Early-onset spastic ataxia-neuropathy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SPAX5
AFG3L2-associated spastic ataxia-neuropathy syndrome
Autosomal recessive spastic ataxia type 5
Number of Symptoms 29
OrphanetNr: 313772
OMIM Id: 614487
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive spastic ataxia
 -Rare genetic disease
 -Rare neurologic disease
Mitochondrial DNA depletion syndrome
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare gastroenterologic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000508) Ptosis 459 / 7739
2
 (HPO:0000657) Oculomotor apraxia 54 / 7739
3
 (HPO:0002015) Dysphagia 301 / 7739
4
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
5
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
6
 (HPO:0001260) Dysarthria 329 / 7739
7
 (HPO:0002497) Spastic ataxia 13 / 7739
8
 (HPO:0002313) Spastic paraparesis 33 / 7739
9
 (HPO:0001251) Ataxia 413 / 7739
10
 (HPO:0001332) Dystonia 197 / 7739
11
 (HPO:0001336) Myoclonus 115 / 7739
12
 (HPO:0001257) Spasticity 251 / 7739
13
 (HPO:0007141) Sensorimotor neuropathy 27 / 7739
14
 (HPO:0001310) Dysmetria 76 / 7739
15
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
16
 (HPO:0012240) Increased intramyocellular lipid droplets 7 / 7739
17
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
18
 (HPO:0001324) Muscle weakness 859 / 7739
19
 (OMIM) Sural nerve biopsy shows chronic demyelinating/remyelinating process 1 / 7739
20
 (HPO:0001272) Cerebellar atrophy 197 / 7739
21
 (HPO:0003593) Infantile onset 249 / 7739
22
 (OMIM) Axonal peripheral sensorimotor neuropathy 3 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (OMIM) Decreased mtDNA 1 / 7739
25
 (OMIM) Distal muscle atrophy, affecting the lower limbs 1 / 7739
26
 (OMIM) Skeletal muscle biopsy shows misplaced mitochondria 1 / 7739
27
 (OMIM) Distal muscle weakness, affecting the lower limbs 1 / 7739
28
 (HPO:0003676) Progressive disorder 148 / 7739
29
 (OMIM) Large lipid droplets 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy (summary by Pierson et al., 2011).

For a discussion of ...
Clinical Description OMIM Pierson et al. (2011) reported 2 brothers, born of consanguineous Hispanic parents from Colombia, with early-onset spinocerebellar ataxia with spasticity and myoclonic epilepsy. Their disease courses were similar, although the younger sib had a more severe phenotype and ...
Molecular genetics OMIM By whole-exome sequencing of 2 brothers with early-onset spastic ataxia, Pierson et al. (2011) identified a homozygous mutation in the AFG3L2 gene (Y616C; 604581.0010). Both parents, who were heterozygous carriers of the mutation, were without neurologic complaints and ...