Results 121 to 130 of about 1,085 (157)

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

Brain and Development, 2010
Abnormalities of CNS white matter are frequently detected in patients with neurological disorders when MRI studies are performed. Among the many causes of such abnormalities, a large group of rare genetic diseases poses considerable diagnostic problems.
Knut Brockmann, Ludger Schöls, Alfried Kohlschütter   +2 more
exaly   +3 more sources

Resolving ‘vascular parkinsonism’ –COL22A1 as a genetic adult-onset leukoencephalopathy

Parkinsonism & Related Disorders, 2023
We describe an elderly woman meeting criteria for vascular parkinsonism/dementia associated with a likely pathogenic variant in the COL22A1 gene, supported by functional experiments in a zebrafish model. We suggest that white matter hyperintensities may not represent small-vessel ischemic disease and that, if confirmed by further observations, COL22A1 ...
Luca Marsili, Marcelo A. Kauffman, Diandra Rufin Florat, Amir Zaidi, Vanesa Botsford, Jennifer Sharma, Elizabeth G. Keeling, Joseph P. Broderick, Saulius Sumanas, Alberto J. Espay   +9 more
openaire   +2 more sources

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

Neurology, 2003
Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephalic leukoencephalopathy and subcortical cysts (MLC) syndrome. Marked clinical intrafamilial and interfamilial variability in mutation-proven cases was found. A broad spectrum of pathogenetic mutations (missense, splice site, insertion, and deletions) were
PATRONO C., DI GIACINTO G., EYMARDPIERRE E., SANTORELLI F. M., RODRIGUEZ D., DE STEFANO N., FEDERICO A., GATTI D., BENIGNO V., MEGARBAN A., TABARKI B., BOESPFLUGTANGUY O., BERTINI E.   +12 more
openaire   +4 more sources

Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study

Journal of Child Neurology, 2020
Genetically determined leukoencephalopathies comprise a group of rare inherited white matter disorders. The majority are progressive diseases resulting in early death. We performed a cross-sectional pilot study including 55 parents from 36 families to assess the level of stress experienced by parents of patients with genetically determined ...
Daniela Pohl, Aaron Spahr, Elsa Rossignol   +2 more
exaly   +3 more sources

[Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era].

Revista de neurologia, 2020
Megalencephalic leukoencephalopathy with cysts is a leukodystrophy of genetic origin that produces an alteration in the water and ion homeostasis in the brain, generating vacuolar forms and chronic oedema in the white matter with progressive neurological deterioration.
Ballesteros-Cogollos V, Morell-García M, Aleu Pérez-Gramunt M, Montesinos-Sanchís E, Mirón-Mombiela R, Martínez-Martínez JC, Tomás-Vila M, Martínez-Castellano F   +7 more
openaire   +3 more sources

Genetic leukoencephalopathies with unknown metabolic pathogenesis

Neurological Sciences, 2001
The authors describe the principal forms of genetic leucodystrophies with unknown metabolic pathogenesis, indicating their main clinical signs and the new findings concerning the molecular genetic that are useful for the laboratory confirmation of the clinical suspicion.
Federico, Antonio, Rufa, Alessandra, Battisti, Carla, Bianchi, Silvia, Cardaioli, Elena, Da Pozzo, Paola, De Stefano, Nicola, Formichi, Patrizia, Sicurelli, F., Dotti, Maria   +9 more
openaire   +4 more sources

Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies

JAMA Neurology, 2017
Adult-onset genetic leukoencephalopathies and leukodystrophies are increasingly recognized as a heterogeneous group of disorders with new diagnostic approaches and potential treatments. In the new era of genomics, the challenging interpretation of individual genetic variations requires an accurate phenotypic description and classification. Clinical and
Xavier, Ayrignac, Gaël, Nicolas, Clarisse, Carra-Dallière, Didier, Hannequin, Pierre, Labauge   +4 more
openaire   +2 more sources

General approach to treatment of genetic leukoencephalopathies in children and adults

Handbook of Clinical Neurology / Edited By P J Vinken and G W Bruyn
Despite the enormous advancements seen in recent years, curative therapies for patients with genetic leukoencephalopathies are available for only a relatively small number of disorders. Therefore, symptomatic treatment and preventive management of the multiple clinical manifestations of patients with genetic leukoencephalopathies are critical in their ...
Roberta la Piana
exaly   +3 more sources

Molecular Genetic Studies in Indian Patients With Megalencephalic Leukoencephalopathy

Pediatric Neurology, 2011
Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts. We sought to identify mutations in the MLC1 gene, to evaluate the genotype-phenotype correlation, and to develop a strategy for diagnosing Indian patients with megalencephalic leukoencephalopathy. Forty patients were enrolled.
Pallavi, Shukla, Neerja, Gupta, Manju, Ghosh, Suman, Vasisht, Sheffali, Gulati, Prahlad, Balakrishnan, Raju, Sharma, Arun K, Gupta, Mahesh, Kamate, Veena, Kalra, Madhulika, Kabra   +10 more
openaire   +2 more sources

Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies

Neuroradiology, 2020
Genetic leukoencephalopathies are inherited disorders characterized by progressive white matter involvement. Although most are paediatric conditions, late-onset adult leukoencephalopathies are being increasingly recognized. Adult leukoencephalopathies may present as neurodegenerative diseases with cognitive decline and motor symptoms.
Mauricio Castillo, Laurens Jaak De Cocker   +1 more
exaly   +3 more sources