TY - JOUR
T1 - Advances in the genetics of progressive myoclonus epilepsy
AU - Torrisi, Loredana
AU - Sangiorgi, Eugenio
AU - Russo, Lisa
AU - Gurrieri, Fiorella
PY - 2001
Y1 - 2001
N2 - The genetic progressive myoclonus epilepsies (PMEs) are clinically characterized by the triad of stimulus sensitive myoclonus (segmental lightning like muscular jerks), epilepsy (grand mal and absences) and progressive neurologic deterioration (dementia, ataxia, and various neurologic signs depending on the cause). Etiologically heterogenous, PMEs are rare and mostly autosomal recessive disorders, with the exception of autosomal dominant dentatorubral-pallidoluysian atrophy and mitochondrial encephalomyopathy with ragged red fibers (MERRF). In the last five years, specific mutations have been defined in Lafora disease (gene for laforin or dual specificity phosphatase in 6q24), Unverricht-Lundborg disease (cystatin B in 21q22.3), Jansky-Bielschowsky ceroid lipofuscinoses (CLN2 gene for tripeptidyl peptidase 1 in 11q15), Finnish variant of late infantile ceroid lipofuscinoses (CLN5 gene in 13q21-32 encodes 407 amino acids with two transmembrane helices of unknown function), juvenile ceroid lipofuscinoses or Batten disease (CLN3 gene in 16p encodes 438 amino acid protein of unknown function), a subtype of Batten disease and infantile ceroid lipofuscinoses of the Haltia-Santavuori type (both are caused by mutations in palmitoyl-protein thiosterase gene at 1p32), dentadorubropallidoluysian atrophy (CAG repeats in a gene in 12p13.31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA). In this review, we cover mainly these rapid advances. © 2001 Wiley-Liss, Inc.
AB - The genetic progressive myoclonus epilepsies (PMEs) are clinically characterized by the triad of stimulus sensitive myoclonus (segmental lightning like muscular jerks), epilepsy (grand mal and absences) and progressive neurologic deterioration (dementia, ataxia, and various neurologic signs depending on the cause). Etiologically heterogenous, PMEs are rare and mostly autosomal recessive disorders, with the exception of autosomal dominant dentatorubral-pallidoluysian atrophy and mitochondrial encephalomyopathy with ragged red fibers (MERRF). In the last five years, specific mutations have been defined in Lafora disease (gene for laforin or dual specificity phosphatase in 6q24), Unverricht-Lundborg disease (cystatin B in 21q22.3), Jansky-Bielschowsky ceroid lipofuscinoses (CLN2 gene for tripeptidyl peptidase 1 in 11q15), Finnish variant of late infantile ceroid lipofuscinoses (CLN5 gene in 13q21-32 encodes 407 amino acids with two transmembrane helices of unknown function), juvenile ceroid lipofuscinoses or Batten disease (CLN3 gene in 16p encodes 438 amino acid protein of unknown function), a subtype of Batten disease and infantile ceroid lipofuscinoses of the Haltia-Santavuori type (both are caused by mutations in palmitoyl-protein thiosterase gene at 1p32), dentadorubropallidoluysian atrophy (CAG repeats in a gene in 12p13.31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA). In this review, we cover mainly these rapid advances. © 2001 Wiley-Liss, Inc.
KW - Batten disease
KW - Cystatin B
KW - Cystatins
KW - Dentatorubral-pallidoluysian atrophy
KW - Genotype
KW - Humans
KW - Lafora Disease
KW - Lafora disease
KW - MERRF
KW - MERRF Syndrome
KW - Mutation
KW - Myoclonic Epilepsies, Progressive
KW - Neuronal Ceroid-Lipofuscinoses
KW - Phenotype
KW - Protein Tyrosine Phosphatases
KW - Protein Tyrosine Phosphatases, Non-Receptor
KW - Tripeptidyl-Peptidase 1
KW - Unverricht-Lundborg Syndrome
KW - Unverricht-Lundborg disease
KW - Batten disease
KW - Cystatin B
KW - Cystatins
KW - Dentatorubral-pallidoluysian atrophy
KW - Genotype
KW - Humans
KW - Lafora Disease
KW - Lafora disease
KW - MERRF
KW - MERRF Syndrome
KW - Mutation
KW - Myoclonic Epilepsies, Progressive
KW - Neuronal Ceroid-Lipofuscinoses
KW - Phenotype
KW - Protein Tyrosine Phosphatases
KW - Protein Tyrosine Phosphatases, Non-Receptor
KW - Tripeptidyl-Peptidase 1
KW - Unverricht-Lundborg Syndrome
KW - Unverricht-Lundborg disease
UR - http://hdl.handle.net/10807/191309
U2 - 10.1002/ajmg.1575
DO - 10.1002/ajmg.1575
M3 - Article
SN - 0148-7299
VL - 106
SP - 129
EP - 138
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
ER -