Results 21 to 30 of about 1,085 (157)

Is There a (Host) Genetic Predisposition to Progressive Multifocal Leukoencephalopathy? [PDF]

Frontiers in Immunology, 2015
Progressive multifocal leukoencephalopathy (PML) has been described in association with a variety of predisposing risk factors, including HIV/AIDS, lymphoproliferative disorders and, most recently, treatment with a range of biologics, most notably natalizumab in multiple sclerosis (MS) (1).
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Vision and sensorimotor defects associated with loss of Vps11 function in a zebrafish model of genetic leukoencephalopathy

Scientific Reports, 2022
Genetic Leukoencephalopathies (gLEs) are heritable white matter disorders that cause progressive neurological abnormalities. A founder mutation in the human endolysosomal trafficking protein VPS11 has been identified in Ashkenazi Jewish patients ...
Shreya Banerjee, Lillian E. Ranspach, Xixia Luo, Lauren T. Cianciolo, Joseph Fogerty, Brian D. Perkins, Ryan Thummel   +6 more
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Reprint of “Hypomyelinating disorders: An MRI approach

Neurobiology of Disease, 2016
In recent years, the concept of hypomyelinating disorders has been proposed as a group of disorders with varying systemic manifestations that are identified by MR findings of absence or near absence of the T2 hypointensity that develops in white matter ...
A. James Barkovich, Sean Deon
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Hypomyelinating disorders: An MRI approach

Neurobiology of Disease, 2016
In recent years, the concept of hypomyelinating disorders has been proposed as a group of disorders with varying systemic manifestations that are identified by MR findings of absence or near absence of the T2 hypointensity that develops in white matter ...
A. James Barkovich, Sean Deon
doaj   +1 more source

Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Turkish Journal Of Neurology, 2021
Objective: Most lacunar strokes are sporadic, and hypertension, diabetes, smoking, and cardiovascular diseases are among its main risk factors. Strokes caused by small vessel diseases are generally associated with single-gene disorders with familial dominant and recessive inheritance.
Rustemoglu, Burcu Sevinc, Samanci, Bedia, Tepgec, Fatih, Kurtuncu, Murat, Altunoglu, Umut, Gunduz, Tuncay, Sayin, Gozde Yesil, Avci, Sahin, Gurvit, Hakan, Bilgic, Basar, Toksoy, Guven, Eraksoy, Mefkure, Hanagasi, Hasmet, Uyguner, Zehra Oya   +13 more
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Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review

Frontiers in Neurology, 2019
Phenylketonuria is a hereditary metabolic disorder due to the deficiency of tetrahydrobiopterin or phenylalanine hydroxylase. Delayed diagnoses of it manifest a progressive irreversible neurological impairment in the early years of the disease.
Shuna Chen, Mingqin Zhu, Yulei Hao, Jiachun Feng, Ying Zhang   +4 more
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Expanding the Phenotypic Spectrum of MC3DN8: A Report of Three Patients Homozygous for the c.73G>A Variant in the LYRM7 Gene [PDF]

Annals of Child Neurology
Purpose To describe the clinical and neuroimaging features of mitochondrial complex III deficiency, nuclear type 8 (MC3DN8), associated with a recurrent leucine tyrosine arginine motif protein 7 (LYRM7) variant, and to place these findings in the context
Rafael Inácio, Patrícia Lipari Pinto, Guilherme Martins, Patrícia Janeiro, Oana Moldovan, Márcia Rodrigues, Graça Sá, Rita Jotta, Ana Gaspar, José Carlos Ferreira, Teresa Moreno, Sofia Quintas   +11 more
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A homozygous mutation of alanyl‐transfer RNA synthetase 2 in a patient of adult‐onset leukodystrophy: A case report and literature review

Brain and Behavior, 2019
Introduction Leukodystrophy is a group of hereditary leukoencephalopathies predominantly affecting the white matter. Multiple genes and mutations have been reported to be associated with this disorder.
Jian‐Yong Wang, Song‐Fang Chen, Hong‐Qiu Zhang, Meng‐Yan Wang, Jian‐Hong Zhu, Xiong Zhang   +5 more
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Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia

BMC Neurology, 2019
Background Vanishing white matter disease (VWMD) is one of the most prevalent inherited leukoencephalopathies, which generally presents in childhood as a progressive disorder while less beginning in adulthood.
Cuibai Wei, Qi Qin, Fei Chen, Aihong Zhou, Fen Wang, Xiumei Zuo, Rong Chen, Jihui Lyu, Jianping Jia   +8 more
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Clinical and Genetic Heterogeneity in Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC)

Neuropediatrics, 2003
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) was recently localized on chromosome 22q (tel) and 26 different mutations of the gene MLC1 have been found. We report three siblings of non-consanguineous parents who presented with characteristic features of MLC, but did not have MLC1 mutations.
Blattner, R., von Moers, A., Leegwater, PAJ, Hanefeld, Folker, van der Knaap, M. S., Kohler, W.   +5 more
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