Details of Disease

General Information of Disease (ID: DISYMHUK)

• Disease Name: Spinocerebellar ataxia
• Synonyms: Pierre Marie cerebellar ataxia (formerly); SCA; spinocerebellar ataxia; cerebellar ataxia, autosomal dominant; autosomal dominant spinocerebellar ataxia; Autosomal Dominant Hereditary Ataxia; ADCA
• Disease Class: 8A03: Ataxic disorder
• Definition: A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.
• Disease Hierarchy:
  DIS17A1W: Hereditary cerebellar ataxia
  DISFWL8F: Hereditary dementia
  DISPN7D2: Inherited neurodegenerative disorder
  DIS3HIWD: Autosomal dominant disease
  DISPBCM3: Cerebellar degeneration
  DISYMHUK: Spinocerebellar ataxia
• ICD Code:
  ICD-11: ICD-11: 8A03.16
  Expand ICD-11: '8A03.16
• Disease Identifiers:
  MONDO ID: MONDO_0020380
  UMLS CUI: C4087347
  MedGen ID: 1684639
  Orphanet ID: 99

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
CAD-1833	DMA1QUC	Phase 1	NA	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGF14	TTKJX1V	Limited	Genetic Variation	[2]
KCND3	TTPLQO0	Limited	Genetic Variation	[3]
CACNA1A	TTX4QDJ	Strong	Biomarker	[4]
CACNA1G	TT729IR	Strong	Genetic Variation	[5]
PRKCG	TTRFOXJ	Strong	Genetic Variation	[6]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	Strong	Biomarker	[7]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AFG3L2	OTRPMAUX	Limited	Biomarker	[8]
ATXN7	OTL3YF1H	Limited	Genetic Variation	[9]
LY6E	OTMG16BZ	Limited	Genetic Variation	[9]
PMPCA	OT5X1G9Q	Limited	Genetic Variation	[10]
PRPH	OT6VUH78	Limited	Genetic Variation	[10]
SPTBN2	OTDMJ75N	Limited	Genetic Variation	[11]
ATXN1	OTQF0HNR	Strong	Genetic Variation	[12]
PDYN	OTEJ6430	Strong	Genetic Variation	[13]
PLEKHG4	OT3RBPFL	Strong	Genetic Variation	[14]
PPP2R2B	OTSFVC82	Strong	Genetic Variation	[15]
TBP	OT6C0S52	Strong	Biomarker	[16]
TSHZ1	OTYQ9ECW	Strong	Biomarker	[16]
ARHGEF28	OT3F32IU	Definitive	Genetic Variation	[17]
ATOX1	OT05LF59	Definitive	Genetic Variation	[18]

References

• [1] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [2] A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].Am J Hum Genet. 2003 Jan;72(1):191-9. doi: 10.1086/345488. Epub 2002 Dec 13.
• [3] Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.Hum Genet. 2002 Oct;111(4-5):388-93. doi: 10.1007/s00439-002-0782-7. Epub 2002 Aug 30.
• [4] Spinocerebellar ataxia type 6 in Brazil.Arq Neuropsiquiatr. 2008 Sep;66(3B):691-4. doi: 10.1590/s0004-282x2008000500015.
• [5] A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007. Epub 2015 Oct 8.
• [6] SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.Acta Neurol Scand. 2012 Feb;125(2):116-22. doi: 10.1111/j.1600-0404.2011.01504.x. Epub 2011 Mar 21.
• [7] Cerebral blood flow in spinocerebellar degenerations: a single photon emission tomography study in 28 patients.J Neurol. 1998 Sep;245(9):603-8. doi: 10.1007/s004150050253.
• [8] SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.Brain. 2006 Jan;129(Pt 1):235-42. doi: 10.1093/brain/awh651. Epub 2005 Oct 26.
• [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] Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.Ann Neurol. 1994 Apr;35(4):439-44. doi: 10.1002/ana.410350411.
• [11] Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.Hum Mol Genet. 1995 Aug;4(8):1441-5. doi: 10.1093/hmg/4.8.1441.
• [12] An out-of-frame overlapping reading frame in the ataxin-1 coding sequence encodes a novel ataxin-1 interacting protein.J Biol Chem. 2013 Jul 26;288(30):21824-35. doi: 10.1074/jbc.M113.472654. Epub 2013 Jun 12.
• [13] Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration.Neuropsychology. 2017 Mar;31(3):292-303. doi: 10.1037/neu0000322. Epub 2016 Nov 21.
• [14] Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.J Hum Genet. 2007;52(10):848-855. doi: 10.1007/s10038-007-0182-x. Epub 2007 Sep 5.
• [15] Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12.Arch Neurol. 2010 Oct;67(10):1257-62. doi: 10.1001/archneurol.2010.231.
• [16] The Pathogenic Role of Low Range Repeats in SCA17.PLoS One. 2015 Aug 12;10(8):e0135275. doi: 10.1371/journal.pone.0135275. eCollection 2015.
• [17] An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.Am J Hum Genet. 2005 Aug;77(2):280-96. doi: 10.1086/432518. Epub 2005 Jul 6.
• [18] Spinocerebellar ataxia type 1.Handb Clin Neurol. 2012;103:399-421. doi: 10.1016/B978-0-444-51892-7.00025-5.