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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: HPO, 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 (HPO, OMIM, Orphanet)
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

Ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
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).
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
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.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
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.
Choreoathetosis
MedGen UID:
39313
Concept ID:
C0085583
Disease or Syndrome
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Abnormal pyramidal signs
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. . Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke.
Nuchal bleb, familial
MedGen UID:
181758
Concept ID:
C0948242
Congenital Abnormality
Fetal cystic hygromas are congenital malformations of the lymphatic system appearing as single or multiloculated fluid-filled cavities, most often in the neck. They are thought to arise from failure of the lymphatic system to communicate with the venous system in the neck. They often progress to hydrops and cause fetal death (Chervenak et al., 1983).
Atrophy of the dentate nucleus
MedGen UID:
341848
Concept ID:
C1857788
Finding
Partial or complete wasting (loss) of dentate nucleus.

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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