Literature DB >> 32879996

Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies.

Laurens J L De Cocker1, Mauricio Castillo2.   

Abstract

Genetic leukoencephalopathies are inherited disorders characterized by progressive white matter involvement. Although most are paediatric conditions, late-onset adult leukoencephalopathies are being increasingly recognized. Adult leukoencephalopathies may present as neurodegenerative diseases with cognitive decline and motor symptoms. Similar to their paediatric counterparts, different adult leukoencephalopathies often have distinctive MRI appearances. In particular, DWI has been recently shown to demonstrate specific patterns of persistent diffusion restriction in several adult-onset leukoencephalopathies. As such, DWI may provide important clues to the diagnosis of adult-onset leukoencephalopathy. The purpose of this review is to discuss characteristic DWI features in some late-onset leukoencephalopathies.

Entities:  

Keywords:  Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP); Fragile X-associated tremor and/or ataxia syndrome (FXTAS); Leukoencephalopathy due to autosomal recessive mutations in the mitochondrial alanyl–transfer RNA (tRNA) synthetase gene (AARS2-L); Neuronal intranuclear inclusion disease (NIID)

Year:  2020        PMID: 32879996     DOI: 10.1007/s00234-020-02543-4

Source DB:  PubMed          Journal:  Neuroradiology        ISSN: 0028-3940            Impact factor:   2.804


  8 in total

1.  Persistent Diffusion-weighted Imaging Abnormalities in Adult Leukodystrophies.

Authors:  Laurens J L De Cocker
Journal:  Radiographics       Date:  2019 Jul-Aug       Impact factor: 5.333

2.  Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.

Authors:  Hiroyuki Ishiura; Shota Shibata; Jun Yoshimura; Yuta Suzuki; Wei Qu; Koichiro Doi; M Asem Almansour; Junko Kanda Kikuchi; Makiko Taira; Jun Mitsui; Yuji Takahashi; Yaeko Ichikawa; Tatsuo Mano; Atsushi Iwata; Yasuo Harigaya; Miho Kawabe Matsukawa; Takashi Matsukawa; Masaki Tanaka; Yuichiro Shirota; Ryo Ohtomo; Hisatomo Kowa; Hidetoshi Date; Aki Mitsue; Hiroyuki Hatsuta; Satoru Morimoto; Shigeo Murayama; Yasushi Shiio; Yuko Saito; Akihiko Mitsutake; Mizuho Kawai; Takuya Sasaki; Yusuke Sugiyama; Masashi Hamada; Gaku Ohtomo; Yasuo Terao; Yoshihiko Nakazato; Akitoshi Takeda; Yoshio Sakiyama; Yumi Umeda-Kameyama; Jun Shinmi; Katsuhisa Ogata; Yutaka Kohno; Shen-Yang Lim; Ai Huey Tan; Jun Shimizu; Jun Goto; Ichizo Nishino; Tatsushi Toda; Shinichi Morishita; Shoji Tsuji
Journal:  Nat Genet       Date:  2019-07-22       Impact factor: 38.330

3.  MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases.

Authors:  A Sugiyama; N Sato; Y Kimura; T Maekawa; M Enokizono; Y Saito; Y Takahashi; H Matsuda; S Kuwabara
Journal:  AJNR Am J Neuroradiol       Date:  2017-08-17       Impact factor: 3.825

4.  Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases.

Authors:  P Codjia; X Ayrignac; F Mochel; K Mouzat; C Carra-Dalliere; G Castelnovo; E Ellie; F Etcharry-Bouyx; C Verny; S Belliard; D Hannequin; C Marelli; Y Nadjar; I Le Ber; I Dorboz; S Samaan; O Boespflug-Tanguy; S Lumbroso; P Labauge
Journal:  AJNR Am J Neuroradiol       Date:  2018-08-16       Impact factor: 3.825

Review 5.  Adulthood leukodystrophies.

Authors:  Wolfgang Köhler; Julian Curiel; Adeline Vanderver
Journal:  Nat Rev Neurol       Date:  2018-01-05       Impact factor: 42.937

Review 6.  Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.

Authors:  Rahul Lakshmanan; Matthew E Adams; David S Lynch; Justin A Kinsella; Rahul Phadke; Jonathan M Schott; Elaine Murphy; Jonathan D Rohrer; Jeremy Chataway; Henry Houlden; Nick C Fox; Indran Davagnanam
Journal:  Neurol Genet       Date:  2017-02-15

7.  Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.

Authors:  Jun Sone; Keiko Mori; Tomonori Inagaki; Ryu Katsumata; Shinnosuke Takagi; Satoshi Yokoi; Kunihiko Araki; Toshiyasu Kato; Tomohiko Nakamura; Haruki Koike; Hiroshi Takashima; Akihiro Hashiguchi; Yutaka Kohno; Takashi Kurashige; Masaru Kuriyama; Yoshihisa Takiyama; Mai Tsuchiya; Naoyuki Kitagawa; Michi Kawamoto; Hajime Yoshimura; Yutaka Suto; Hiroyuki Nakayasu; Naoko Uehara; Hiroshi Sugiyama; Makoto Takahashi; Norito Kokubun; Takuya Konno; Masahisa Katsuno; Fumiaki Tanaka; Yasushi Iwasaki; Mari Yoshida; Gen Sobue
Journal:  Brain       Date:  2016-10-25       Impact factor: 13.501

8.  Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

Authors:  Rita Guerreiro; Eleanna Kara; Isabelle Le Ber; Jose Bras; Jonathan D Rohrer; Ricardo Taipa; Tammaryn Lashley; Céline Dupuits; Nicole Gurunlian; Fanny Mochel; Jason D Warren; Didier Hannequin; Frédéric Sedel; Christel Depienne; Agnès Camuzat; Véronique Golfier; Foucaud Du Boisguéheneuc; Lucia Schottlaender; Nick C Fox; Jonathan Beck; Simon Mead; Martin N Rossor; John Hardy; Tamas Revesz; Alexis Brice; Henry Houlden
Journal:  JAMA Neurol       Date:  2013-07       Impact factor: 18.302

  8 in total

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