Unusual Presentation of Lafora's Disease-Reference-Cited by-同舟云学术

Unusual Presentation of Lafora's Disease

Published:2003-07 Issue:7 Volume:18 Page:499-501
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Al Otaibi Suad F.¹,Minassian Berge A.²,Ackerley Cameron A.³,Logan William J.⁴,Weiss Shelly⁵

Affiliation:

1. Division of Neurology, Department of Paediatrics, Toronto, Ontario

2. Division of Neurology, Department of Paediatrics, Toronto, Ontario,

3. Department of Pathology, Toronto, Ontario

4. Division of Neurology, Department of Paediatrics Hospital for Sick Children Toronto, Ontario, Toronto, Ontario

5. Division of Neurology, Department of Paediatrics Hospital for Sick Children Toronto, Ontario,

Abstract

Lafora's disease is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in seizure intractability. We present the case of a 16-year-old with precipitous dementia within 6 months of onset. Peripheral biopsies and EPM2A mutation analysis were negative. The diagnosis could be established only by brain biopsy. ( J Child Neurol 2003;18:499—501).

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/08830738030180070901

Reference18 articles.

1. Lafora’s disease: towards a clinical, pathologic, and molecular synthesis

2. Diagnosis of new variant Creutzfeldt-Jakob disease

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

4. Axilla skin biopsy: A reliable test for the diagnosis of Lafora's disease

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease;International Journal of Molecular Sciences;2020-10-20

2. FDG-PET assessment and metabolic patterns in Lafora disease;European Journal of Nuclear Medicine and Molecular Imaging;2019-12-19

3. Soccer Player With Unusual Presentation of Asymptomatic Lafora Body Disease of Liver;American Journal of Gastroenterology;2017-10

4. Broad Spectrum of Hepatocyte Inclusions in Humans, Animals, and Experimental Models;Comprehensive Physiology;2013-10-22

5. Lafora Disease;CNS Drugs;2010-07