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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. 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. Epilepsia (1994) [Pubmed]
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