PME
MCID: PRG011
MIFTS: 39

Progressive Myoclonus Epilepsy (PME) malady

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Progressive Myoclonus Epilepsy

Aliases & Descriptions for Progressive Myoclonus Epilepsy:

Name: Progressive Myoclonus Epilepsy 12 14
Familial Progressive Myoclonic Epilepsy 50 69
Progressive Myoclonic Epilepsy 12 50
Progressive Myoclonic Epilepsy [ambiguous] 12
Myoclonic Epilepsies, Progressive 69
Unverricht-Lundborg Syndrome 69
Pme 12

Classifications:



External Ids:

Disease Ontology 12 DOID:891
MeSH 42 D020191
NCIt 47 C7636
UMLS 69 C0751778

Summaries for Progressive Myoclonus Epilepsy

NIH Rare Diseases : 50 progressive myoclonus epilepsy (pme) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. these diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). pme is different from myoclonic epilepsy. other features include dementia, dystonia, and trouble walking or speaking. these rare disorders often get worse over time and sometimes are fatal. many of these pme diseases begin in childhood or adolescence. last updated: 5/19/2011

MalaCards based summary : Progressive Myoclonus Epilepsy, also known as familial progressive myoclonic epilepsy, is related to prickle1-related progressive myoclonus epilepsy with ataxia and progressive myoclonus epilepsy, lafora type, and has symptoms including myoclonus and ataxia. An important gene associated with Progressive Myoclonus Epilepsy is PRICKLE1 (Prickle Planar Cell Polarity Protein 1). The drugs Dopamine and Ropinirole have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related phenotypes are behavior/neurological and muscle

Wikipedia : 71 Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic... more...

Related Diseases for Progressive Myoclonus Epilepsy

Diseases in the Myoclonus Epilepsy family:

Progressive Myoclonus Epilepsy

Diseases related to Progressive Myoclonus Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 prickle1-related progressive myoclonus epilepsy with ataxia 12.4
2 progressive myoclonus epilepsy, lafora type 12.4
3 unverricht-lundborg syndrome 11.7
4 epilepsy, progressive myoclonic 2b 11.5
5 spinal muscular atrophy with progressive myoclonic epilepsy 11.5
6 gosr2-related progressive myoclonus ataxia 11.2
7 epilepsy, progressive myoclonic 5 11.1
8 epilepsy, progressive myoclonic 3, with or without intracellular inclusions 11.1
9 epilepsy, progressive myoclonic 6 11.1
10 epilepsy, progressive myoclonic 1a 11.1
11 epilepsy, progressive myoclonic 4, with or without renal failure 11.0
12 epilepsy, progressive myoclonic 7 11.0
13 epilepsy, progressive myoclonic 1b 11.0
14 epileptic encephalopathy, early infantile, 16 11.0
15 epilepsy, progressive myoclonic, 9 11.0
16 epilepsy, progressive myoclonic, 8 11.0
17 epm2a-related lafora disease 11.0
18 nhlrc1-related lafora disease 11.0
19 epilepsy 10.9
20 myoclonus epilepsy 10.9
21 myoclonus 10.9
22 epilepsy, progressive myoclonic 10 10.9
23 ataxia 10.2
24 scn1a-related seizure disorders 10.2 EPM2A NHLRC1
25 neuronitis 10.1
26 brachydactyly type a3 10.1 CSTB TRAPPC10
27 autosomal recessive myogenic arthrogryposis multiplex congenita 10.0 EPM2A NHLRC1 PRDM8
28 glomerulosclerosis, focal segmental, 2 10.0 CLN6 KCTD7
29 transaldolase deficiency 10.0 CLN6 KCTD7
30 bleeding disorder, platelet-type, 16, autosomal dominant 9.9 CLN6 KCTD7
31 neuropathy 9.9
32 encephalopathy 9.9
33 medulloblastoma 9.9 CLN6 KCTD7
34 friedreich ataxia 9.7
35 fragile x syndrome 9.7
36 neuronal ceroid-lipofuscinoses 9.7
37 glycogen storage disease 9.7
38 hepatitis 9.7
39 congenital generalized lipodystrophy 9.7
40 dementia 9.7
41 down syndrome 9.7
42 status epilepticus 9.7
43 myopathy 9.7
44 lipodystrophy 9.7
45 myotonic dystrophy 9.7
46 myosin storage myopathy 9.7 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
47 atypical choroid plexus papilloma 9.7 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
48 leukodystrophy, hypomyelinating, 11 9.7 CSTB EPM2A GBE1 NHLRC1 PRDM8
49 overuse syndrome 9.7 CSTB EPM2A KCTD7 NHLRC1 PRICKLE1 SCARB2
50 mononeuritis multiplex 9.7 CSTB EPM2A KCTD7 NHLRC1 PRICKLE1 SCARB2

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy:



Diseases related to Progressive Myoclonus Epilepsy

Symptoms & Phenotypes for Progressive Myoclonus Epilepsy

UMLS symptoms related to Progressive Myoclonus Epilepsy:


myoclonus, ataxia

MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 PRICKLE1 SCARB2 SERPINI1 CLN6 CSTB EPM2A
2 muscle MP:0005369 9.43 CSTB EPM2A EPM2AIP1 GBE1 NHLRC1 PRICKLE1
3 nervous system MP:0003631 9.28 CLN6 CSTB EPM2A GBE1 NHLRC1 PRDM8

