Details of Disease | DrugMAP

General Information of Disease (ID: DISPYXJ0)

Disease Name	Spinocerebellar ataxia type 5
Synonyms	spinocerebellar ataxia 5; spinocerebellar ataxia type 5; SCA5
Definition	Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.
Disease Hierarchy	DISQBYEM: Autosomal dominant cerebellar ataxia type III DISPYXJ0: Spinocerebellar ataxia type 5
Disease Identifiers	MONDO ID MONDO_0010848 MESH ID D020754 UMLS CUI C0752123 OMIM ID 600224 MedGen ID 155705 Orphanet ID 98766 SNOMED CT ID 719302009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATXN2	TTPQJ7P	Limited	Biomarker	[1]
CACNA1A	TTX4QDJ	Limited	Biomarker	[2]
FOXC1	TTNT3YA	Limited	Biomarker	[3]
PRKCG	TTRFOXJ	Strong	Biomarker	[4]
SPTBN1	TTS9BDA	Strong	Genetic Variation	[5]
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This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATXN1	OTQF0HNR	Limited	Biomarker	[6]
CIC	OTFXCHNZ	Limited	Biomarker	[6]
GFI1	OT9HB9H8	Limited	Biomarker	[7]
PPP2R2B	OTSFVC82	Limited	Biomarker	[8]
RBM17	OT9ROJCL	Limited	Biomarker	[6]
TTBK2	OT90YSM5	Limited	Biomarker	[9]
ATXN7	OTL3YF1H	moderate	Biomarker	[10]
ACTR1A	OT1QAU16	Strong	Genetic Variation	[11]
AFG3L2	OTRPMAUX	Strong	Biomarker	[12]
ANGPTL1	OTXIN6V5	Strong	Genetic Variation	[11]
ANK2	OTWB4R1Y	Strong	Biomarker	[13]
APOBEC2	OT4CCS0Q	Strong	Genetic Variation	[11]
ARFRP1	OTP1OV78	Strong	Genetic Variation	[11]
BBS1	OTXSXB1K	Strong	Biomarker	[14]
NR2F2	OTJFS67N	Strong	Genetic Variation	[11]
SDHAF2	OT0UG9H5	Strong	Genetic Variation	[14]
SPTBN2	OTDMJ75N	Strong	Autosomal dominant	[15]
ATXN1L	OTYIHGTD	Definitive	Therapeutic	[16]
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⏷ Show the Full List of 18 DOT(s)

References

1	Levodopa-induced dyskinesias in spinocerebellar ataxia type 2.Arch Neurol. 2010 Jan;67(1):114-5. doi: 10.1001/archneurol.2009.291.
2	The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit.Med Hypotheses. 2007;68(1):131-6. doi: 10.1016/j.mehy.2006.06.014. Epub 2006 Aug 8.
3	FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9.
4	Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. Genes Cells. 2010 May;15(5):425-38. doi: 10.1111/j.1365-2443.2010.01395.x. Epub 2010 Apr 11.
5	Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.Clin Genet. 2019 Aug;96(2):169-175. doi: 10.1111/cge.13562. Epub 2019 Jun 5.
6	Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.Nature. 2008 Apr 10;452(7188):713-8. doi: 10.1038/nature06731. Epub 2008 Mar 12.
7	The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins.Cell. 2005 Aug 26;122(4):633-44. doi: 10.1016/j.cell.2005.06.012.
8	The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission.J Biol Chem. 2008 Dec 26;283(52):36241-8. doi: 10.1074/jbc.M800989200. Epub 2008 Oct 21.
9	Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec;39(12):1434-6. doi: 10.1038/ng.2007.43. Epub 2007 Nov 25.
10	Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.Int J Clin Exp Med. 2014 Dec 15;7(12):5896-903. eCollection 2014.
11	Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.Hum Mol Genet. 2010 Sep 15;19(18):3634-41. doi: 10.1093/hmg/ddq279. Epub 2010 Jul 5.
12	Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.
13	-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization.Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9376-E9385. doi: 10.1073/pnas.1707108114. Epub 2017 Oct 16.
14	A 3-Mb sequence-ready contig map encompassing the multiple disease gene cluster on chromosome 11q13.1-q13.3.DNA Res. 1997 Aug 31;4(4):281-9. doi: 10.1093/dnares/4.4.281.
15	Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006 Feb;38(2):184-90. doi: 10.1038/ng1728. Epub 2006 Jan 22.
16	Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet. 2007 Mar;39(3):373-9. doi: 10.1038/ng1977. Epub 2007 Feb 18.