Details of Disease

General Information of Disease (ID: DISJXO7P)

• Disease Name: Spinocerebellar ataxia type 17
• Synonyms: olivopontocerebellar atrophy V; CPD, late-onset recessive type; spinocerebellar ataxia 17; Huntington disease-like 4; olivopontocerebellar atrophy 5; spinocerebellar ataxia type 17; SCA17; OPCA with dementia and extrapyramidal signs; CPD2; SCA 17; OPCA V; HDL4; cerebelloparenchymal disorder II; olivopontocerebellar atrophy type 5
• Definition: A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
• Disease Hierarchy:
  DIS947AF: Autosomal dominant cerebellar ataxia type I
  DISL9HO7: Cerebelloparenchymal disorder
  DIS6BW88: Huntington disease-like syndrome
  DISJXO7P: Spinocerebellar ataxia type 17
• Disease Identifiers:
  MONDO ID: MONDO_0011781
  MESH ID: C564616
  UMLS CUI: C1846707
  OMIM ID: 607136
  MedGen ID: 337637
  Orphanet ID: 98759
  SNOMED CT ID: 719249005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MANF	TT56RYE	moderate	Biomarker	[1]
CIT	TT3BKTU	Strong	Biomarker	[2]
HMOX1	TTI6V2A	Strong	Biomarker	[3]
HSPA5	TTW26OG	Strong	Biomarker	[3]
HSPA8	TTMQL3K	Strong	Biomarker	[3]
NQO1	TT8XK6L	Strong	Biomarker	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PARK7	DEPOVCH	Strong	Altered Expression	[4]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TSHZ1	OTYQ9ECW	Limited	Altered Expression	[4]
ATXN7	OTL3YF1H	moderate	Biomarker	[5]
HAP1	OT6SG0JQ	moderate	Biomarker	[6]
JPH3	OTHTJO2I	moderate	Genetic Variation	[7]
ATN1	OTNZFLKY	Strong	Genetic Variation	[8]
P4HB	OTTYNYPF	Strong	Biomarker	[3]
ATP5F1B	OTLFZUQK	Definitive	Biomarker	[3]
HYOU1	OTBGBSOV	Definitive	Biomarker	[3]
PDIA3	OTHPQ0Q3	Definitive	Biomarker	[3]
TBP	OT6C0S52	Definitive	Autosomal dominant	[9]

References

• [1] Piperine ameliorates SCA17 neuropathology by reducing ER stress.Mol Neurodegener. 2018 Jan 30;13(1):4. doi: 10.1186/s13024-018-0236-x.
• [2] Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.Mov Disord. 2006 Jun;21(6):872-5. doi: 10.1002/mds.20827.
• [3] Downregulation of proteins involved in the endoplasmic reticulum stress response and Nrf2-ARE signaling in lymphoblastoid cells of spinocerebellar ataxia type 17. J Neural Transm (Vienna). 2014 Jun;121(6):601-10.
• [4] SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications.Clin Chim Acta. 2010 Mar;411(5-6):375-80. doi: 10.1016/j.cca.2009.12.002. Epub 2009 Dec 11.
• [5] Friedreich's ataxia and other hereditary ataxias in Greece: an 18-year perspective.J Neurol Sci. 2014 Jan 15;336(1-2):87-92. doi: 10.1016/j.jns.2013.10.012. Epub 2013 Oct 16.
• [6] HAP1 can sequester a subset of TBP in cytoplasmic inclusions via specific interaction with the conserved TBP(CORE).BMC Mol Biol. 2007 Sep 14;8:76. doi: 10.1186/1471-2199-8-76.
• [7] Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.Neurol Neurochir Pol. 2008 May-Jun;42(3):203-9.
• [8] Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor.Parkinsonism Relat Disord. 2015 Aug;21(8):943-7. doi: 10.1016/j.parkreldis.2015.06.004. Epub 2015 Jun 6.
• [9] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.