EPILESSIA MIOCLONICA NON PROGRESSIVA CON CORPI DI LAFORA E PSEUDODEFICIENZA DI ARILSULFATASI A

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

EPILESSIA MIOCLONICA NON PROGRESSIVA CON CORPI DI LAFORA E PSEUDODEFICIENZA DI ARILSULFATASI A

Translated title of the contribution: Arylsulphatase A (ASA) pseudodeficiency (PD) and Lafora bodies (LB) in a patient with non progressive myoclonic epilepsy

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

Istituto Scienze Neurologiche

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

Abstract

We report the case of a 25 yrs old girl with myoclonic epilepsy without progressive course and mental impairment. Skin biopsy showed typical LB. Lysosomal enzymes activity assays revealed low level of ASA and the DNA studies disclosed a homozygous ASA Pd/Pd genotype. Both parents carried one Pd allele. This is the second case reported with the link between low level of ASA activity and myoclonic epilepsy with LB.

Translated title of the contribution	Arylsulphatase A (ASA) pseudodeficiency (PD) and Lafora bodies (LB) in a patient with non progressive myoclonic epilepsy
Original language	Italian
Pages (from-to)	195-196
Number of pages	2
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	79-80
Publication status	Published - 1992

ASJC Scopus subject areas

Clinical Neurology

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EPILESSIA MIOCLONICA NON PROGRESSIVA CON CORPI DI LAFORA E PSEUDODEFICIENZA DI ARILSULFATASI A. / Plazzi, G.; Tinuper, P.; Monari, L.; Capellari, S.; Sangiorgi, S.; Montagna, P.; Provini, F.; Cerullo, A.; Pellissier, J. F.; Baruzzi, A.; Lugaresi, E.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 79-80, 1992, p. 195-196.

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

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abstract = "We report the case of a 25 yrs old girl with myoclonic epilepsy without progressive course and mental impairment. Skin biopsy showed typical LB. Lysosomal enzymes activity assays revealed low level of ASA and the DNA studies disclosed a homozygous ASA Pd/Pd genotype. Both parents carried one Pd allele. This is the second case reported with the link between low level of ASA activity and myoclonic epilepsy with LB.",

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

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language = "Italian",

pages = "195--196",

journal = "Bollettino - Lega Italiana contro l'Epilessia",

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AU - Plazzi, G.

AU - Tinuper, P.

AU - Monari, L.

AU - Capellari, S.

AU - Sangiorgi, S.

AU - Montagna, P.

AU - Provini, F.

AU - Cerullo, A.

AU - Pellissier, J. F.

AU - Baruzzi, A.

AU - Lugaresi, E.

PY - 1992

Y1 - 1992

N2 - We report the case of a 25 yrs old girl with myoclonic epilepsy without progressive course and mental impairment. Skin biopsy showed typical LB. Lysosomal enzymes activity assays revealed low level of ASA and the DNA studies disclosed a homozygous ASA Pd/Pd genotype. Both parents carried one Pd allele. This is the second case reported with the link between low level of ASA activity and myoclonic epilepsy with LB.

AB - We report the case of a 25 yrs old girl with myoclonic epilepsy without progressive course and mental impairment. Skin biopsy showed typical LB. Lysosomal enzymes activity assays revealed low level of ASA and the DNA studies disclosed a homozygous ASA Pd/Pd genotype. Both parents carried one Pd allele. This is the second case reported with the link between low level of ASA activity and myoclonic epilepsy with LB.

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