ORPHA:101109
Spinocerebellar ataxia type 28
Synonyms: SCA28
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 28 | SCA28 |
| fr | Ataxie spinocérébelleuse type 28 | = en |
| de | Ataxie, spinozerebelläre, Typ 28 | = en |
| es | Ataxia espinocerebolosa tipo 28 | = en |
| it | Atassia spinocerebellare, tipo 28 | = en |
| nl | Spinocerebellaire ataxie type 28 | = en |
| pt | Ataxia espinocerebelosa tipo 28 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 28 | = en |
| cs | Spinocerebelární ataxie, typ 28 | = en |
| uk | Спіноцеребеллярна атаксія, тип 28 | = en |
| zh | 脊髓小脑共济失调28型 | = en |
| tr | Spinoserebellar ataksi tip 28 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610246 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0012450 | E | validated | |
| MeSH | C537205 | E | validated | |
| UMLS | C1853249 | E | validated | |
| GARD | 9951 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AFG3L2 | Disease-causing germline mutation(s) in | Assessed | HGNC:315 | ENSG00000141385 | 604581 | 18p11.21 | AFG3 like matrix AAA peptidase subunit 2 |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
20 annotations · validated 2018-03-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0002070 | Limb ataxia | |
| HP:0002395 | Lower limb hyperreflexia | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0000639 | Nystagmus | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000508 | Ptosis | |
| HP:0000514 | Slow saccadic eye movements | |
| Occasional (29-5%) | ||
| HP:0030186 | Kinetic tremor | |
| HP:0001300 | Parkinsonism | |
| Very rare (<4-1%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0100543 | Cognitive impairment | |
| HP:0000716 | Depression | |
| HP:0001332 | Dystonia | |
| HP:0002346 | Head tremor | |
| HP:0002451 | Limb dystonia | |
| HP:0002354 | Memory impairment | |
| HP:0002063 | Rigidity | |
| HP:0001257 | Spasticity | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 16251216[PMID]_20725928[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101109
- This record as JSON: /data/d/101109.json