Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy

P. Tinuper; G. Plazzi; L. Monari; S. Sangiorgi; J. F. Pellissier; A. Cerullo; F. Provini; S. Capellari; A. Baruzzi; E. Lugaresi; P. Montagna

Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy

P. Tinuper, G. Plazzi, L. Monari, S. Sangiorgi, J. F. Pellissier, A. Cerullo, F. Provini, S. Capellari, A. Baruzzi, E. Lugaresi, P. Montagna

Istituto Scienze Neurologiche

Research output: Contribution to journal › Article › peer-review

Abstract

Since age 12 years, a 25-year-old woman had a syndrome with myoclonic epilepsy, cerebellar signs, and spontaneous myoclonus. Skin biopsy showed typical Lafora bodies (LB), but she lacked a progressive course and mental impairment, hallmarks of Lafora disease. Lysosomal enzyme assays showed low level arylsulfatase A (ASA) activity. DNA study disclosed a homozygous ASA Pd genotype. Both parents carried one Pd allele. The still-unknown relationship between the pathologic level of ASA activity and myoclonic epilepsies suggests introduction of ASA assays in patients with PME.

Original language	English
Pages (from-to)	332-335
Number of pages	4
Journal	Epilepsia
Volume	35
Issue number	2
Publication status	Published - 1994

Keywords

Arylsulfatase A pseudodeficiency
Epilepsy
Lafora bodies
Neurologic manifestations
Progressive myoclonic epilepsy

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)

Cite this

@article{d91cf028df6348e983225e0de8e200b2,

title = "Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy",

abstract = "Since age 12 years, a 25-year-old woman had a syndrome with myoclonic epilepsy, cerebellar signs, and spontaneous myoclonus. Skin biopsy showed typical Lafora bodies (LB), but she lacked a progressive course and mental impairment, hallmarks of Lafora disease. Lysosomal enzyme assays showed low level arylsulfatase A (ASA) activity. DNA study disclosed a homozygous ASA Pd genotype. Both parents carried one Pd allele. The still-unknown relationship between the pathologic level of ASA activity and myoclonic epilepsies suggests introduction of ASA assays in patients with PME.",

keywords = "Arylsulfatase A pseudodeficiency, Epilepsy, Lafora bodies, Neurologic manifestations, Progressive myoclonic epilepsy",

author = "P. Tinuper and G. Plazzi and L. Monari and S. Sangiorgi and Pellissier, {J. F.} and A. Cerullo and F. Provini and S. Capellari and A. Baruzzi and E. Lugaresi and P. Montagna",

year = "1994",

language = "English",

volume = "35",

pages = "332--335",

journal = "Epilepsia",

issn = "0013-9580",

publisher = "Blackwell Publishing Inc.",

number = "2",

}

TY - JOUR

T1 - Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy

AU - Tinuper, P.

AU - Plazzi, G.

AU - Monari, L.

AU - Sangiorgi, S.

AU - Pellissier, J. F.

AU - Cerullo, A.

AU - Provini, F.

AU - Capellari, S.

AU - Baruzzi, A.

AU - Lugaresi, E.

AU - Montagna, P.

PY - 1994

Y1 - 1994

N2 - Since age 12 years, a 25-year-old woman had a syndrome with myoclonic epilepsy, cerebellar signs, and spontaneous myoclonus. Skin biopsy showed typical Lafora bodies (LB), but she lacked a progressive course and mental impairment, hallmarks of Lafora disease. Lysosomal enzyme assays showed low level arylsulfatase A (ASA) activity. DNA study disclosed a homozygous ASA Pd genotype. Both parents carried one Pd allele. The still-unknown relationship between the pathologic level of ASA activity and myoclonic epilepsies suggests introduction of ASA assays in patients with PME.

AB - Since age 12 years, a 25-year-old woman had a syndrome with myoclonic epilepsy, cerebellar signs, and spontaneous myoclonus. Skin biopsy showed typical Lafora bodies (LB), but she lacked a progressive course and mental impairment, hallmarks of Lafora disease. Lysosomal enzyme assays showed low level arylsulfatase A (ASA) activity. DNA study disclosed a homozygous ASA Pd genotype. Both parents carried one Pd allele. The still-unknown relationship between the pathologic level of ASA activity and myoclonic epilepsies suggests introduction of ASA assays in patients with PME.

KW - Arylsulfatase A pseudodeficiency

KW - Epilepsy

KW - Lafora bodies

KW - Neurologic manifestations

KW - Progressive myoclonic epilepsy

UR - http://www.scopus.com/inward/record.url?scp=0028327738&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028327738&partnerID=8YFLogxK

M3 - Article

C2 - 7908874

AN - SCOPUS:0028327738

VL - 35

SP - 332

EP - 335

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - 2

ER -

Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy

Abstract

Keywords

ASJC Scopus subject areas

Other files and links

Fingerprint

Cite this