Literature DB >> 18344012

Leukoencephalopathies associated with inborn errors of metabolism in adults.

F Sedel1, A Tourbah, B Fontaine, C Lubetzki, N Baumann, J-M Saudubray, O Lyon-Caen.   

Abstract

The discovery of a leukoencephalopathy is a frequent situation in neurological practice and the diagnostic approach is often difficult given the numerous possible aetiologies, which include multiple acquired causes and genetic diseases including inborn errors of metabolism (IEMs). It is now clear that IEMs can have their clinical onset from early infancy until late adulthood. These diseases are particularly important to recognize because specific treatments often exist. In this review, illustrated by personal observations, we give an overview of late-onset leukoencephalopathies caused by IEMs.

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Year:  2008        PMID: 18344012     DOI: 10.1007/s10545-008-0778-0

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.750


  67 in total

1.  Neurological deterioration in adult phenylketonuria.

Authors:  J Weglage; C Oberwittler; T Marquardt; J Schellscheidt; A von Teeffelen-Heithoff; G Koch; H Gerding
Journal:  J Inherit Metab Dis       Date:  2000-02       Impact factor: 4.982

2.  Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment.

Authors:  A L Boxer; J H Kramer; K Johnston; J Goldman; R Finley; B L Miller
Journal:  Neurology       Date:  2005-04-26       Impact factor: 9.910

3.  3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset.

Authors:  M Eriguchi; H Mizuta; K Kurohara; M Kosugi; Y Yakushiji; R Okada; M Yukitake; Y Hasegawa; S Yamaguchi; Y Kuroda
Journal:  Neurology       Date:  2006-11-28       Impact factor: 9.910

Review 4.  [Adult onset hereditary leukoencephalopathies].

Authors:  F Sedel; A Tourbah; N Baumann; B Fontaine; P Aubourg; C Lubetzki; O Lyon-Caen
Journal:  Rev Neurol (Paris)       Date:  2005-10       Impact factor: 2.607

5.  Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia.

Authors:  S Kasim; L R Moo; J Zschocke; H A Jinnah
Journal:  J Neurol Neurosurg Psychiatry       Date:  2001-12       Impact factor: 10.154

Review 6.  Adult-onset leukodystrophies.

Authors:  N Baumann; J C Turpin
Journal:  J Neurol       Date:  2000-10       Impact factor: 4.849

7.  Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging.

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Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-05       Impact factor: 10.154

8.  Brain MRI changes in phenylketonuria. Associations with dietary status.

Authors:  A J Thompson; S Tillotson; I Smith; B Kendall; S G Moore; D P Brenton
Journal:  Brain       Date:  1993-08       Impact factor: 13.501

9.  MR imaging and proton MR spectroscopy in adult Krabbe disease.

Authors:  L Farina; A Bizzi; G Finocchiaro; D Pareyson; A Sghirlanzoni; B Bertagnolio; M Savoiardo; S Naidu; B S Singhal; D A Wenger
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10.  Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance.

Authors:  M Cristina Bianchi; Michela Tosetti; Roberta Battini; Maria L Manca; Michelangelo Mancuso; Giovanni Cioni; Raffaello Canapicchi; Gabriele Siciliano
Journal:  AJNR Am J Neuroradiol       Date:  2003 Nov-Dec       Impact factor: 3.825

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  14 in total

1.  Neurometabolic disorders.

Authors:  Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2009-10       Impact factor: 4.982

Review 2.  Alzheimer's disease is not "brain aging": neuropathological, genetic, and epidemiological human studies.

Authors:  Peter T Nelson; Elizabeth Head; Frederick A Schmitt; Paulina R Davis; Janna H Neltner; Gregory A Jicha; Erin L Abner; Charles D Smith; Linda J Van Eldik; Richard J Kryscio; Stephen W Scheff
Journal:  Acta Neuropathol       Date:  2011-04-24       Impact factor: 17.088

Review 3.  [Demyelinating disorders].

Authors:  T Weber; W Köhler
Journal:  Nervenarzt       Date:  2010-04       Impact factor: 1.214

4.  Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images.

Authors:  Wai-Yung Yu; Zheyu Xu; Hwei-Yee Lee; Aya Tokumaru; Jeanne M M Tan; Adeline Ng; Shigeo Murayama; C C Tchoyoson Lim
Journal:  Neuroradiology       Date:  2019-07-11       Impact factor: 2.804

Review 5.  Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.

Authors:  James D Weisfeld-Adams; Ilana B Katz Sand; Justin M Honce; Fred D Lublin
Journal:  Brain       Date:  2015-01-29       Impact factor: 13.501

Review 6.  Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.

Authors:  Kirk Kleinfeld; Bret Mobley; Peter Hedera; Adam Wegner; Subramaniam Sriram; Siddharama Pawate
Journal:  J Neurol       Date:  2012-09-30       Impact factor: 4.849

Review 7.  Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

Authors:  Ettore Salsano; Laura Farina; Costanza Lamperti; Giuseppe Piscosquito; Franco Salerno; Lucia Morandi; Franco Carrara; Eleonora Lamantea; Massimo Zeviani; Graziella Uziel; Mario Savoiardo; Davide Pareyson
Journal:  J Neurol       Date:  2013-01-29       Impact factor: 4.849

Review 8.  Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids.

Authors:  Elisabeth Maillart; Audrey Rousseau; Damien Galanaud; Françoise Gray; Marc Polivka; Pierre Labauge; Jean-Jacques Hauw; Olivier Lyon-Caen; Olivier Gout; Frédéric Sedel
Journal:  J Neurol       Date:  2009-05-21       Impact factor: 4.849

9.  Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).

Authors:  F Mochel; F Sedel; A Vanderver; U F H Engelke; J Barritault; B Z Yang; B Kulkarni; D R Adams; F Clot; J H Ding; C R Kaneski; F W Verheijen; B W Smits; F Seguin; A Brice; M T Vanier; M Huizing; R Schiffmann; A Durr; R A Wevers
Journal:  Brain       Date:  2009-01-19       Impact factor: 13.501

10.  Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

Authors:  Rabab Debs; Roseline Froissart; Patrick Aubourg; Caroline Papeix; Claire Douillard; Bertrand Degos; Bertrand Fontaine; Bertrand Audoin; Arnaud Lacour; Gérard Said; Marie T Vanier; Frédéric Sedel
Journal:  J Inherit Metab Dis       Date:  2012-11-30       Impact factor: 4.982

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