Literature DB >> 6796905

Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy.

S Carpenter, G Karpati.   

Abstract

Skin biopsies of three patients with Lafora disease (clinically typical and proven by liver biopsy) showed PAS-positive inclusions in numerous peripheral cells of eccrine sweat ducts. By electronmicroscopy, the inclusions consisted of polyglucosan-type material; they were not bounded by a membrane. Skin biopsy should be a convenient method of diagnosing Lafora disease.

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Year:  1981        PMID： 6796905     DOI： 10.1212/wnl.31.12.1564

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  21 in total

Review 1.  Lafora disease: epidemiology, pathophysiology and management.

Authors:  Thomas S Monaghan; Norman Delanty
Journal:  CNS Drugs       Date:  2010-07       Impact factor: 5.749

2.  Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

Authors:  Matthew S Gentry; Carolyn A Worby; Jack E Dixon
Journal:  Proc Natl Acad Sci U S A       Date:  2005-06-01       Impact factor: 11.205

3.  Identification of a recombination event narrowing the Lafora disease gene region.

Authors:  L O Maddox; M Descartes; J Collins; J Keating; S Rosenfeld; C Palmer; A J Carroll; R Kuzniecky
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

Review 4.  [Lafora disease: a review of the literature].

Authors:  L Desdentado; R Espert; P Sanz; J Tirapu-Ustarroz
Journal:  Rev Neurol       Date:  2019-01-16       Impact factor: 0.870

5.  Progressive myoclonic epilepsy (Unverricht type) with atypical Lafora bodies. Case report.

Authors:  F C Grahmann; R C Janzer; A Hecker; M Egli; P C Burger
Journal:  Eur Arch Psychiatry Neurol Sci       Date:  1986

6.  Diagnosis of Lafora Disease by Skin Biopsy.

Authors:  Prasath Sathiah; Debasis Gochhait; Priyadarshini Dehuri; Hema Subramanian
Journal:  J Clin Diagn Res       Date:  2017-09-01

7.  Occurrence of polyglucosan bodies in temporal lobe epilepsy.

Authors:  H Loiseau; C Marchal; A Vital; C Vital; A Rougier; P Loiseau
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-11       Impact factor: 10.154

8.  Early-onset Lafora body disease.

Authors:  Julie Turnbull; Jean-Marie Girard; Hannes Lohi; Elayne M Chan; Peixiang Wang; Erica Tiberia; Salah Omer; Mushtaq Ahmed; Christopher Bennett; Aruna Chakrabarty; Atul Tyagi; Yan Liu; Nela Pencea; XiaoChu Zhao; Stephen W Scherer; Cameron A Ackerley; Berge A Minassian
Journal:  Brain       Date:  2012-09       Impact factor: 13.501

9.  Early detection of skin and muscular involvement in Lafora disease.

Authors:  S Iannaccone; M Zucconi; A Quattrini; R Nemni; M Comola; L Taccagni; S Smirne
Journal:  J Neurol       Date:  1991-07       Impact factor: 4.849

10.  Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.

Authors:  M Traoré; G Landouré; W Motley; M Sangaré; K Meilleur; S Coulibaly; S Traoré; B Niaré; F Mochel; A La Pean; A Vortmeyer; H Mani; K H Fischbeck
Journal:  Neurogenetics       Date:  2009-03-26       Impact factor: 2.660
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