Autosomal recessive spastic ataxia with leukoencephalopathy

General Information (adopted from Orphanet):

Synonyms, Signs: ARSAL
SPAX3
Autosomal recessive spastic ataxia type 3
Number of Symptoms 26
OrphanetNr: 314603
OMIM Id: 611390
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
16672289 [IBIS]
Age of onset: Childhood
Adolescent
Adult
16672289 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive spastic ataxia
 -Rare genetic disease
 -Rare neurologic disease
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Comment:

MARS2 (= COXPD25, MetRS, mtMetRS), located on chromosome 2q33.1, is mutated in Autosomal Recessive Spastic Ataxia with Leukoencephalopathy (ARSAL) patients.

Symptom Information: Sort by abundance 

1
 (HPO:0000518) Cataract Occasional [IBIS] 9% (n=23) 16672289 IBIS 454 / 7739
2
 (HPO:0000648) Optic atrophy Occasional [IBIS] 9% (n=23) 16672289 IBIS 238 / 7739
3
 (HPO:0000666) Horizontal nystagmus Frequent [IBIS] 44% (n=23) 16672289 IBIS 32 / 7739
4
 (HPO:0008972) Decreased activity of mitochondrial respiratory chain 22448145 IBIS 34 / 7739
5
 (HPO:0011923) Decreased activity of mitochondrial complex I 22448145 IBIS 35 / 7739
6
 (HPO:0002352) Leukoencephalopathy Frequent [IBIS] 52% [HPO:skoehler] 16672289 IBIS 32 / 7739
7
 (HPO:0001251) Ataxia Very frequent [IBIS] 100% (n=23) 16672289 IBIS 413 / 7739
8
 (HPO:0002066) Gait ataxia 16672289 IBIS 327 / 7739
9
 (HPO:0002497) Spastic ataxia Very frequent [IBIS] 100% (n=23) 16672289 IBIS 13 / 7739
10
 (HPO:0001347) Hyperreflexia Very frequent [IBIS] 100% (n=23) 16672289 IBIS 363 / 7739
11
 (HPO:0001257) Spasticity Very frequent [IBIS] 100% (n=23) 16672289 IBIS 251 / 7739
12
 (HPO:0002464) Spastic dysarthria Frequent [IBIS] 74% (n=23) 16672289 IBIS 5 / 7739
13
 (HPO:0001332) Dystonia Frequent [IBIS] 57% (n=23) 16672289 IBIS 197 / 7739
14
 (HPO:0001260) Dysarthria Frequent [IBIS] 74% [HPO:probinson] 74% (n=23) 16672289 IBIS 329 / 7739
15
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 44% (n=23) 16672289 IBIS 230 / 7739
16
 (HPO:0002650) Scoliosis Frquent [IBIS] 35% [HPO] 35% (n=23) 16672289 IBIS 705 / 7739
17
 (HPO:0000011) Neurogenic bladder Frequent [IBIS] 57% (n=23) 16672289 IBIS 11 / 7739
18
 (HPO:0000012) Urinary urgency Frequent [IBIS] 57% [HPO] 57% (n=23) 16672289 IBIS 35 / 7739
19
 (HPO:0000365) Hearing impairment 16672289 IBIS 539 / 7739
20
 (HPO:0002500) Abnormality of the cerebral white matter Frequent [IBIS] 52% (n=23) 16672289 IBIS 73 / 7739
21
 (HPO:0001273) Abnormality of the corpus callosum 16672289 IBIS 20 / 7739
22
 (HPO:0001272) Cerebellar atrophy Very frequent [IBIS] 100% (n=23) 16672289 IBIS 197 / 7739
23
 (HPO:0002059) Cerebral atrophy Frequent [IBIS] 43% (n=23) 16672289 IBIS 171 / 7739
24
 (HPO:0002120) Cerebral cortical atrophy Occasional [IBIS] 16672289 IBIS 187 / 7739
25
 (HPO:0012712) Mild hearing impairment Occasional [IBIS] 13% (n=23) 16672289 IBIS 3 / 7739
26
 (MedDRA:10047920) Wheelchair user Frequent [IBIS] 52% (n=23) 16672289 IBIS 3 / 7739

Associated genes:

MARS2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Thiffault et al. (2006) reported 23 French Canadian individuals from 17 families with spastic ataxia and brain white matter changes. The transmission pattern was consistent with autosomal recessive inheritance. Age at onset ranged from 2 to 59 years ...