Literature DB >> 2056315

Late onset Krabbe's leukodystrophy: a report of four cases.

M Phelps1, J Aicardi, M T Vanier.   

Abstract

Four cases of late-onset Krabbe's leukodystrophy had varying clinical features. One sibling became wheelchair-bound while another leads an active working life. The computed tomography (CT) scan of a third patient showed occipital demyelination with contrast enhancement identical to that seen in an adrenoleucodystrophy. The fourth was the only patient with peripheral neuropathy. All patients had enzyme activity comparable to the classic infantile-onset form.

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Year:  1991        PMID: 2056315      PMCID: PMC488481          DOI: 10.1136/jnnp.54.4.293

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  12 in total

1.  [Electron microscopic study of a peripheral nerve in a case of Krabbe's leukodystrophy].

Authors:  G Lyon; L Jardin; J Aicardi
Journal:  J Neurol Sci       Date:  1971-03       Impact factor: 3.181

2.  Ultrastructural study of a peripheral nerve biopsy in Refsum's disease.

Authors:  M Fardeau; W K Engel
Journal:  J Neuropathol Exp Neurol       Date:  1969-04       Impact factor: 3.685

3.  [Juvenile form of globoid cell leukodystrophy].

Authors:  F Hanefeld; J Wilson; L Crome
Journal:  Monatsschr Kinderheilkd       Date:  1973-07

4.  Late onset globoid cell leucodystrophy.

Authors:  L Crome; F Hanefeld; D Patrick; J Wilson
Journal:  Brain       Date:  1973-12       Impact factor: 13.501

5.  [Infantile and late-onset type of globoid cell leucodystrophy in one family (author's transl)].

Authors:  H Böhles; R Schlenk; K Harzer
Journal:  Monatsschr Kinderheilkd       Date:  1981-05       Impact factor: 0.323

6.  Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form.

Authors:  M C Loonen; O P Van Diggelen; H C Janse; W J Kleijer; W F Arts
Journal:  Neuropediatrics       Date:  1985-08       Impact factor: 1.947

7.  Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase.

Authors:  K Suzuki; Y Suzuki
Journal:  Proc Natl Acad Sci U S A       Date:  1970-06       Impact factor: 11.205

8.  Prenatal diagnosis of Krabbe disease.

Authors:  M T Vanier; L Svennerholm; J E Månsson; G Håkansson; A Boué; J Lindsten
Journal:  Clin Genet       Date:  1981-08       Impact factor: 4.438

9.  Use of leukocytes in diagnosis of Krabbe disease and detection of carriers.

Authors:  L Svennerholm; M T Vanier; G Häkansson; J E Mänsson
Journal:  Clin Chim Acta       Date:  1981-05       Impact factor: 3.786

10.  Adrenoleukodystrophy--its diverse CT appearances and an evolutive or phenotypic variant: the leukodystrophy without adrenal insufficiency.

Authors:  P Aubourg; C Diebler
Journal:  Neuroradiology       Date:  1982       Impact factor: 2.804

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  9 in total

1.  Peripheral neuropathy in late-onset Krabbe disease: report of three cases.

Authors:  A Malandrini; C D'Eramo; S Palmeri; C Gaudiano; S Gambelli; F Sicurelli; G Berti; P Formichi; A Kuqo; M T Dotti; A Federico
Journal:  Neurol Sci       Date:  2012-01-25       Impact factor: 3.307

2.  Clinical onset and MRI features of Krabbe's disease in adolescence.

Authors:  R Kapoor; W I McDonald; A Crockard; I F Moseley
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-04       Impact factor: 10.154

Review 3.  A microglial hypothesis of globoid cell leukodystrophy pathology.

Authors:  Alexandra M Nicaise; Ernesto R Bongarzone; Stephen J Crocker
Journal:  J Neurosci Res       Date:  2016-11       Impact factor: 4.164

Review 4.  Krabbe Disease in the Arab World.

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

5.  Intracranial and spinal MR imaging findings associated with Krabbe's disease: case report.

Authors:  C A Given; C C Santos; D D Durden
Journal:  AJNR Am J Neuroradiol       Date:  2001-10       Impact factor: 3.825

6.  "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

Review 7.  The inherited leukodystrophies: a clinical overview.

Authors:  J Aicardi
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

8.  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

Review 9.  A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.

Authors:  Guode Wu; Zhenhua Li; Jing Li; Xin Li; Manxia Wang; Jing Zhang; Guangyao Liu; Pengfei Zhang
Journal:  Front Neurosci       Date:  2022-09-07       Impact factor: 5.152

  9 in total

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