Early-onset progressive neurodegeneration - blindness - ataxia - spasticity

General Information (adopted from Orphanet):

Synonyms, Signs: NDGOA
Number of Symptoms 22
OrphanetNr: 352654
OMIM Id: 615491
ICD-10:
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 syndromic optic atrophy
 -Rare eye disease
 -Rare genetic disease
Genetic neurodegenerative disease
 -Rare genetic disease
Rare neurodegenerative disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000529) Progressive visual loss 54 / 7739
2
 (HPO:0000572) Visual loss 272 / 7739
3
 (HPO:0000648) Optic atrophy 238 / 7739
4
 (HPO:0000639) Nystagmus 555 / 7739
5
 (HPO:0002411) Myokymia 10 / 7739
6
 (HPO:0001347) Hyperreflexia 363 / 7739
7
 (HPO:0003487) Babinski sign 179 / 7739
8
 (HPO:0001251) Ataxia 413 / 7739
9
 (HPO:0001310) Dysmetria 76 / 7739
10
 (HPO:0002599) Head titubation 7 / 7739
11
 (HPO:0002486) Myotonia rare [HPO:skoehler] 29 / 7739
12
 (HPO:0003676) Progressive disorder 148 / 7739
13
 (OMIM) Normal electroretinogram 4 / 7739
14
 (HPO:0001272) Cerebellar atrophy 197 / 7739
15
 (OMIM) Impaired distal sensation to vibration and position 1 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Intellectual impairment, mild 3 / 7739
18
 (HPO:0002059) Cerebral atrophy 171 / 7739
19
 (HPO:0002180) Neurodegeneration 31 / 7739
20
 (OMIM) Spasticity of the lower limbs 5 / 7739
21
 (OMIM) Inability to stand without assistance 1 / 7739
22
 (OMIM) Absent visual-evoked potentials 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bilguvar et al. (2013) reported a consanguineous Turkish family in which 3 of 6 sibs had a neurodegenerative disorder with onset in early childhood. The affected children had normal early development, but developed progressive visual loss around age ...
Molecular genetics OMIM In 3 sibs, born of consanguineous Turkish parents, with early-onset neurodegeneration with optic atrophy, Bilguvar et al. (2013) identified a homozygous missense mutation in the UCHL1 gene (E7A; 191342.0003). The mutation, which was found by homozygosity mapping and ...