Literature DB >> 9449482

Adult onset Krabbe's leukodystrophy: a report of 2 cases.

M Turazzini1, A Beltramello, R Bassi, R Del Colle, M Silvestri.   

Abstract

Krabbe's disease with adult onset is rare; neurological symptoms begin in childhood or at a juvenile age. Two brothers with adult onset of the disease are here reported; 1 sibling developed parapareto-ataxic gait while the other was asymptomatic. Magnetic resonance imaging showed areas of demyelination in the white matter of the brain, while nerve conduction was completely normal. In both patients deficiency of galactosylceramide beta-galactosidase was comparable to the infantile form.

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Year:  1997        PMID: 9449482     DOI: 10.1111/j.1600-0404.1997.tb00308.x

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN: 0001-6314            Impact factor:   3.209


  7 in total

Review 1.  Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.

Authors:  Je-Seong Won; Avtar K Singh; Inderjit Singh
Journal:  J Neurosci Res       Date:  2016-11       Impact factor: 4.164

Review 2.  Krabbe Disease in the Arab World.

Authors:  Hatem Zayed
Journal:  J Pediatr Genet       Date:  2015-03

Review 3.  Diffusion-weighted MR imaging in leukodystrophies.

Authors:  Zoltan Patay
Journal:  Eur Radiol       Date:  2005-07-15       Impact factor: 5.315

4.  MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

Authors:  A Melberg; L Hallberg; H Kalimo; R Raininko
Journal:  AJNR Am J Neuroradiol       Date:  2006-04       Impact factor: 3.825

5.  "Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.

Authors:  Francesco Nicita; Fabrizia Stregapede; Federica Deodato; Simone Pizzi; Simone Martinelli; Daria Pagliara; Chiara Aiello; Francesca Cumbo; Fiorella Piemonte; Jessica D'Amico; Stefano Pro; Daniela Longo; Silvia Genovese; Marco Tartaglia; Maria L Escolar; Enrico Bertini; Lorena Travaglini
Journal:  Eur J Hum Genet       Date:  2022-05-17       Impact factor: 5.351

6.  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

7.  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
Journal:  AJNR Am J Neuroradiol       Date:  2000-09       Impact factor: 3.825

  7 in total

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