Autosomal recessive cerebellar ataxia with late-onset spasticity
Synonyms: Autosomal recessive cerebellar ataxia due to GBA2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebellar ataxia with late-onset spasticity | Autosomal recessive cerebellar ataxia due to GBA2 deficiency |
| fr | Ataxie cérébelleuse autosomique récessive avec spasticité tardive | Ataxie cérébelleuse autosomique récessive par déficit en GBA2 |
| de | Zerebelläre Ataxie, autosomal-rezessive, mit spät-einsetzender Spastik | |
| es | Ataxia cerebelosa autosómica recesiva con espasticidad de inicio tardío | Ataxia cerebelosa autosómica recesiva por deficiencia de GBA2 |
| it | Atassia cerebellare autosomica recessiva con spasticità a esordio tardivo | Atassia cerebellare autosomica recessiva da deficit di GBA2 |
| nl | Autosomaal recessieve cerebellaire ataxie met laat optredende spasticiteit | Autosomaal recessieve cerebellaire ataxie door GBA2-deficiëntie |
| pt | Ataxia cerebelosa com espasticidade autossómica recessiva de início tardio | |
| pl | Autosomalna recesywna ataksja móżdżkowa ze spastycznością o późnym początku | Autosomalna recesywna ataksja móżdżkowa z powodu niedoboru GBA2 |
| cs | Autozomálně recesivní cerebelární ataxie se spasticitou s pozdním nástupem | Autozomálně recesivní cerebelární ataxie způsobená deficitem GBA2 |
| uk | Аутосомно-рецесивна мозочкова атаксія з пізньою спастичністю | Аутосомно-рецесивна мозочкова атаксія внаслідок дефіциту GBA2 |
| zh | 常染色体隐性遗传性小脑共济失调伴迟发性痉挛 | GBA2缺乏所致常染色体隐性遗传性小脑共济失调 |
| tr | Geç başlangıçlı spastisite ile seyreden otozomal resesif serebellar ataksi | GBA2 eksikliğine bağlı otozomal çekinik serebellar ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | attributed | validated |
| MONDO | 0018129 | E | validated | |
| UMLS | C4706412 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79225Sphingolipidosis
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GBA2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18986 | ENSG00000070610 | 609471 | 9p13.3 | glucosylceramidase beta 2 | 23332917[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 23332917[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
26 annotations · validated 2018-11-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0001348 | Brisk reflexes | |
| HP:0002015 | Dysphagia | |
| HP:0002066 | Gait ataxia | |
| HP:0010831 | Impaired proprioception | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000639 | Nystagmus | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0002464 | Spastic dysarthria | |
| Occasional (29-5%) | ||
| HP:0002059 | Cerebral atrophy | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002346 | Head tremor | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0001761 | Pes cavus | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000020 | Urinary incontinence | |
| Very rare (<4-1%) | ||
| HP:0001256 | Intellectual disability, mild | |
| HP:0002078 | Truncal ataxia | |
| Excluded (0%) | ||
| HP:0004905 | Low levels of vitamin A | |
| HP:0100513 | Low levels of vitamin E | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 23332917[PMID]_24252062[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352641
- This record as JSON: /data/d/352641.json