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Dentatorubral pallidoluysian atrophy(DRPLA)

MedGen UID:
155630
Concept ID:
C0751781
Disease or Syndrome
Synonyms: Ataxia, chorea, seizures, and dementia; DRPLA; Haw River syndrome; Myoclonic epilepsy with choreoathetosis; Naito Oyanagi disease
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Genetic anticipation
MedGen UID:
109454
Concept ID:
C0600498
Organism Attribute
Source: HPO
The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
SNOMED CT: Dentatorubropallidoluysian degeneration (68116008); Dentatorubropallidoluysian atrophy (68116008); DRPLA - Dentatorubropallidoluysian atrophy (68116008); Dentatorubral-pallidoluysian atrophy (68116008); Dentatorubral-pallidoluysian atrophy (DRPLA) (68116008); Myoclonic epilepsy with choreoathetosis (702422004); Naito-Oyanagi disease (702422004); Dentatorubral-pallidoluysian atrophy (702422004); Haw river syndrome (702422004); Naito-Oyanagi disease (68116008); Haw river syndrome (68116008)
 
Gene (location): ATN1 (12p13.31)
OMIM®: 125370
Orphanet: ORPHA101

Definition

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, myoclonus, epilepsy, and progressive intellectual deterioration in children and ataxia, choreoathetosis, and dementia or character changes in adults. Onset ranges from before age one year to age 72 years; mean age of onset is 31.5 years. The clinical presentation varies depending on the age of onset. The cardinal features in adults are ataxia, choreoathetosis, and dementia. Cardinal features in children are progressive intellectual deterioration, behavioral changes, myoclonus, and epilepsy. [from GeneReviews]

Additional description

From GHR
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.The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disability, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia).  https://ghr.nlm.nih.gov/condition/dentatorubral-pallidoluysian-atrophy

Clinical features

Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.
Choreoathetosis
MedGen UID:
66712
Concept ID:
C0234967
Finding
Atrophy of the dentate nucleus
MedGen UID:
341848
Concept ID:
C1857788
Finding
Partial or complete wasting (loss) of dentate nucleus.
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Myoclonus
MedGen UID:
504806
Concept ID:
CN001224
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Chorea
MedGen UID:
505081
Concept ID:
CN001874
Finding
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Fetal cystic hygroma
MedGen UID:
506411
Concept ID:
CN116612
Finding
The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm.
Fetal cystic hygroma
MedGen UID:
506411
Concept ID:
CN116612
Finding
The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm.
Fetal cystic hygroma
MedGen UID:
506411
Concept ID:
CN116612
Finding
The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDentatorubral pallidoluysian atrophy
Follow this link to review classifications for Dentatorubral pallidoluysian atrophy in Orphanet.

Professional guidelines

PubMed

van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O
Eur J Neurol 2014 Apr;21(4):552-62. Epub 2014 Jan 13 doi: 10.1111/ene.12341. PMID: 24418350
Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS.
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. PMID: 20050888

Recent clinical studies

Etiology

Sone D, Sato N, Yokoyama K, Sumida K, Kanai M, Imabayashi E, Saito Y, Matsuda H
J Neurol Sci 2016 Jan 15;360:121-4. Epub 2015 Dec 3 doi: 10.1016/j.jns.2015.12.002. PMID: 26723987
Nagai S, Saito Y, Endo Y, Saito T, Sugai K, Ishiyama A, Komaki H, Nakagawa E, Sasaki M, Ito K, Saito Y, Sukigara S, Ito M, Goto Y, Ito S, Matsuoka K
J Neurol 2013 May;260(5):1263-71. Epub 2012 Dec 23 doi: 10.1007/s00415-012-6787-9. PMID: 23263592
Maruyama S, Saito Y, Nakagawa E, Saito T, Komaki H, Sugai K, Sasaki M, Kumada S, Saito Y, Tanaka H, Minami N, Goto Y
J Neurol 2012 Nov;259(11):2329-34. Epub 2012 Apr 18 doi: 10.1007/s00415-012-6493-7. PMID: 22527233
Wardle M, Morris HR, Robertson NP
Mov Disord 2009 Aug 15;24(11):1636-40. doi: 10.1002/mds.22642. PMID: 19514013
Egawa K, Takahashi Y, Kubota Y, Kubota H, Inoue Y, Fujiwara T, Onodera O
Epilepsia 2008 Dec;49(12):2041-9. Epub 2008 Jun 26 doi: 10.1111/j.1528-1167.2008.01701.x. PMID: 18616556

