Details of Disease

General Information of Disease (ID: DISHWE0K)

• Disease Name: Dentatorubral-pallidoluysian atrophy
• Synonyms: dentatorubral pallidoluysian atrophy; myoclonic epilepsy with choreoathetosis; Naito Oyanagi disease; NOD; ataxia, chorea, seizures, and dementia; DRPLA; haw River syndrome; dentatorubral-pallidoluysian atrophy; Dentatorubropallidoluysian atrophy; Naito-Oyanagi disease
• Definition: Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
• Disease Hierarchy:
  DISTHNDH: Autosomal dominant cerebellar ataxia type IV
  DIS6BW88: Huntington disease-like syndrome
  DISHWE0K: Dentatorubral-pallidoluysian atrophy
• Disease Identifiers:
  MONDO ID: MONDO_0007435
  MESH ID: D020191
  UMLS CUI: C0751781
  OMIM ID: 125370
  MedGen ID: 155630
  Orphanet ID: 101
  SNOMED CT ID: 68116008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATXN3	TT6A17J	Limited	Genetic Variation	[1]
CACNA1A	TTX4QDJ	Limited	Genetic Variation	[1]
ADORA1	TTK25J1	Strong	Altered Expression	[2]
CLN6	TTJCOQ7	Strong	Biomarker	[3]
FGF14	TTKJX1V	Strong	Biomarker	[4]
HTT	TTIWZ0O	Strong	Altered Expression	[5]
KCNC1	TTVUWHQ	Strong	Biomarker	[3]
NAGLU	TTDM6HZ	Strong	Altered Expression	[6]
PRKCG	TTRFOXJ	Strong	Biomarker	[7]
PRNP	TTY5F9C	Strong	Biomarker	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	Strong	Biomarker	[8]

This Disease Is Related to 24 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATXN1	OTQF0HNR	Limited	Genetic Variation	[1]
LY6E	OTMG16BZ	Limited	Genetic Variation	[9]
TBP	OT6C0S52	Limited	Biomarker	[10]
AFG3L2	OTRPMAUX	Strong	Biomarker	[3]
ATN1	OTNZFLKY	Strong	Autosomal dominant	[11]
ATXN10	OTKRDUNN	Strong	Genetic Variation	[1]
BEAN1	OT0WLH27	Strong	Genetic Variation	[12]
EPM2A	OTJU4IAG	Strong	Biomarker	[3]
JPH3	OTHTJO2I	Strong	Biomarker	[13]
NBAS	OTW9IBRI	Strong	Altered Expression	[6]
NEU1	OTH9BY8Y	Strong	Biomarker	[3]
NHLRC1	OTRQ0A4W	Strong	Biomarker	[3]
PLEKHG4	OT3RBPFL	Strong	Biomarker	[14]
PPP2R2B	OTSFVC82	Strong	Biomarker	[15]
RSC1A1	OT54EM29	Strong	Biomarker	[16]
SACS	OTZGXQ8A	Strong	Biomarker	[3]
SCN7A	OTK05PXY	Strong	Altered Expression	[6]
SERPINI1	OTUJHIJW	Strong	Biomarker	[3]
SPTBN2	OTDMJ75N	Strong	Biomarker	[14]
TAF4	OTPIRFEF	Strong	Biomarker	[17]
TBC1D24	OTKZUSMD	Strong	Biomarker	[3]
TK2	OTS1V4XB	Strong	Genetic Variation	[12]
TSC1	OTFF4YZ7	Strong	Biomarker	[18]
NBR1	OTVRL7J9	Definitive	Genetic Variation	[19]

References

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• [2] Diminished adenosine A1 receptor expression in pancreatic -cells may contribute to the pathology of type 1 diabetes.Diabetes. 2013 Dec;62(12):4208-19. doi: 10.2337/db13-0614.
• [3] A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17.
• [4] Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family.Neurosci Lett. 2010 Aug 2;479(3):321-6. doi: 10.1016/j.neulet.2010.05.089.
• [5] Targeting several CAG expansion diseases by a single antisense oligonucleotide.PLoS One. 2011;6(9):e24308. doi: 10.1371/journal.pone.0024308. Epub 2011 Sep 1.
• [6] Assessment and prediction of acute kidney injury in patients with decompensated cirrhosis with serum cystatin C and urine N-acetyl--D-glucosaminidase.J Gastroenterol Hepatol. 2019 Jan;34(1):234-240. doi: 10.1111/jgh.14387. Epub 2018 Aug 21.
• [7] Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.Orphanet J Rare Dis. 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33.
• [8] Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.Parkinsonism Relat Disord. 2019 Sep;66:220-223. doi: 10.1016/j.parkreldis.2019.08.004. Epub 2019 Aug 7.
• [9] Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.Eur J Neurol. 2010 Jan;17(1):124-8. doi: 10.1111/j.1468-1331.2009.02757.x. Epub 2009 Jul 29.
• [10] Pathogenesis of SCA3 and implications for other polyglutamine diseases.Neurobiol Dis. 2020 Feb;134:104635. doi: 10.1016/j.nbd.2019.104635. Epub 2019 Oct 24.
• [11] Genetic analysis of a dentatorubral-pallidoluysian atrophy family: relevance to apparent sporadic cases. Intern Med. 1999 Mar;38(3):287-9. doi: 10.2169/internalmedicine.38.287.
• [12] SCA31 is rare in the Chinese population on Taiwan.Neurobiol Aging. 2012 Feb;33(2):426.e23-4. doi: 10.1016/j.neurobiolaging.2010.10.012. Epub 2010 Dec 15.
• [13] Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.J Hum Genet. 2013 Jan;58(1):3-6. doi: 10.1038/jhg.2012.111. Epub 2012 Sep 13.
• [14] Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients.Neurology. 1996 Jan;46(1):214-8. doi: 10.1212/wnl.46.1.214.
• [15] Genetic screening of Greek patients with Huntingtons disease phenocopies identifies an SCA8 expansion.J Neurol. 2012 Sep;259(9):1874-8. doi: 10.1007/s00415-012-6430-9.
• [16] Terlipressin for the treatment of hepatorenal syndrome: an overview of current evidence.Curr Med Res Opin. 2019 May;35(5):859-868. doi: 10.1080/03007995.2018.1552575. Epub 2019 Jan 4.
• [17] Pathology of CAG repeat diseases.Neuropathology. 2000 Dec;20(4):319-25. doi: 10.1046/j.1440-1789.2000.00354.x.
• [18] The natural history and treatment of epilepsy in a murine model of tuberous sclerosis.Epilepsia. 2007 Aug;48(8):1470-6. doi: 10.1111/j.1528-1167.2007.01110.x. Epub 2007 May 1.
• [19] Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?.Autophagy. 2019 Feb;15(2):368-371. doi: 10.1080/15548627.2018.1509609. Epub 2018 Sep 13.