DRPLA
MCID: DNT005
MIFTS: 50

Dentatorubral-Pallidoluysian Atrophy (DRPLA)

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Dentatorubral-Pallidoluysian Atrophy

MalaCards integrated aliases for Dentatorubral-Pallidoluysian Atrophy:

Name: Dentatorubral-Pallidoluysian Atrophy 57 12 76 24 53 25 75 15 73
Drpla 57 12 24 53 25 59 75 55
Naito-Oyanagi Disease 57 12 25 59
Haw River Syndrome 57 12 53 25
Myoclonic Epilepsy with Choreoathetosis 57 53 25
Dentatorubral Pallidoluysian Atrophy 59 29 6
Dentatorubropallidoluysian Atrophy 53 59 37
Nod 57 53 25
Ataxia, Chorea, Seizures, and Dementia 57 53
Dentatorubro-Pallidoluysian Atrophy 57 13
Atrophy, Pallidoluysian, Dentatorubral 40
Myoclonic Epilepsies, Progressive 44
Naito-Oyanagi Disease; Nod 57
Haw River Syndrome; Hrs 57
Naito Oyanagi Disease 53
Hrs 57

Characteristics:

Orphanet epidemiological data:

59
dentatorubral pallidoluysian atrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation
mean age of onset 30 years (range first to seventh decade)
phenotypic heterogeneity


HPO:

32
dentatorubral-pallidoluysian atrophy:
Inheritance genetic anticipation autosomal dominant inheritance


GeneReviews:

24
Penetrance Expanded alleles are fully penetrant except for one individual with a mildly expanded number of cag repeats (51 repeats) who was asmptomatic at age 81 years [hattori et al 1999]...

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Dentatorubral-Pallidoluysian Atrophy

NIH Rare Diseases : 53 Dentatorubral-pallidoluysian atrophy (DRPLA) is a brain disorder that worsens over time. It can lead to involuntary movements, mental and emotional problems, and a decline in thinking ability. Symptoms usually appear around 30 years of age, but can occur anytime from infancy to mid-adulthood. Specific signs and symptoms may differ and include seizures, issues with balance and coordination (ataxia), and involuntary muscle jerking or twitching (myoclonus). Other symptoms that usually appear in adulthood include dementia and psychiatric conditions. DRPLA is caused by a mutation in the ATN1 gene and is inherited in an autosomal dominant manner. Although there is no specific treatment or cure for DRPLA, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.

MalaCards based summary : Dentatorubral-Pallidoluysian Atrophy, also known as drpla, is related to cerebellar degeneration and machado-joseph disease, and has symptoms including cerebellar ataxia, myoclonus and seizures. An important gene associated with Dentatorubral-Pallidoluysian Atrophy is ATN1 (Atrophin 1), and among its related pathways/superpathways is Akt Signaling. Affiliated tissues include brain, testes and endothelial, and related phenotypes are nystagmus and seizures

UniProtKB/Swiss-Prot : 75 Dentatorubral-pallidoluysian atrophy: Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth.

Genetics Home Reference : 25 Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that has material basis in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.

Wikipedia : 76 Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration... more...

