Literature DB >> 27126452

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

Xavier Ayrignac1,2, Clemence Boutiere3, Clarisse Carra-Dalliere4, Pierre Labauge4.   

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.

Entities:  

Keywords:  Genetic; Leukodystrophy; Leukoencephalopathy; MRI; White matter disease

Mesh:

Year:  2016        PMID: 27126452     DOI: 10.1007/s00415-016-8131-2

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  57 in total

1.  Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation.

Authors:  R Biancheri; D Rossi; D Cassandrini; A Rossi; C Bruno; F M Santorelli
Journal:  AJNR Am J Neuroradiol       Date:  2010-06-25       Impact factor: 3.825

2.  Progression of the olivopontocerebellar form of adrenoleukodystrophy as shown by MRI.

Authors:  S Suda; Y Komaba; T Kumagai; M Yamazaki; T Katsumata; T Kamiya; Y Katayama
Journal:  Neurology       Date:  2006-01-10       Impact factor: 9.910

3.  Teaching neuroimages: Cerebral adrenoleukodystrophy: a rare adult form.

Authors:  Rania A Elenein; Sunil Naik; Stephanie Kim; Vineet Punia; Karin Jin
Journal:  Neurology       Date:  2013-02-05       Impact factor: 9.910

4.  The spatial distribution of MR imaging abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and their relationship to age and clinical features.

Authors:  Sumeet Singhal; Philip Rich; Hugh S Markus
Journal:  AJNR Am J Neuroradiol       Date:  2005 Nov-Dec       Impact factor: 3.825

5.  Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.

Authors:  Charalampos Tzoulis; Gia Tuong Tran; Ivar Otto Gjerde; Jan Aasly; Gesche Neckelmann; Jana Rydland; Viktoria Varga; Pia Wadel-Andersen; Laurence A Bindoff
Journal:  J Neurol       Date:  2011-07-27       Impact factor: 4.849

6.  Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Authors:  Fanny Mochel; Raphael Schiffmann; Marjan E Steenweg; Hasan O Akman; Mary Wallace; Frédéric Sedel; Pascal Laforêt; Richard Levy; J Michael Powers; Sophie Demeret; Thierry Maisonobe; Roseline Froissart; Bruno Barcelos Da Nobrega; Brent L Fogel; Marvin R Natowicz; Catherine Lubetzki; Alexandra Durr; Alexis Brice; Hanna Rosenmann; Varda Barash; Or Kakhlon; J Moshe Gomori; Marjo S van der Knaap; Alexander Lossos
Journal:  Ann Neurol       Date:  2012-09       Impact factor: 10.422

7.  Patterns of MRI lesions in CADASIL.

Authors:  H Chabriat; C Levy; H Taillia; M T Iba-Zizen; K Vahedi; A Joutel; E Tournier-Lasserve; M G Bousser
Journal:  Neurology       Date:  1998-08       Impact factor: 9.910

8.  Phenotypic variation in leukoencephalopathy with vanishing white matter.

Authors:  M S van der Knaap; W Kamphorst; P G Barth; C L Kraaijeveld; E Gut; J Valk
Journal:  Neurology       Date:  1998-08       Impact factor: 9.910

9.  Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation.

Authors:  S Ito; W Shirai; M Asahina; T Hattori
Journal:  AJNR Am J Neuroradiol       Date:  2007-11-07       Impact factor: 3.825

10.  MR of the brain in mitochondrial myopathy.

Authors:  S H Wray; J M Provenzale; D R Johns; K R Thulborn
Journal:  AJNR Am J Neuroradiol       Date:  1995-05       Impact factor: 3.825

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  1 in total

1.  Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease.

Authors:  Luisa Chiapparini; Giulio Cavalli; Tiziana Langella; Anna Venerando; Giacomo De Luca; Sergio Raspante; Giorgio Marotta; Bianca Pollo; Giuseppe Lauria; Maria Giulia Cangi; Simonetta Gerevini; Andrea Botturi; Davide Pareyson; Lorenzo Dagna; Ettore Salsano
Journal:  J Neurol       Date:  2017-12-04       Impact factor: 4.849

  1 in total

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