Early detection of skin and muscular involvement in lafora disease

Sandro Iannaccone, Marco Zucconi, Angelo Quattrini, Raffaello Nemni, Mauro Comola, Luca Taccagni, Salvatore Smirne

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus epilepsy, EEG abnormalities and LBs in muscle and in skin tissue, without dementia. The findings suggest that the diagnosis of LD by skin and muscular biopsy is possible in the early stage of the disease, when there are myoclonic epilepsy and EEG abnormalities, before the onset of dementia.

Original languageEnglish
Pages (from-to)217-220
Number of pages4
JournalJournal of Neurology
Volume238
Issue number4
DOIs
Publication statusPublished - Jul 1991

Fingerprint

Lafora Disease
Myoclonic Epilepsy
Dementia
Electroencephalography
Skin
Muscles
Biopsy

Keywords

  • Dementia
  • Lafora bodies
  • Lafora disease
  • Myoclonus epilepsy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Early detection of skin and muscular involvement in lafora disease. / Iannaccone, Sandro; Zucconi, Marco; Quattrini, Angelo; Nemni, Raffaello; Comola, Mauro; Taccagni, Luca; Smirne, Salvatore.

In: Journal of Neurology, Vol. 238, No. 4, 07.1991, p. 217-220.

Research output: Contribution to journalArticle

@article{d1c5da5a422740bcbd6a32b5f6a97aa0,
title = "Early detection of skin and muscular involvement in lafora disease",
abstract = "Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus epilepsy, EEG abnormalities and LBs in muscle and in skin tissue, without dementia. The findings suggest that the diagnosis of LD by skin and muscular biopsy is possible in the early stage of the disease, when there are myoclonic epilepsy and EEG abnormalities, before the onset of dementia.",
keywords = "Dementia, Lafora bodies, Lafora disease, Myoclonus epilepsy",
author = "Sandro Iannaccone and Marco Zucconi and Angelo Quattrini and Raffaello Nemni and Mauro Comola and Luca Taccagni and Salvatore Smirne",
year = "1991",
month = "7",
doi = "10.1007/BF00314784",
language = "English",
volume = "238",
pages = "217--220",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "Dr. Dietrich Steinkopff Verlag GmbH and Co. KG",
number = "4",

}

TY - JOUR

T1 - Early detection of skin and muscular involvement in lafora disease

AU - Iannaccone, Sandro

AU - Zucconi, Marco

AU - Quattrini, Angelo

AU - Nemni, Raffaello

AU - Comola, Mauro

AU - Taccagni, Luca

AU - Smirne, Salvatore

PY - 1991/7

Y1 - 1991/7

N2 - Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus epilepsy, EEG abnormalities and LBs in muscle and in skin tissue, without dementia. The findings suggest that the diagnosis of LD by skin and muscular biopsy is possible in the early stage of the disease, when there are myoclonic epilepsy and EEG abnormalities, before the onset of dementia.

AB - Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus epilepsy, EEG abnormalities and LBs in muscle and in skin tissue, without dementia. The findings suggest that the diagnosis of LD by skin and muscular biopsy is possible in the early stage of the disease, when there are myoclonic epilepsy and EEG abnormalities, before the onset of dementia.

KW - Dementia

KW - Lafora bodies

KW - Lafora disease

KW - Myoclonus epilepsy

UR - http://www.scopus.com/inward/record.url?scp=0025914175&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025914175&partnerID=8YFLogxK

U2 - 10.1007/BF00314784

DO - 10.1007/BF00314784

M3 - Article

VL - 238

SP - 217

EP - 220

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 4

ER -