DRPLA
MCID: DNT005
MIFTS: 52

Dentatorubral-Pallidoluysian Atrophy (DRPLA)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 seizures, myoclonus and cerebellar ataxia. 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, lung and kidney, and related phenotypes are nystagmus and seizures

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.

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.

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.

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 160)
# Related Disease Score Top Affiliating Genes
1 cerebellar degeneration 30.7 CACNA1A ATXN2
2 machado-joseph disease 30.4 HTT CACNA1A ATXN7 ATXN3 ATXN2 ATN1
3 spinocerebellar ataxia 1 30.0 HTT CACNA1A ATXN7 ATXN3 ATN1
4 huntington disease 29.9 TBP JPH3 HTT ATXN3 ATN1
5 autosomal dominant cerebellar ataxia 29.6 ATXN2 ATN1 TBP PPP2R2B HTT CACNA1A
6 aceruloplasminemia 29.5 TBP PPP2R2B CACNA1A ATXN7 ATXN3 ATXN2
7 hepatorenal syndrome 11.5
8 unverricht-lundborg syndrome 11.4
9 progressive myoclonus epilepsy, lafora type 11.4
10 hypotrichosis 4 11.3
11 atrichia with papular lesions 11.3
12 lymphoma, hodgkin, classic 11.3
13 marie unna congenital hypotrichosis 11.2
14 rh-null, amorph type 11.1
15 ramer ladda syndrome 11.1
16 aspiration pneumonitis 11.0
17 epilepsy 10.6
18 myoclonus epilepsy 10.6
19 myoclonus 10.6
20 muscular atrophy 10.5
21 esterase c 10.4
22 supranuclear palsy, progressive, 1 10.4
23 myoclonus and ataxia 10.3
24 cervical dystonia 10.3
25 status epilepticus 10.3
26 ganglioglioma 10.3
27 dystonia 10.3
28 paraplegia 10.3
29 central pontine myelinolysis 10.3
30 progressive myoclonus epilepsy 10.3
31 tremor 10.3
32 atrial fibrillation 10.3
33 cardiac conduction defect 10.3
34 syncope 10.3
35 breast cancer 10.2
36 cardiac arrhythmia 10.2
37 keratoconus 10.2
38 cervical cancer 10.1
39 leukemia 10.1
40 chronic venous insufficiency 10.1
41 venous insufficiency 10.1
42 heart disease 10.1
43 thrombosis 10.1
44 hypotrichosis 10.1
45 schizophrenia 10.0
46 myoclonic epilepsy of unverricht and lundborg 10.0
47 degos 'en cocarde' erythrokeratoderma 10.0
48 tetralogy of fallot 10.0
49 spinocerebellar ataxia 36 10.0 PPP2R2B ATXN2
50 ischemic heart disease 10.0

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 cognitive impairment 59 Frequent (79-30%)
27 involuntary movements 59 Frequent (79-30%)
28 fetal cystic hygroma 32 hallmark (90%) HP:0010878
29 atrophy of the dentate nucleus 32 hallmark (90%) HP:0007047
30 abnormal pyramidal sign 32 very rare (1%) HP:0007256

UMLS symptoms related to Dentatorubral-Pallidoluysian Atrophy:


seizures, myoclonus, cerebellar ataxia

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 ATN1 ATXN2 ATXN3 ATXN7 BAIAP2 CACNA1A
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, Lung, Kidney, Bone, Heart, Breast, Myeloid

Publications for Dentatorubral-Pallidoluysian Atrophy

Articles related to Dentatorubral-Pallidoluysian Atrophy:

