Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.

doi:10.3233/JAD-141026

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Article

Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.

Journal of Alzheimer's disease : JAD - 1 Jan 2014

Di Donato Ilaria, Dotti Maria Teresa, Federico Antonio

Abstract excerpt

Adult-onset leukoencephalopathies are clinically and pathologically heterogeneous diseases, characterized by overlapping clinical and neuroradiological features and a difficult diagnostic process. Nevertheless, knowledge of the metabolic and genetic basis of leukoencephalopathies is constantly increasing. This article provides an overview of currently known leukoencephalopathies in adulthood, emphasizing, in...

Topics

Chromosomes, Human, Pair 21
Genetic Predisposition to Disease
Humans
Lamin Type B
Leukoencephalopathies
Mutation

Source

Open in PubMed

Identifiers

PMID: 24958462
DOI: 10.3233/JAD-141026

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