成人型遗传脑白质病：关注最近定义形式

Title:Adult-Onset Genetic Leukoencephalopathies. Focus on the More Recently Defined Forms

Volume: 14 Issue: 8

Author(s): I. Di Donato, S. Banchi, A. Federico and M.T. Dotti

Affiliation:

关键词: 遗传性多发梗死痴呆病，遗传学，脑白质营养不良，脑白质病，髓磷脂，白质障碍

摘要: Inherited white matter (WM) disorders include a heterogenous group of disorders affecting brain white matter and associated with myelin, axonal and glial cells or vascular pathology. Often a wide range of overlapping neurological manifestations possibly associated with variable systemic involvement are found in these disorders making clinical diagnosis challenging. Advances in molecular genetics enabled the identification of the responsible genes of an increasing number of previously undefined forms.

This review focuses on genetic leukoencephalopathies with exclusive adulthood presentation, most of which have an autosomal dominant inheritance. The most common forms are related to vascular pathology, such as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), COL4A1-related leukoencephalopathy, retinal vasculopathy with cerebral leukodystrophy (RVCL), and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Also cerebroretinal microangiopathy with cysts and calcifications (CRMCC), which presents a prevalent infantile onset, will be detailed because of the vascular based myelin damage and the recent genetic characterization. Other adult onset (AO) leukoencephalopathies, such as the recently genetically defined hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS), adult-onset autosomal dominant leukodystrophy (ADLD) due to LMNB1 duplication, adult polyglucosan body disease (APBD), and fragile X-associated tremor/ataxia syndrome (FXTAS) will be detailed shortly. Short notes on the clinical and MRI features of late onset variants of the classical infantile-onset leukodystrophies mostly related to metabolic disorders will also be given. Finally, palliative, curative and experimental treatment options are here summarized.

Cite this article as:

Donato Di I., Banchi S., Federico A. and Dotti M.T., Adult-Onset Genetic Leukoencephalopathies. Focus on the More Recently Defined Forms, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010130545