Genetic Analysis of Inherited Leukodystrophies
نویسندگان
چکیده
منابع مشابه
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.
IMPORTANCE The leukodystrophies comprise a clinically and genetically heterogeneous group of progressive hereditary neurological disorders mainly affecting the myelin in the central nervous system. Their onset is variable from childhood to adulthood and presentation can be with a variety of clinical features that include mainly for adult-onset cases cognitive decline, seizures, parkinsonism, mu...
متن کاملA diagnostic checklist of leukodystrophies and other genetic metabolic leukoencephalopathies
The following Table is meant to help neurologists and neuroradiologists in the diagnosis of a leukodystrophy or leukoencephalopathy suspected to be of genetic origin. We have tried to classify the large number of possible causes according to different criteria:-Basic pathogenetic mechanism (lysosomal, peroxisomal, or other molecular defects)-Recognizable neuroradiological criteria (hypomyelinat...
متن کاملThe leukodystrophies.
Leukodystrophies are a group of genetically determined disorders that affect development or maintenance of central nervous system myelin. Leukodystrophies have a reported incidence of 1 in 7500 live births, but fewer than half of patients receive a specific diagnosis. In this review, the authors discuss types of leukodystrophies: their prevalence, clinical presentation, symptoms, and diagnosis,...
متن کاملGenetic analysis of inherited hypertension in the rat.
Blood pressure is a quantitative trait that has a strong genetic component in humans and rats. Several selectively bred strains of rats with divergent blood pressures serve as an animal model for genetic dissection of the causes of inherited hypertension. The goal is to identify the genetic loci controlling blood pressure, i.e., the so-called quantitative trait loci (QTL). The theoretical basis...
متن کاملLeukodystrophies: classification, diagnosis, and treatment.
BACKGROUND The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and increased availability of neuroimaging, our understanding of these diseases is increasing at a steady rate. Recent advances in the diagnosis and ...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2013
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2013.698