Affiliations: Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy
Correspondence:
[*]
Correspondence to: Antonio Federico, Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100 Siena, Italy. Tel.: +39 0577 585763; Fax: +39 0577 40327; E-mail: [email protected].
Abstract: 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 addition to the classical forms, their atypical clinical presentations. In particular, we review the clinical spectrum and the molecular pathogenesis of certain adult-onset leukoencephalopathies, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), cerebroretinal microangiopathy with calcifications and cysts (CRMCC), hereditary diffuse leukoencephalopathy with spheroids (HDLS), fragile X-associated tremor/ataxia syndrome (FXTAS), vanishing white matter disease (VWM), autosomal dominant leukodystrophy due to lamin B1 duplication (ADLD), and vascular leukoencephalopathy mapping to chromosome 20q13.
Keywords: Adult onset leukoencephalopathies, inherited diseases, white matter
