Neurology, 2014
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare and genetically heterogeneous cerebral white matter disease. Clinically, it is characterized by macrocephaly, developmental delay, and seizures. We explore the clinical spectrum, neuroimaging characteristics, and gene involvement in the first patients with megalencephalic ...
Iman G, Mahmoud +8 more
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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare and genetically heterogeneous cerebral white matter disease. Clinically, it is characterized by macrocephaly, developmental delay, and seizures. We explore the clinical spectrum, neuroimaging characteristics, and gene involvement in the first patients with megalencephalic ...
Iman G, Mahmoud +8 more
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Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA
European Journal of Medical Genetics, 2019Ribose 5-phosphate isomerase deficiency is a rare genetic leukoencephalopathy caused by pathogenic sequence variants in RPIA, that encodes ribose 5-phosphate isomerase, an enzyme in the pentose phosphate pathway. Till date, only three individuals with ribose 5-phosphate isomerase deficiency have been described in literature. We report on a subject with
Kaur, Parneet +4 more
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“Genetic leukodystrophies and leukoencephalopathies in a referral center”
Journal of the Neurological Sciences, 2023Dianela Gasca Saldaña +3 more
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[Genetic changes possibly associated with progressive multifocal leukoencephalopathy].
Brain and nerve = Shinkei kenkyu no shinpo, 2007Progressive multifocal leukoencephalopathy (PML) is a fetal demyelinating disease in the central nervous system. PML was once a rare disease, but it is now relatively common among AIDS (acquired immunodeficiency syndrome) patients. The immunological state of patients mainly contributes to the pathogenesis of PML.
Yoshiaki, Yogo +3 more
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1986
This item was digitized as part of a project to share McGill's intellectual legacy with the public. If you are the copyright holder or a relative of the copyright holder who is deceased, you may request withdrawal by emailing escholarship.library@mcgill.ca.
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This item was digitized as part of a project to share McGill's intellectual legacy with the public. If you are the copyright holder or a relative of the copyright holder who is deceased, you may request withdrawal by emailing escholarship.library@mcgill.ca.
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