Diagnosis

Zádori D, Tánczos T, Jakab K, Vécsei L, Klivényi P
Ideggyogy Sz 2015 Jan 30;68(1-2):68-71. PMID: 25842919
Maruyama S, Saito Y, Nakagawa E, Saito T, Komaki H, Sugai K, Sasaki M, Kumada S, Saito Y, Tanaka H, Minami N, Goto Y
J Neurol 2012 Nov;259(11):2329-34. Epub 2012 Apr 18 doi: 10.1007/s00415-012-6493-7. PMID: 22527233
Yoon WT, Youn J, Cho JW
J Neurol 2012 Aug;259(8):1694-7. doi: 10.1007/s00415-011-6401-6. PMID: 22286658
Hasegawa A, Ikeuchi T, Koike R, Matsubara N, Tsuchiya M, Nozaki H, Homma A, Idezuka J, Nishizawa M, Onodera O
Mov Disord 2010 Aug 15;25(11):1694-700. doi: 10.1002/mds.23167. PMID: 20589872
Yam WK, Wu NS, Lo IF, Ko CH, Yeung WL, Lam ST
Hong Kong Med J 2004 Feb;10(1):53-6. PMID: 14967857

Therapy

Kobayashi K, Takeuchi A, Oka M, Akiyama M, Ohtsuka Y
Brain Dev 2012 May;34(5):368-71. Epub 2011 Sep 1 doi: 10.1016/j.braindev.2011.07.013. PMID: 21889282
Miyahara A, Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M
Epilepsy Res 2009 Apr;84(2-3):201-9. Epub 2009 Mar 5 doi: 10.1016/j.eplepsyres.2009.02.010. PMID: 19268538
Egawa K, Takahashi Y, Kubota Y, Kubota H, Inoue Y, Fujiwara T, Onodera O
Epilepsia 2008 Dec;49(12):2041-9. Epub 2008 Jun 26 doi: 10.1111/j.1528-1167.2008.01701.x. PMID: 18616556
Ikeuchi T, Igarashi S, Takiyama Y, Onodera O, Oyake M, Takano H, Koide R, Tanaka H, Tsuji S
Am J Hum Genet 1996 Apr;58(4):730-3. PMID: 8644735Free PMC Article
Komure O, Sano A, Nishino N, Yamauchi N, Ueno S, Kondoh K, Sano N, Takahashi M, Murayama N, Kondo I
Neurology 1995 Jan;45(1):143-9. PMID: 7824105

Prognosis

Nagai S, Saito Y, Endo Y, Saito T, Sugai K, Ishiyama A, Komaki H, Nakagawa E, Sasaki M, Ito K, Saito Y, Sukigara S, Ito M, Goto Y, Ito S, Matsuoka K
J Neurol 2013 May;260(5):1263-71. Epub 2012 Dec 23 doi: 10.1007/s00415-012-6787-9. PMID: 23263592
Maruyama S, Saito Y, Nakagawa E, Saito T, Komaki H, Sugai K, Sasaki M, Kumada S, Saito Y, Tanaka H, Minami N, Goto Y
J Neurol 2012 Nov;259(11):2329-34. Epub 2012 Apr 18 doi: 10.1007/s00415-012-6493-7. PMID: 22527233
Hasegawa A, Ikeuchi T, Koike R, Matsubara N, Tsuchiya M, Nozaki H, Homma A, Idezuka J, Nishizawa M, Onodera O
Mov Disord 2010 Aug 15;25(11):1694-700. doi: 10.1002/mds.23167. PMID: 20589872
Egawa K, Takahashi Y, Kubota Y, Kubota H, Inoue Y, Fujiwara T, Onodera O
Epilepsia 2008 Dec;49(12):2041-9. Epub 2008 Jun 26 doi: 10.1111/j.1528-1167.2008.01701.x. PMID: 18616556
Vinton A, Fahey MC, O'Brien TJ, Shaw J, Storey E, Gardner RJ, Mitchell PJ, Du Sart D, King JO
Am J Med Genet A 2005 Jul 15;136(2):201-4. doi: 10.1002/ajmg.a.30355. PMID: 15948186

Clinical prediction guides

Maruyama S, Saito Y, Nakagawa E, Saito T, Komaki H, Sugai K, Sasaki M, Kumada S, Saito Y, Tanaka H, Minami N, Goto Y
J Neurol 2012 Nov;259(11):2329-34. Epub 2012 Apr 18 doi: 10.1007/s00415-012-6493-7. PMID: 22527233
Yiş U, Dirik E, Gündoğdu-Eken A, Başak AN
Turk J Pediatr 2009 Nov-Dec;51(6):610-2. PMID: 20196398
Wardle M, Morris HR, Robertson NP
Mov Disord 2009 Aug 15;24(11):1636-40. doi: 10.1002/mds.22642. PMID: 19514013
Egawa K, Takahashi Y, Kubota Y, Kubota H, Inoue Y, Fujiwara T, Onodera O
Epilepsia 2008 Dec;49(12):2041-9. Epub 2008 Jun 26 doi: 10.1111/j.1528-1167.2008.01701.x. PMID: 18616556
Miyata R, Hayashi M, Tanuma N, Shioda K, Fukatsu R, Mizutani S
J Neurol Sci 2008 Jan 15;264(1-2):133-9. Epub 2007 Oct 18 doi: 10.1016/j.jns.2007.08.025. PMID: 17949751

Recent systematic reviews

Wardle M, Morris HR, Robertson NP
Mov Disord 2009 Aug 15;24(11):1636-40. doi: 10.1002/mds.22642. PMID: 19514013

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