Results 11 to 20 of about 1,799 (195)

Rare presentation of levamisole-induced leukoencephalopathy in a pediatric patient: seizure

The Turkish Journal of Pediatrics, 2021
Background. Levamisole is an imidazole derivative used in the treatment of various cancers, dermatological diseases, and parasitosis. Illegal use of levamisole by mixing it with cocaine in order to increase the psychotropic effects has also ...
Cem Paketçi, Derya Okur, Semra Hız, Uluç Yiş   +3 more
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Identification of a Novel Heterozygous Mutation in the EIF2B4 Gene Associated With Vanishing White Matter Disease

Frontiers in Bioengineering and Biotechnology, 2022
Vanishing white matter disease (VWM) is one of the most common childhood inherited leukoencephalopathies with autosomal recessive inheritance. Mutations in five genes, EIF2B1-5, have been identified as the major cause of VWM.
Yun Tian, Yun Tian, Qiong Liu, Qiong Liu, Yafang Zhou, Yafang Zhou, Xiao-Yu Chen, Yongcheng Pan, Yongcheng Pan, Hongwei Xu, Hongwei Xu, Zhuanyi Yang   +11 more
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Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

Frontiers in Neurology, 2023
IntroductionX-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the ABCD1 gene. The main phenotypes observed in men with X-ALD are primary adrenal insufficiency, adrenomyeloneuropathy, and ...
Eleonora Bonaventura, Eleonora Bonaventura, Luisella Alberti, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Giana Izzo, Cecilia Parazzini, Cecilia Parazzini, Alessandra Bosetti, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Matilde Ferrario, Chiara Mameli, Chiara Mameli, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Silvia Masnada, Gian Vincenzo Zuccotti, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Pierangelo Veggiotti, Pierangelo Veggiotti, Luigina Spaccini, Luigina Spaccini, Maria Iascone, Elvira Verduci, Elvira Verduci, Elvira Verduci, Cristina Cereda, Cristina Cereda, Davide Tonduti, Davide Tonduti, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala   +102 more
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Uncertainty of leukoencephalopathies: a case report

Journal of Medical Case Reports, 2021
Background Adult-onset leukoencephalopathies are a group of heterogeneous disorders characterized by white matter abnormalities. Leukoencephalopathy is usually encountered in children, but here we report a case with adult-onset leukoencephalopathy. Also,
Mohamed A. Taha, T. Scott Diesing
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High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy

Frontiers in Neurology, 2021
Leukodystrophies are a diverse group of genetic disorders that selectively involve the white matter of the brain and are a frequent cause of young-onset cognitive impairment. Genetic diagnosis is challenging.
Zhiyong Chen, Yi Jayne Tan, Michelle M. Lian, Moses Tandiono, Jia Nee Foo, Jia Nee Foo, Weng Khong Lim, Weng Khong Lim, Nagaendran Kandiah, Nagaendran Kandiah, Eng-King Tan, Eng-King Tan, Adeline S. L. Ng, Adeline S. L. Ng   +13 more
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Opioid-Induced Leukoencephalopathies: A Report of Two Cases

Case Reports in Neurology, 2022
Acute toxic leukoencephalopathy (ATL) and delayed post-hypoxic leukoencephalopathy (DPHL) are two possible adverse entities related to opioid intoxication (OI), each having a distinct clinical course.
Gustav Højrup Knudsen, Nata Kermanian, Carsten Hanshelge Kock-Jensen, Ronald Antulov   +3 more
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Genetic investigation of dementias in clinical practice

Arquivos de Neuro-Psiquiatria, 2022
Background: The field of neurodegenerative dementia genetics has advanced significantly over the past two decades, but there are still more to be discovered (such as the gene mutation in some familial forms of dementia).
Leonel Tadao Takada
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The Role of Microglia in Inherited White-Matter Disorders and Connections to Frontotemporal Dementia

The Application of Clinical Genetics, 2021
Daniel W Sirkis,1 Luke W Bonham,1,2 Jennifer S Yokoyama1,2 1Memory and Aging Center, Department of Neurology, University of California San Francisco, San Francisco, CA, 94158, USA; 2Department of Radiology & Biomedical Imaging, University of ...
Sirkis DW, Bonham LW, Yokoyama JS
doaj  

Leukoencephalopathy with calcifications and cysts in a child with progressive hemiparesis—A case report

Journal of Pediatric Neurosciences, 2021
With the advent of modern neuroimaging, the imaging features of various leukoencephalopathies have been unraveled in the past two decades. Leukoencephalopathy with calcifications and cysts (LCC) is one such rare autosomal recessive disorder with marked ...
Minhaj Shaikh, Sarbesh Tiwari, Taruna Yadav, Pawan K Garg, Pushpinder S Khera   +4 more
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Epidemiology of Progressive Neurological Disease

Pediatric Neurology Briefs, 2010
Since 1997, researchers in the UK have searched for variant Creutzfeldt-Jacob and other diseases that cause progressive intellectual and neurological deterioration (PIND) by sending a monthly surveillance card to UK pediatricians.
J Gordon Millichap
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