MCID: SPS209
MIFTS: 13

Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy

Categories: Genetic diseases

Aliases & Classifications for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

MalaCards integrated aliases for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy:

Name: Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy 57 75 6
Spax8 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first year of life
most patients become wheelchair-bound
three consanguineous families have been reported (last curated july 2017)


Classifications:



External Ids:

OMIM 57 617560
MeSH 44 D020279

Summaries for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

OMIM : 57 Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600). (617560)

MalaCards based summary : Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy, is also known as spax8. An important gene associated with Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy is NKX6-2 (NK6 Homeobox 2). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot : 75 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy: An autosomal recessive neurodegenerative disorder characterized by early-onset hypotonia which progresses to a pyramidal syndrome with ataxia, spasticity, hyperreflexia, weakness and loss of ambulation. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy.

Related Diseases for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

Symptoms & Phenotypes for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
hypometric saccades
abnormal eye movements
limited eye movements

Neurologic Peripheral Nervous System:
hyperreflexia

Head And Neck Head:
head titubation

Neurologic Central Nervous System:
spasticity
dysarthria
limb ataxia
dystonia
truncal ataxia
more
Muscle Soft Tissue:
hypotonia, neonatal


Clinical features from OMIM:

617560

Drugs & Therapeutics for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy

Genetic Tests for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

Anatomical Context for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

MalaCards organs/tissues related to Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy:

41
Brain, Eye

Publications for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

Variations for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

ClinVar genetic disease variations for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NKX6-2 NM_177400.2(NKX6-2): c.121A> T (p.Lys41Ter) single nucleotide variant Pathogenic rs1131692047 GRCh37 Chromosome 10, 134599332: 134599332
2 NKX6-2 NM_177400.2(NKX6-2): c.121A> T (p.Lys41Ter) single nucleotide variant Pathogenic rs1131692047 GRCh38 Chromosome 10, 132785828: 132785828
3 NKX6-2 NM_177400.2(NKX6-2): c.487C> G (p.Leu163Val) single nucleotide variant Pathogenic rs1131692048 GRCh37 Chromosome 10, 134598876: 134598876
4 NKX6-2 NM_177400.2(NKX6-2): c.487C> G (p.Leu163Val) single nucleotide variant Pathogenic rs1131692048 GRCh38 Chromosome 10, 132785372: 132785372

Expression for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

Search GEO for disease gene expression data for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy.

Pathways for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

GO Terms for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

Sources for Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....