(show top 50) (show all 167)
# 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
Successful treatment of psychosis in dentatorubral-pallidoluysian atrophy with quetiapine: A case report. ( 30106267 )
2018
5
Dentatorubral-pallidoluysian Atrophy: An Update. ( 30410817 )
2018
6
Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA). ( 28856097 )
2017
7
Dentatorubral-pallidoluysian atrophy (DRPLA) with a small ganglioglioma component containing neurofibrillary tangles and polyglutamine aggregation. ( 28144989 )
2017
8
Striatal glucose hypometabolism in preadolescent-onset dentatorubral-pallidoluysian atrophy. ( 26723987 )
2016
9
The first identified Central-Eastern European patient with genetically confirmed dentatorubral-pallidoluysian atrophy. ( 25842919 )
2015
10
Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA). ( 26679169 )
2015
11
Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs. ( 23263592 )
2013
12
Increased aggregation of polyleucine compared with that of polyglutamine in dentatorubral-pallidoluysian atrophy protein. ( 23933208 )
2013
13
DRPLA: recent advances in research using transgenic mouse models. ( 23754232 )
2013
14
Dentatorubral-pallidoluysian atrophy: haplotype of Asian origin in 2 Italian families. ( 22083836 )
2012
15
Neurological picture. Distinctive MRI abnormalities in a man with dentatorubral-pallidoluysian atrophy. ( 22362920 )
2012
16
Is cerebral white matter involvement helpful in the diagnosis of dentatorubral-pallidoluysian atrophy? ( 22286658 )
2012
17
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy. ( 22527233 )
2012
18
Dentatorubral-pallidoluysian atrophy. ( 21827919 )
2012
19
Dentatorubral pallidoluysian atrophy. ( 21496575 )
2011
20
Radiologic and neuropathologic findings in patients in a family with dentatorubral-pallidoluysian atrophy. ( 20966051 )
2011
21
Transarterial embolisation for refractory bilateral chronic subdural hematomas in a case with dentatorubral-pallidoluysian atrophy. ( 21125409 )
2011
22
Dentatorubral pallidoluysian atrophy presenting with urinary retention. ( 20669269 )
2010
23
Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy. ( 20977674 )
2010
24
[Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population]. ( 20931525 )
2010
25
Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length. ( 20589872 )
2010
26
Dentatorubral-pallidoluysian atrophy (DRPLA). ( 20500452 )
2010
27
Absence seizures with myoclonic seizures as an early manifestation of dentato-rubro-pallido-luysian atrophy (DRPLA): a follow-up clinical course of twelve years. ( 20514931 )
2010
28
The fine line between waste disposal and recycling: DRPLA fly models illustrate the importance of completing the autophagy cycle for rescuing neurodegeneration. ( 20543566 )
2010
29
A case of late adult-onset dentatorubral-pallidoluysian atrophy mimicking central pontine myelinolysis. ( 19390768 )
2009
30
Dentatorubral pallidoluysian atrophy in a Turkish family. ( 20196398 )
2009
31
Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review. ( 19514013 )
2009
32
[Case report of dentatorubral pallidoluysian atrophy in a patient on a ketogenic diet]. ( 19522273 )
2009
33
Cutaneous accumulation of abnormal polyglutamine proteins of patients with dentatorubral-pallidoluysian atrophy. ( 19469833 )
2009
34
Dentatorubral pallidoluysian atrophy in South Wales. ( 17965145 )
2008
35
Oxidative stress in neurodegeneration in dentatorubral-pallidoluysian atrophy. ( 17949751 )
2008
36
Electroclinical features of epilepsy in patients with juvenile type dentatorubral-pallidoluysian atrophy. ( 18616556 )
2008
37
Neuropathological analysis of the brainstem and cerebral cortex lesions on epileptogenesis in hereditary dentatorubral-pallidoluysian atrophy. ( 17307319 )
2007
38
Renal complications in two patients with dentatorubral-pallidoluysian atrophy. ( 17269599 )
2007
39
Global and region-specific analyses of apparent diffusion coefficient in dentatorubral-pallidoluysian atrophy. ( 16908559 )
2006
40
White matter T2 hyperintensity development and clinical deterioration after status epilepticus in a patient with dentatorubral-pallidoluysian atrophy. ( 16720221 )
2006
41
Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion. ( 17078058 )
2006
42
Polyglutamine disease: recent advances in the neuropathology of dentatorubral-pallidoluysian atrophy. ( 16961072 )
2006
43
Neuronal atrophy and synaptic alteration in a mouse model of dentatorubral-pallidoluysian atrophy. ( 16891319 )
2006
44
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
45
Proton MR spectroscopy of adult-onset dentatorubral-pallidoluysian atrophy. ( 16462132 )
2005
46
Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions. ( 15133824 )
2004
47
Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong. ( 14967857 )
2004
48
Phenotype variability in a caucasian family with dentatorubral-pallidoluysian atrophy. ( 15528920 )
2004
49
Glyceraldehyde 3-phosphate dehydrogenase and endothelin-1 immunoreactivity is associated with cerebral white matter damage in dentatorubral-pallidoluysian atrophy. ( 12722924 )
2003
50
Cervical dystonia in dentatorubral-pallidoluysian atrophy. ( 12956864 )
2003

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): c.1462_1464CAG(6_35) (p.Gln494_Gln502del) NT expansion Benign GRCh37 Chromosome 12, 7045892: 7045894
6 ATN1 NM_001007026.1(ATN1): c.1462_1464CAG(6_35) (p.Gln494_Gln502del) NT expansion Benign GRCh38 Chromosome 12, 6936729: 6936731
7 ATN1 NM_001007026.1(ATN1) NT expansion Pathogenic GRCh37 Chromosome 12, 7045892: 7045894
8 ATN1 NM_001007026.1(ATN1) NT expansion Pathogenic GRCh38 Chromosome 12, 6936729: 6936731
9 ATN1 NM_001007026.1(ATN1) duplication Conflicting interpretations of pathogenicity rs797045323 GRCh37 Chromosome 12, 7045933: 7045938
10 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 9.91 ATN1 ATXN2 ATXN3 ATXN7 BAIAP2 CACNA1A
2 postsynaptic cytosol GO:0099524 9.16 BAIAP2 HTT
3 presynaptic cytosol GO:0099523 8.96 BAIAP2 HTT
4 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 9.26 HTT PPP2R2B
2 neuromuscular process controlling balance GO:0050885 9.16 CACNA1A JPH3
3 regulation of synaptic plasticity GO:0048167 8.96 BAIAP2 JPH3
4 exploration behavior GO:0035640 8.62 ATXN3 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
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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
Content
Loading form....