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

Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy. / Tinuper, P.; Plazzi, G.; Monari, L.; Sangiorgi, S.; Pellissier, J. F.; Cerullo, A.; Provini, F.; Capellari, S.; Baruzzi, A.; Lugaresi, E.; Montagna, P.

In: Epilepsia, Vol. 35, No. 2, 1994, p. 332-335.

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

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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.

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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.

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

Abstract

Keywords

ASJC Scopus subject areas

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