Literature DB >> 22274816

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

A Malandrini1, C D'Eramo, S Palmeri, C Gaudiano, S Gambelli, F Sicurelli, G Berti, P Formichi, A Kuqo, M T Dotti, A Federico.   

Abstract

Late-onset Krabbe disease may have variable misleading clinical manifestations and be a puzzling problem for physicians. We report clinical and peripheral nerve studies of three patients with adult-onset Krabbe disease. Two cases had a predominantly spastic paraparesis; in one case, the symptoms mimicked a cerebrovascular disorder. Predominantly, demyelinating neuropathy was observed in one case and axonal neuropathy in two cases. In all cases, no typical intracytoplasmic inclusions were found. These observations suggest that peripheral neuropathy in adult-onset Krabbe disease has variable clinical and pathological characteristics, different from those described in the classic form.

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Year:  2012        PMID: 22274816     DOI: 10.1007/s10072-012-0956-6

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  12 in total

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

Authors:  M Phelps; J Aicardi; M T Vanier
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-04       Impact factor: 10.154

Review 2.  Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination.

Authors:  J I Satoh; H Tokumoto; K Kurohara; M Yukitake; M Matsui; Y Kuroda; T Yamamoto; H Furuya; N Shinnoh; T Kobayashi; Y Kukita; K Hayashi
Journal:  Neurology       Date:  1997-11       Impact factor: 9.910

3.  Peripheral neuropathy in late-onset Krabbe's disease: histochemical and ultrastructural findings.

Authors:  R Matsumoto; N Oka; Y Nagahama; I Akiguchi; J Kimura
Journal:  Acta Neuropathol       Date:  1996-12       Impact factor: 17.088

4.  Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization.

Authors:  N Sakai; H Fukushima; K Inui; L Fu; T Nishigaki; I Yanagihara; N Tatsumi; K Ozono; S Okada
Journal:  Biochim Biophys Acta       Date:  1998-01-07

5.  Molecular basis of late-life globoid cell leukodystrophy.

Authors:  R De Gasperi; M A Gama Sosa; E Sartorato; S Battistini; S Raghavan; E H Kolodny
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

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

Authors:  N P S Bajaj; A Waldman; R Orrell; N W Wood; K P Bhatia
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-05       Impact factor: 10.154

7.  Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.

Authors:  P Luzi; M A Rafi; D A Wenger
Journal:  Ann Neurol       Date:  1996-07       Impact factor: 10.422

8.  A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.

Authors:  M A Rafi; P Luzi; Y Q Chen; D A Wenger
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

Review 9.  Symptomatology of late onset Krabbe's leukodystrophy: the European experience.

Authors:  G Lyon; B Hagberg; P Evrard; C Allaire; L Pavone; M Vanier
Journal:  Dev Neurosci       Date:  1991       Impact factor: 2.984

10.  Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease.

Authors:  M Sabatelli; L Quaranta; F Madia; G Lippi; A Conte; M Lo Monaco; G Di Trapani; M A Rafi; D A Wenger; A M Vaccaro; P Tonali
Journal:  Neuromuscul Disord       Date:  2002-05       Impact factor: 4.296

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  7 in total

1.  Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy.

Authors:  Liana Africa; Maria Margollicci; Simona Salvatore; Bita Shalbafan; Luana Peruzzi; Mansoureh Togha; Vincenzo Sorrentino; Antonio Federico
Journal:  Neurol Sci       Date:  2017-05-25       Impact factor: 3.307

2.  Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation.

Authors:  José Tomás; João Durães; Lúcia Lacerda; Maria Carmo Macário
Journal:  BMJ Case Rep       Date:  2015-09-22

3.  A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.

Authors:  Feyza Nur Tuncer; Sibel Aylin Ugur Iseri; Zuhal Yapici; Mahmut Demir; Meryem Karaca; Mustafa Calik
Journal:  Neurol Sci       Date:  2018-09-12       Impact factor: 3.307

4.  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 5.  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

6.  Ceramide Accumulation Is Associated with Declining Verbal Memory in Coronary Artery Disease Patients: An Observational Study.

Authors:  Parco Chan; Mahwesh Saleem; Nathan Herrmann; Michelle M Mielke; Norman J Haughey; Paul I Oh; Alexander Kiss; Krista L Lanctôt
Journal:  J Alzheimers Dis       Date:  2018       Impact factor: 4.160

7.  Enlargement of the brachial plexus on magnetic resonance imaging: a novel finding in adult-onset Krabbe disease.

Authors:  Takashi Hiyama; Tomohiko Masumoto; Tadashi Hara; Akira Kunimatsu; Naomi Mamada; Nakamagoe Kiyotaka; Minami Manabu
Journal:  BJR Case Rep       Date:  2016-07-28
  7 in total

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