SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1

General Information (adopted from Orphanet):

Synonyms, Signs: ATAXIA-OCULOMOTOR APRAXIA 2
ATAXIA-OCULAR APRAXIA 2
SCAR1
AOA2
Number of Symptoms 38
OrphanetNr:
OMIM Id: 606002
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000524) Conjunctival telangiectasia 17 / 7739
2
(HPO:0001152) Saccadic smooth pursuit 6 / 7739
3
(HPO:0000486) Strabismus 576 / 7739
4
(HPO:0000657) Oculomotor apraxia 54 / 7739
5
(HPO:0000640) Gaze-evoked nystagmus 27 / 7739
6
(HPO:0002015) Dysphagia 301 / 7739
7
(HPO:0001271) Polyneuropathy 56 / 7739
8
(HPO:0002346) Head tremor 9 / 7739
9
(HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
10
(HPO:0006886) Impaired distal vibration sensation 8 / 7739
11
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
12
(HPO:0002072) Chorea 53 / 7739
13
(HPO:0007240) Progressive gait ataxia 7 / 7739
14
(HPO:0006937) Impaired distal tactile sensation 3 / 7739
15
(HPO:0001337) Tremor 200 / 7739
16
(HPO:0001260) Dysarthria 329 / 7739
17
(HPO:0001284) Areflexia 198 / 7739
18
(HPO:0001332) Dystonia 197 / 7739
19
(HPO:0001761) Pes cavus 225 / 7739
20
(HPO:0001838) Rocker bottom foot 85 / 7739
21
(HPO:0001822) Hallux valgus 70 / 7739
22
(HPO:0001765) Hammertoe 63 / 7739
23
(HPO:0001763) Pes planus 176 / 7739
24
(HPO:0002650) Scoliosis 705 / 7739
25
(HPO:0010702) Increased antibody level in blood 29 / 7739
26
(HPO:0006254) Elevated alpha-fetoprotein 10 / 7739
27
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
28
(HPO:0002460) Distal muscle weakness 122 / 7739
29
(HPO:0003693) Distal amyotrophy 118 / 7739
30
(OMIM) Sural nerve biopsy showed loss of large myelinated fibers 3 / 7739
31
(HPO:0006879) Pontocerebellar atrophy 6 / 7739
32
(OMIM) Absence of sensory action potentials 1 / 7739
33
(OMIM) Limb ataxia, progressive 1 / 7739
34
(OMIM) Dystonic hand posturing (44% of patients) 1 / 7739
35
(OMIM) Decreased distal proprioception (74% of patients) 1 / 7739
36
(OMIM) Sural nerve biopsy shows chronic axonal neuropathy 3 / 7739
37
(MedDRA:10057660) Spinocerebellar ataxia 4 / 7739
38
(HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ataxia-oculomotor apraxia-2 (AOA2) is a form of autosomal recessive cerebellar ataxia, a clinically and genetically heterogeneous group of neurodegenerative disorders (Moreira et al., 2004). However, because oculomotor apraxia is only an occasional feature of AOA2, Koenig (2001) urged ...
Clinical Description OMIM Bouchard et al. (1980) described a large French-Canadian family with an unusual neurologic disorder. The mother had 27 pregnancies; 10 males and 10 females survived. Of these, 3 females and 4 males, ranging in age from 21 to ...
Molecular genetics OMIM In affected members of 15 families with either AOA or ataxia with elevated AFP levels, Moreira et al. (2004) identified 15 different disease-associated mutations in the SETX gene (see, e.g., 608465.0001-608465.0005). All patients had either homozygous or compound ...
Population genetics OMIM Duquette et al. (2005) estimated that the carrier rate of the disease-causing L1976R mutation in the SETX gene was 3.5% in Quebecois of Anglo-Norman origin and 2.1% in the French-Canadian population of Gaspesie.

Anheim et al. ...