Autosomal dominant spastic ataxia 1

General Information (adopted from Orphanet):

Synonyms, Signs: SPAX1
Number of Symptoms 14
OrphanetNr: 251282
OMIM Id: 108600
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant spastic ataxia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000508) Ptosis 459 / 7739
2
(HPO:0000514) Slow saccadic eye movements 21 / 7739
3
(HPO:0000605) Supranuclear gaze palsy 16 / 7739
4
(HPO:0002497) Spastic ataxia 13 / 7739
5
(HPO:0001288) Gait disturbance 318 / 7739
6
(HPO:0001347) Hyperreflexia 363 / 7739
7
(HPO:0002354) Memory impairment 63 / 7739
8
(HPO:0001260) Dysarthria 329 / 7739
9
(HPO:0001258) Spastic paraplegia 97 / 7739
10
(HPO:0001332) Dystonia 197 / 7739
11
(HPO:0002015) Dysphagia 301 / 7739
12
(HPO:0001761) Pes cavus 225 / 7739
13
(HPO:0008969) Leg muscle stiffness 5 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with ...
Clinical Description OMIM Mahloudji (1963) described a rare hereditary syndrome of spastic ataxia, closely resembling disseminated sclerosis (126200), in 18 persons in an Iranian family. The pedigree, covering 5 generations, strongly suggests autosomal dominant transmission. It appears to be the same ...