Description from OMIM: 125370
GeneReviews: NBK1491

Related Diseases for Dentatorubral-Pallidoluysian Atrophy

Diseases related to Dentatorubral-Pallidoluysian Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 cerebellar degeneration 30.4 ATXN2 CACNA1A
2 machado-joseph disease 29.0 ATN1 ATXN2 ATXN3 ATXN7 CACNA1A
3 spinocerebellar ataxia 1 28.8 ATN1 ATXN3 ATXN7 CACNA1A HTT
4 huntington disease 28.1 ATN1 ATXN3 HTT JPH3 TBP
5 aceruloplasminemia 27.1 ATXN2 ATXN3 ATXN7 CACNA1A PPP2R2B TBP
6 autosomal dominant cerebellar ataxia 26.5 ATN1 ATXN2 ATXN3 ATXN7 CACNA1A HTT
7 myoclonic epilepsy of unverricht and lundborg 11.6
8 hepatorenal syndrome 11.3
9 unverricht-lundborg syndrome 11.2
10 progressive myoclonus epilepsy, lafora type 11.2
11 lymphoma, hodgkin, classic 11.2
12 hypotrichosis 4 11.2
13 atrichia with papular lesions 11.2
14 marie unna congenital hypotrichosis 11.0
15 ramer ladda syndrome 11.0
16 aspiration pneumonitis 10.9
17 neuronitis 10.6
18 epilepsy 10.4
19 cerebritis 10.4
20 myoclonus epilepsy 10.4
21 myoclonus 10.4
22 muscular atrophy 10.3
23 supranuclear palsy, progressive, 1 10.2
24 microcephaly 10.2
25 spinocerebellar degeneration 10.2 ATXN2 ATXN3
26 myoclonus and ataxia 10.1
27 aging 10.1
28 ataxia-oculomotor apraxia 3 10.1
29 cervical dystonia 10.1
30 status epilepticus 10.1
31 cervicitis 10.1
32 ganglioglioma 10.1
33 dystonia 10.1
34 paraplegia 10.1
35 central pontine myelinolysis 10.1
36 progressive myoclonus epilepsy 10.1
37 spasticity 10.1
38 tremor 10.1
39 endotheliitis 10.1
40 spinocerebellar ataxia 36 9.9 ATXN2 PPP2R2B
41 central nervous system disease 9.8 ATXN3 CACNA1A HTT
42 friedreich ataxia 1 9.8 ATXN2 ATXN3 CACNA1A
43 nervous system disease 9.8 ATXN3 CACNA1A HTT
44 huntington disease-like 2 9.7 HTT JPH3
45 olivopontocerebellar atrophy 9.7 ATXN2 ATXN7
46 spinocerebellar ataxia 7 9.6 ATXN2 ATXN7
47 spinocerebellar ataxia 18 9.6 ATXN3 ATXN7 CACNA1A
48 spinal and bulbar muscular atrophy, x-linked 1 9.6 ATXN3 ATXN7 HTT
49 spinocerebellar ataxia 6 9.6 ATXN3 ATXN7 CACNA1A
50 spinocerebellar ataxia 31 9.5 ATXN3 ATXN7 CACNA1A

Graphical network of the top 20 diseases related to Dentatorubral-Pallidoluysian Atrophy:



Diseases related to Dentatorubral-Pallidoluysian Atrophy

Symptoms & Phenotypes for Dentatorubral-Pallidoluysian Atrophy

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
myoclonus
dementia
choreoathetosis
cerebellar ataxia
more

Clinical features from OMIM:

125370

Human phenotypes related to Dentatorubral-Pallidoluysian Atrophy:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 very rare (1%) Frequent (79-30%) HP:0000639
2 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
3 ataxia 59 32 very rare (1%) Frequent (79-30%) HP:0001251
4 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
5 myoclonus 59 32 very rare (1%) Frequent (79-30%) HP:0001336
6 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
7 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
8 impaired proprioception 59 32 frequent (33%) Frequent (79-30%) HP:0010831
9 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
10 ophthalmoparesis 59 32 frequent (33%) Frequent (79-30%) HP:0000597
11 memory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002354
12 dementia 59 32 very rare (1%) Frequent (79-30%) HP:0000726
13 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
14 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
15 optic neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0001138
16 saccadic smooth pursuit 59 32 frequent (33%) Frequent (79-30%) HP:0001152
17 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
18 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
19 truncal ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002078
20 action tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002345
21 dyssynergia 59 32 frequent (33%) Frequent (79-30%) HP:0010867
22 hyperintensity of cerebral white matter on mri 59 32 frequent (33%) Frequent (79-30%) HP:0030890
23 blepharospasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0000643
24 oromandibular dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012048
25 chorea 32 very rare (1%) HP:0002072
26 abnormal pyramidal signs 32 very rare (1%) HP:0007256
27 cognitive impairment 59 Frequent (79-30%)
28 involuntary movements 59 Frequent (79-30%)
29 fetal cystic hygroma 32 hallmark (90%) HP:0010878
30 atrophy of the dentate nucleus 32 hallmark (90%) HP:0007047

UMLS symptoms related to Dentatorubral-Pallidoluysian Atrophy:


cerebellar ataxia, myoclonus, seizures

MGI Mouse Phenotypes related to Dentatorubral-Pallidoluysian Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ATN1 ATXN2 ATXN3 ATXN7 BAIAP2 CACNA1A
2 homeostasis/metabolism MP:0005376 9.86 ATN1 ATXN2 ATXN3 BAIAP2 CACNA1A HTT
3 mortality/aging MP:0010768 9.76 ATN1 ATXN2 ATXN7 BAIAP2 CACNA1A HTT
4 nervous system MP:0003631 9.61 HTT JPH3 TBP ATN1 ATXN2 ATXN3
5 reproductive system MP:0005389 9.1 ATN1 ATXN2 ATXN7 CACNA1A HTT JPH3

