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.
authors.affiliation: Department of Neurology, University of Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Iannaccone
authors.forename: M
authors.initials: M
authors.lastname: Zucconi
authors.forename: A
authors.initials: A
authors.lastname: Quattrini
authors.forename: R
authors.initials: R
authors.lastname: Nemni
authors.forename: M
authors.initials: M
authors.lastname: Comola
authors.forename: L
authors.initials: L
authors.lastname: Taccagni
authors.forename: S
authors.initials: S
authors.lastname: Smirne
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002648:Child; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000473:pathology* / Q000503:physiopathology; D005190:Family; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007361:Intelligence Tests; D008297:Male; D009135:Muscular Diseases / Q000473:pathology*; D009460:Neurologic Examination; D012871:Skin Diseases / Q000473:pathology*; D012890:Sleep / Q000502:physiology; D012895:Sleep, REM / Q000502:physiology; D013497:Sural Nerve / Q000473:pathology