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Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies

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Abstract

Adult-onset genetic leukoencephalopathies are increasingly recognized. They are heterogeneous groups of disorders that commonly have distinct pathologic mechanisms but they share the presence of supratentorial bilateral and symmetric white matter hyperintensities. Although these abnormalities are usually non-specific, some specific MRI findings exist and sometimes help to distinguish these disorders. In this review, our aim is to describe posterior fossa abnormalities seen in the main adult-onset genetic leukoencephalopathies enabling clinicians to perform oriented genetic/metabolic screening.

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Acknowledgments

We would like to thank Dr Yann Nadjar (Département des Maladies du Système Nerveux CHU Paris-Hôpital Pitié Salpêtrière, Paris) for his participation.

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Authors and Affiliations

  1. Service de Neurologie, CHU de Montpellier, Hôpital Gui De Chauliac, 80 Av Augustin FLICHE, 34295, Montpellier, France

    Xavier Ayrignac, Clarisse Carra-dalliere & Pierre Labauge

  2. Institut des Neurosciences Montpellier (INM), Inserm UMR1051, Hôpital Saint-Eloi, Montpellier, France

    Xavier Ayrignac

  3. Service de Neurologie, Pôle de Neurosciences Cliniques, APHM, Hôpital de la Timone, Marseille, France

    Clemence Boutiere

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  1. Xavier Ayrignac
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Correspondence to Xavier Ayrignac.

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Ayrignac, X., Boutiere, C., Carra-dalliere, C. et al. Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies. J Neurol 263, 2361–2368 (2016). https://doi.org/10.1007/s00415-016-8131-2

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