Drugs & Therapeutics for Dentatorubral-Pallidoluysian Atrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

Search NIH Clinical Center for Dentatorubral-Pallidoluysian Atrophy

Cochrane evidence based reviews: myoclonic epilepsies, progressive

Genetic Tests for Dentatorubral-Pallidoluysian Atrophy

Genetic tests related to Dentatorubral-Pallidoluysian Atrophy:

# Genetic test Affiliating Genes
1 Dentatorubral Pallidoluysian Atrophy 29 ATN1

Anatomical Context for Dentatorubral-Pallidoluysian Atrophy

MalaCards organs/tissues related to Dentatorubral-Pallidoluysian Atrophy:

41
Brain, Testes, Endothelial, Cortex, Cerebellum

Publications for Dentatorubral-Pallidoluysian Atrophy

Articles related to Dentatorubral-Pallidoluysian Atrophy:

(show top 50) (show all 137)
# Title Authors Year
1
Clinical and magnetic resonance imaging features of elderly onset dentatorubral-pallidoluysian atrophy. ( 29236168 )
2018
2
Successful Treatment with Olanzapine of Psychosis in Dentatorubral-pallidoluysian Atrophy: A Case Report. ( 29739138 )
2018
3
Pearls & Oy-sters: Family history of Huntington disease disguised a case of dentatorubral-pallidoluysian atrophy. ( 29335306 )
2018
4
Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA). ( 28856097 )
2017
5
Dentatorubral-pallidoluysian atrophy (DRPLA) with a small ganglioglioma component containing neurofibrillary tangles and polyglutamine aggregation. ( 28144989 )
2017
6
Striatal glucose hypometabolism in preadolescent-onset dentatorubral-pallidoluysian atrophy. ( 26723987 )
2016
7
The first identified Central-Eastern European patient with genetically confirmed dentatorubral-pallidoluysian atrophy. ( 25842919 )
2015
8
Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs. ( 23263592 )
2013
9
Increased aggregation of polyleucine compared with that of polyglutamine in dentatorubral-pallidoluysian atrophy protein. ( 23933208 )
2013
10
Dentatorubral-pallidoluysian atrophy: haplotype of Asian origin in 2 Italian families. ( 22083836 )
2012
11
Neurological picture. Distinctive MRI abnormalities in a man with dentatorubral-pallidoluysian atrophy. ( 22362920 )
2012
12
Is cerebral white matter involvement helpful in the diagnosis of dentatorubral-pallidoluysian atrophy? ( 22286658 )
2012
13
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy. ( 22527233 )
2012
14
Dentatorubral-pallidoluysian atrophy. ( 21827919 )
2012
15
Dentatorubral pallidoluysian atrophy. ( 21496575 )
2011
16
Radiologic and neuropathologic findings in patients in a family with dentatorubral-pallidoluysian atrophy. ( 20966051 )
2011
17
Transarterial embolisation for refractory bilateral chronic subdural hematomas in a case with dentatorubral-pallidoluysian atrophy. ( 21125409 )
2011
18
Dentatorubral pallidoluysian atrophy presenting with urinary retention. ( 20669269 )
2010
19
Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy. ( 20977674 )
2010
20
[Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population]. ( 20931525 )
2010
21
Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length. ( 20589872 )
2010
22
Dentatorubral-pallidoluysian atrophy (DRPLA). ( 20500452 )
2010
23
A case of late adult-onset dentatorubral-pallidoluysian atrophy mimicking central pontine myelinolysis. ( 19390768 )
2009
24
Dentatorubral pallidoluysian atrophy in a Turkish family. ( 20196398 )
2009
25
Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review. ( 19514013 )
2009
26
[Case report of dentatorubral pallidoluysian atrophy in a patient on a ketogenic diet]. ( 19522273 )
2009
27
Cutaneous accumulation of abnormal polyglutamine proteins of patients with dentatorubral-pallidoluysian atrophy. ( 19469833 )
2009
28
Dentatorubral pallidoluysian atrophy in South Wales. ( 17965145 )
2008
29
Oxidative stress in neurodegeneration in dentatorubral-pallidoluysian atrophy. ( 17949751 )
2008
30
Electroclinical features of epilepsy in patients with juvenile type dentatorubral-pallidoluysian atrophy. ( 18616556 )
2008
31
Neuropathological analysis of the brainstem and cerebral cortex lesions on epileptogenesis in hereditary dentatorubral-pallidoluysian atrophy. ( 17307319 )
2007
32
Renal complications in two patients with dentatorubral-pallidoluysian atrophy. ( 17269599 )
2007
33
Global and region-specific analyses of apparent diffusion coefficient in dentatorubral-pallidoluysian atrophy. ( 16908559 )
2006
34
White matter T2 hyperintensity development and clinical deterioration after status epilepticus in a patient with dentatorubral-pallidoluysian atrophy. ( 16720221 )
2006
35
Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion. ( 17078058 )
2006
36
Polyglutamine disease: recent advances in the neuropathology of dentatorubral-pallidoluysian atrophy. ( 16961072 )
2006
37
Neuronal atrophy and synaptic alteration in a mouse model of dentatorubral-pallidoluysian atrophy. ( 16891319 )
2006
38
Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent. ( 15948186 )
2005
39
Proton MR spectroscopy of adult-onset dentatorubral-pallidoluysian atrophy. ( 16462132 )
2005
40
Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions. ( 15133824 )
2004
41
Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong. ( 14967857 )
2004
42
Phenotype variability in a caucasian family with dentatorubral-pallidoluysian atrophy. ( 15528920 )
2004
43
Glyceraldehyde 3-phosphate dehydrogenase and endothelin-1 immunoreactivity is associated with cerebral white matter damage in dentatorubral-pallidoluysian atrophy. ( 12722924 )
2003
44
Cervical dystonia in dentatorubral-pallidoluysian atrophy. ( 12956864 )
2003
45
Pallidotomy for severe generalized chorea of juvenile-onset dentatorubral-pallidoluysian atrophy. ( 14638982 )
2003
46
A pediatric patient with sporadic dentatorubral pallidoluysian atrophy. ( 12657426 )
2003
47
Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c- Jun NH2-terminal kinase. ( 12812981 )
2003
48
Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. ( 12925365 )
2003
49
Selective colocalization of transglutaminase-like activity in ubiquitinated intranuclear inclusions of hereditary dentatorubral-pallidoluysian atrophy. ( 12376195 )
2002
50
Dentatorubral-pallidoluysian atrophy: clinical aspects and molecular genetics. ( 11968450 )
2002

