Adulthood leukodystrophies
W Köhler, J Curiel, A Vanderver - Nature Reviews Neurology, 2018 - nature.com
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous
genetic background, considerable phenotypic variability and disease onset at all ages. This …
genetic background, considerable phenotypic variability and disease onset at all ages. This …
Leukodystrophies: classification, diagnosis, and treatment
DJ Costello, AF Eichler, FS Eichler - The neurologist, 2009 - journals.lww.com
Background: The leukodystrophies are a heterogeneous group of diseases, which primarily
affect white matter. Symptomatic patients are frequently misdiagnosed and the …
affect white matter. Symptomatic patients are frequently misdiagnosed and the …
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
MR Ashrafi, M Amanat, M Garshasbi… - Expert review of …, 2020 - Taylor & Francis
Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders
primarily affecting the white matter of central nervous system. These conditions are often …
primarily affecting the white matter of central nervous system. These conditions are often …
Leukodystrophies with late disease onset: an update
W Köhler - Current opinion in neurology, 2010 - journals.lww.com
Better understanding of leukodystrophies in neurological routine practice is of crucial
importance for differentiating between other white matter diseases such as toxic …
importance for differentiating between other white matter diseases such as toxic …
Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms
MS Van der Knaap, M Bugiani - Acta neuropathologica, 2017 - Springer
Leukodystrophies are genetically determined disorders characterized by the selective
involvement of the central nervous system white matter. Onset may be at any age, from …
involvement of the central nervous system white matter. Onset may be at any age, from …
Update on leukodystrophies: a historical perspective and adapted definition
SH Kevelam, ME Steenweg, S Srivastava… - …, 2016 - thieme-connect.com
Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily
affecting myelin of the central nervous system. At that time, a limited number of such …
affecting myelin of the central nervous system. At that time, a limited number of such …
Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era
DS Lynch, C Wade, ARB De Paiva, N John… - Journal of Neurology …, 2019 - jnnp.bmj.com
Adult-onset leukodystrophies and genetic leukoencephalopathies comprise a diverse group
of neurodegenerative disorders of white matter with a wide age of onset and phenotypic …
of neurodegenerative disorders of white matter with a wide age of onset and phenotypic …
Childhood leukodystrophies: a clinical perspective
A Kohlschütter, F Eichler - Expert review of neurotherapeutics, 2011 - Taylor & Francis
Leukodystrophies are white matter disorders that are genetic in nature. In the young, they
represent an important cause of progressive neurological disability. They are frequently …
represent an important cause of progressive neurological disability. They are frequently …
Diagnosis, prognosis, and treatment of leukodystrophies
MS van der Knaap, R Schiffmann, F Mochel… - The Lancet …, 2019 - thelancet.com
Leukodystrophies comprise a large group of rare genetic disorders primarily affecting CNS
white matter. Historically, the diagnostic process was slow and patient prognosis regarded …
white matter. Historically, the diagnostic process was slow and patient prognosis regarded …
Adult leukodystrophies: a step-by-step diagnostic approach
LL Resende, ARB de Paiva, F Kok, C da Costa Leite… - Radiographics, 2019 - pubs.rsna.org
Leukodystrophies usually affect children, but in the last several decades, many instances of
adult leukodystrophies have been reported in the medical literature. Because the clinical …
adult leukodystrophies have been reported in the medical literature. Because the clinical …