Details of Disease | DrugMAP

General Information of Disease (ID: DISL571D)

Disease Name	Spinocerebellar ataxia type 28
Synonyms	spinocerebellar ataxia 28; spinocerebellar ataxia type 28; SCA28
Definition	Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
Disease Hierarchy	DIS947AF: Autosomal dominant cerebellar ataxia type I DISK7IP8: Mitochondrial oxidative phosphorylation disorder DISL571D: Spinocerebellar ataxia type 28
Disease Identifiers	MONDO ID MONDO_0012450 MESH ID C537205 UMLS CUI C1853249 OMIM ID 610246 MedGen ID 339941 Orphanet ID 101109 SNOMED CT ID 715824008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OMA1	OT0JRVY7	Strong	Biomarker	[1]
AFG3L2	OTRPMAUX	Definitive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.J Med Genet. 2019 Aug;56(8):499-511. doi: 10.1136/jmedgenet-2018-105766. Epub 2019 Mar 25.
2	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.