Variations for Dentatorubral-Pallidoluysian Atrophy

ClinVar genetic disease variations for Dentatorubral-Pallidoluysian Atrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATN1 NM_001940.3(ATN1) NT expansion Pathogenic rs193922934 GRCh37 Chromosome 12, 7045880: 7045882
2 ATN1 NM_001940.3(ATN1) NT expansion Pathogenic rs193922934 GRCh38 Chromosome 12, 6936717: 6936719
3 ATN1 NM_001007026.1(ATN1) NT expansion Pathogenic GRCh37 Chromosome 12, 7045892: 7045894
4 ATN1 NM_001007026.1(ATN1) NT expansion Pathogenic GRCh38 Chromosome 12, 6936729: 6936731
5 ATN1 NM_001007026.1(ATN1) NT expansion Pathogenic GRCh37 Chromosome 12, 7045892: 7045894
6 ATN1 NM_001007026.1(ATN1) NT expansion Pathogenic GRCh38 Chromosome 12, 6936729: 6936731
7 ATN1 NM_001007026.1(ATN1) duplication Conflicting interpretations of pathogenicity rs797045323 GRCh37 Chromosome 12, 7045933: 7045938
8 ATN1 NM_001007026.1(ATN1) duplication Conflicting interpretations of pathogenicity rs797045323 GRCh38 Chromosome 12, 6936770: 6936775

Expression for Dentatorubral-Pallidoluysian Atrophy

Search GEO for disease gene expression data for Dentatorubral-Pallidoluysian Atrophy.

Pathways for Dentatorubral-Pallidoluysian Atrophy

Pathways related to Dentatorubral-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 ATXN2 ATXN3 ATXN7 HTT PPP2R2B

GO Terms for Dentatorubral-Pallidoluysian Atrophy

Cellular components related to Dentatorubral-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.61 ATN1 ATXN2 ATXN3 ATXN7 BAIAP2 CACNA1A
2 nuclear matrix GO:0016363 8.8 ATN1 ATXN3 ATXN7

Biological processes related to Dentatorubral-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of phosphoprotein phosphatase activity GO:0043666 9.16 HTT PPP2R2B
2 regulation of synaptic plasticity GO:0048167 8.96 BAIAP2 JPH3
3 neuromuscular process controlling balance GO:0050885 8.62 CACNA1A JPH3

Sources for Dentatorubral-Pallidoluysian Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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