Drugs & Therapeutics for Progressive Myoclonus Epilepsy

Drugs for Progressive Myoclonus Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
3
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
4 Antiparkinson Agents Phase 2
5 Dopamine Agents Phase 2
6 Dopamine agonists Phase 2
7 Neurotransmitter Agents Phase 2
8 HIV Protease Inhibitors
9 Neuroserpin
10
protease inhibitors
11 Serine Proteinase Inhibitors
12 insulin
13 Insulin, Globin Zinc
14 serine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and Adults Completed NCT00368251 Phase 3
2 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults Completed NCT00357669 Phase 3
3 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2
4 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2
5 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
6 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
7 Ketogenic Diet in Lafora Disease Completed NCT00007124
8 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
9 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Progressive Myoclonus Epilepsy

Genetic Tests for Progressive Myoclonus Epilepsy

Anatomical Context for Progressive Myoclonus Epilepsy

MalaCards organs/tissues related to Progressive Myoclonus Epilepsy:

39
Brain, Cortex

Publications for Progressive Myoclonus Epilepsy

Articles related to Progressive Myoclonus Epilepsy:

(show top 50) (show all 213)
id Title Authors Year
1
KCTD7-related progressive myoclonus epilepsy. ( 27629772 )
2016
2
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
3
The history of progressive myoclonus epilepsies. ( 27621064 )
2016
4
FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy. ( 27107699 )
2016
5
GOSR2: a progressive myoclonus epilepsy gene. ( 27618868 )
2016
6
Brain inflammation is accompanied by peripheral inflammation in Cstb (-/-) mice, a model for progressive myoclonus epilepsy. ( 27894304 )
2016
7
Post-modern therapeutic approaches for progressive myoclonus epilepsy. ( 27630083 )
2016
8
Progressive myoclonus epilepsy associated with SACS gene mutations. ( 27433545 )
2016
9
Progressive Myoclonus Epilepsy: The Gene-Empowered Era. ( 27694067 )
2016
10
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. ( 27618929 )
2016
11
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). ( 27618835 )
2016
12
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ( 25954030 )
2015
13
Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy. ( 25680286 )
2015
14
GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. ( 26552558 )
2015
15
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. ( 25327891 )
2014
16
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. ( 25401298 )
2014
17
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. ( 24782409 )
2014
18
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced I^-glucocerebrosidase activity. ( 24485911 )
2014
19
Progressive myoclonus epilepsy in Down syndrome patients with dementia. ( 24893590 )
2014
20
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. ( 25060828 )
2014
21
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. ( 23659519 )
2013
22
Progressive myoclonus epilepsy. ( 23622396 )
2013
23
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. ( 23601850 )
2013
24
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. ( 23325613 )
2013
25
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. ( 24262466 )
2013
26
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. ( 24063889 )
2013
27
Hashimoto encephalopathy presenting as progressive myoclonus epilepsy syndrome. ( 22840275 )
2013
28
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. ( 23138527 )
2013
29
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. ( 22703635 )
2013
30
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. ( 23449775 )
2013
31
TMS-EEG reveals impaired intracortical interactions and coherence in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). ( 23642573 )
2013
32
White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice. ( 23788720 )
2013
33
Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1. ( 22157618 )
2012
34
Lafora progressive myoclonus epilepsy: glycogen storage disease vs neurodegenerative disease. ( 22622859 )
2012
35
Deciphering the role of malin in the lafora progressive myoclonus epilepsy. ( 22815132 )
2012
36
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. ( 22693283 )
2012
37
Progressive myoclonus epilepsy of Lafora ( 22787674 )
2012
38
Lafora progressive myoclonus epilepsy: recent insights into cell degeneration. ( 22369717 )
2012
39
Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. ( 22883287 )
2012
40
Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers? ( 22456482 )
2012
41
Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy. ( 22036712 )
2012
42
Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8. ( 22581592 )
2012
43
Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses ( 22787658 )
2012
44
Impaired autophagy: a link between neurodegenerative diseases and progressive myoclonus epilepsies. ( 21482188 )
2011
45
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. ( 21549339 )
2011
46
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. ( 21670406 )
2011
47
Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene. ( 21435071 )
2011
48
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings. ( 21782476 )
2011
49
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism. ( 21505799 )
2011
50
Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations. ( 22050460 )
2011

Variations for Progressive Myoclonus Epilepsy

Expression for Progressive Myoclonus Epilepsy

Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy.

Pathways for Progressive Myoclonus Epilepsy

GO Terms for Progressive Myoclonus Epilepsy

Biological processes related to Progressive Myoclonus Epilepsy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 glycogen metabolic process GO:0005977 9.16 EPM2A GBE1
2 intra-Golgi vesicle-mediated transport GO:0006891 8.96 GOSR2 TRAPPC10
3 glycogen biosynthetic process GO:0005978 8.8 EPM2A GBE1 NHLRC1

Sources for Progressive Myoclonus Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....