ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: ADSA
SNAX1
Number of Symptoms 17
OrphanetNr:
OMIM Id: 608984
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003487) Babinski sign 179 / 7739
2
(HPO:0010871) Sensory ataxia 7 / 7739
3
(HPO:0001284) Areflexia 198 / 7739
4
(HPO:0003409) Distal sensory impairment of all modalities 3 / 7739
5
(HPO:0001265) Hyporeflexia 208 / 7739
6
(HPO:0006962) Gait instability, worse in the dark 1 / 7739
7
(HPO:0002403) Positive Romberg sign 11 / 7739
8
(OMIM) Normal sensory action potentials 1 / 7739
9
(OMIM) Normal compound motor action potentials 1 / 7739
10
(HPO:0003581) Adult onset 117 / 7739
11
(OMIM) Axonal spheroids in the dorsal column 1 / 7739
12
(OMIM) Normal sural nerve biopsy 1 / 7739
13
(OMIM) Somatosensory evoked potentials show prolonged latency 1 / 7739
14
(OMIM) Distal sensory loss to all modalities, lower limbs more affected than upper limbs 1 / 7739
15
(OMIM) No cerebellar signs 1 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(OMIM) Neuroaxonal dystrophy 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Valdmanis et al. (2004) reported a Canadian family of Anglo-Saxon origin from New Brunswick in which 10 members were affected with a sensory ataxia inherited in an autosomal dominant pattern. Age at onset ranged from 28 to 55 ...
Molecular genetics OMIM In affected members of 2 Canadian families with autosomal dominant sensory ataxia-1, Valdmanis et al. (2011) identified a heterozygous mutation in the RNF170 gene (R199C; 614649.0001). The mutation was found by exome sequencing of the candidate region on ...