Results 1 to 10 of about 1,085 (157)

Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort [PDF]

Annals of Clinical and Translational Neurology, 2023
Objective Leukoencephalopathies are a group of heterogeneous disorders characterized by the degeneration of white matter, resulting in a variety of progressive neurological symptoms.
Minglei Liu, Yangyang Wang, Changhe Shi, Yanpeng Yuan, Lanjun Li, Xiaoyun Zhang, Yuming Xu, Jing Yang   +7 more
doaj   +5 more sources

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients. [PDF]

Brain, 2023
Abstract Genetic leukoencephalopathies (gLEs) are a highly heterogeneous group of rare genetic disorders. The spectrum of gLEs varies among patients of different ages. Distinct from the relatively more abundant studies of gLEs in children, only a few studies that explore the spectrum of adult gLEs have been published, and it should be ...
Xin-Gao Wang, Hongfei Tai
exaly   +4 more sources

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants [PDF]

Italian Journal of Pediatrics
Background Leukodystrophies (LDs) and genetic leukoencephalopathies (GLEs) encompass the spectrum of genetic white matter disorders (GWMDs). Despite their clinical significance, limited studies have investigated GWMDs in Egypt.
Mahmoud M. Noureldeen, Maha S. Zaki, Karima Rafat, Mohamed S. Abdel-Hamid, Aida M. S. Salem   +4 more
doaj   +2 more sources

Late-onset dementia with leukoencephalopathy and a COL4A2 gene variant, causal link or fortuitous association: a case report [PDF]

Cerebral Circulation - Cognition and Behavior
Background: Cerebral small vessel disease can manifest as vascular dementia, typically associated with vascular risk factors or cerebral amyloid angiopathy, and more rarely associated with hereditary conditions.
Antoine Garnier-Crussard, Alexandre Bani-Sadr, Isabelle Quadrio, Maïté Formaglio, Virginie Desestret, Elisabeth Tournier-Lasserve, Thibault Coste   +6 more
doaj   +2 more sources

An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief review [PDF]

Radiology Case Reports
White matter vanishing syndrome (WMS) is one of the most common hereditary leukoencephalopathies, affecting all ages, including newborns and adults.
Chafi Mohammed, Alaoui Omar, Taloubi Mohammed, Maarad Mohammed, Oujidi Younes, Ikram Zaid, Laaribi Ilyas, Ghizlane El Aidouni, Houssam Bkiyar, Brahim Housni   +9 more
doaj   +2 more sources

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study [PDF]

International Journal of Neonatal Screening
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease.
Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Antonello, Filippo Arrigoni, Marina Balestriero, Barbara Borsani, Laura Cappelletti, Elisa Cattaneo, Matilde Ferrario, Giulia Fiore, Maria Iascone, Giana Izzo, Simona Lucchi, Cecilia Parazzini, Michela Perrone Donnorso, Luigina Spaccini, Ylenia Vaia, Pierangelo Veggiotti, Elvira Verduci, Gianvincenzo Zuccotti, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group   +23 more
doaj   +2 more sources

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
doaj   +1 more source

PET Beta-Amyloid Tracer Uptake in Leukoencephalopathies: Comparing Metachromatic Leukodystrophy and CADASIL [PDF]

European Journal of Neurology
Angelo Del Sole, Ettore Salsano, Anna Bersano   +2 more
exaly   +2 more sources

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
doaj   +1 more source

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

Scientific Reports, 2021
This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh, Mahdieh Soveizi, Ali Reza Tavasoli, Ali Rabbani, Mahmoud Reza Ashrafi, Alfried Kohlschütter, Bahareh Rabbani   +6 more
doaj   +1 more source