MCID: LKN017
MIFTS: 23

Leukoencephalopathy with Ataxia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy with Ataxia

MalaCards integrated aliases for Leukoencephalopathy with Ataxia:

Name: Leukoencephalopathy with Ataxia 54 71 29 69
Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema 56
Lkpat 71

Characteristics:

Orphanet epidemiological data:

56
leukoencephalopathy with mild cerebellar ataxia and white matter edema
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
two peaks of onset, childhood and adult
variable clinical features


HPO:

32
leukoencephalopathy with ataxia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 615651
Orphanet 56 ORPHA363540
ICD10 via Orphanet 34 E75.2

Summaries for Leukoencephalopathy with Ataxia

OMIM : 54
Leukoencephalopathy with ataxia is an autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient (ADC) values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles. The findings suggest myelin microvacuolation restricted to certain brain regions. Clinical features include ataxia and unstable gait; more variable abnormalities may include visual field defects, headaches, and learning disabilities (summary by Depienne et al., 2013). (615651)

MalaCards based summary : Leukoencephalopathy with Ataxia, also known as leukoencephalopathy with mild cerebellar ataxia and white matter edema, is related to leukoencephalopathy with ataxia due to clc-2 deficiency, and has symptoms including headache, gait ataxia and limb ataxia. An important gene associated with Leukoencephalopathy with Ataxia is CLCN2 (Chloride Voltage-Gated Channel 2). The drug Ubiquinone has been mentioned in the context of this disorder. Affiliated tissues include pons and brain.

UniProtKB/Swiss-Prot : 71 Leukoencephalopathy with ataxia: An autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities.

Related Diseases for Leukoencephalopathy with Ataxia

Diseases related to Leukoencephalopathy with Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 leukoencephalopathy with ataxia due to clc-2 deficiency 12.0

Symptoms & Phenotypes for Leukoencephalopathy with Ataxia

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
headache
gait ataxia
limb ataxia
leukoencephalopathy
learning disabilities (in some patients)
more
Head And Neck- Eyes:
visual field defects (in some patients)
chorioretinopathy (in some patients)
optic neuropathy (in some patients)


Clinical features from OMIM:

615651

Human phenotypes related to Leukoencephalopathy with Ataxia:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 headache 32 HP:0002315
2 gait ataxia 32 HP:0002066
3 limb ataxia 32 HP:0002070
4 leukoencephalopathy 32 HP:0002352
5 visual field defect 32 occasional (7.5%) HP:0001123
6 optic neuropathy 32 occasional (7.5%) HP:0001138
7 chorioretinal abnormality 32 occasional (7.5%) HP:0000532

UMLS symptoms related to Leukoencephalopathy with Ataxia:


headache, gait ataxia

Drugs & Therapeutics for Leukoencephalopathy with Ataxia

Drugs for Leukoencephalopathy with Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetics of Progressive Multifocal Leukoencephalopathy and Acquired Immunodeficiency Syndrome Completed NCT00342602
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
4 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Leukoencephalopathy with Ataxia

Genetic Tests for Leukoencephalopathy with Ataxia

Genetic tests related to Leukoencephalopathy with Ataxia:

id Genetic test Affiliating Genes
1 Leukoencephalopathy with Ataxia 29

Anatomical Context for Leukoencephalopathy with Ataxia

MalaCards organs/tissues related to Leukoencephalopathy with Ataxia:

39
Pons, Brain

Publications for Leukoencephalopathy with Ataxia

Variations for Leukoencephalopathy with Ataxia

UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy with Ataxia:

71
id Symbol AA change Variation ID SNP ID
1 CLCN2 p.Ala500Val VAR_070977 rs587777111

ClinVar genetic disease variations for Leukoencephalopathy with Ataxia:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 CLCN2 NM_004366.5(CLCN2): c.704G> A (p.Arg235Gln) single nucleotide variant risk factor rs71318369 GRCh37 Chromosome 3, 184075476: 184075476
2 CLCN2 NM_004366.5(CLCN2): c.1730G> A (p.Arg577Gln) single nucleotide variant risk factor rs137852682 GRCh37 Chromosome 3, 184071575: 184071575
3 CLCN2 NM_004366.5(CLCN2): c.1709G> A (p.Trp570Ter) single nucleotide variant Pathogenic rs201330912 GRCh37 Chromosome 3, 184071901: 184071901
4 CLCN2 NM_004366.5(CLCN2): c.430_435delCTCATC (p.Leu144_Ile145del) deletion Pathogenic rs587777110 GRCh37 Chromosome 3, 184076016: 184076021
5 CLCN2 NM_004366.5(CLCN2): c.1499C> T (p.Ala500Val) single nucleotide variant Pathogenic rs587777111 GRCh37 Chromosome 3, 184072344: 184072344
6 CLCN2 NM_004366.5(CLCN2): c.828dupG (p.Arg277Alafs) duplication Pathogenic rs587777112 GRCh37 Chromosome 3, 184075220: 184075220
7 CLCN2 NM_004366.5(CLCN2): c.2386C> T (p.Gln796Ter) single nucleotide variant Pathogenic rs376823689 GRCh37 Chromosome 3, 184069830: 184069830
8 CLCN2 NM_004366.5(CLCN2): c.1412G> A (p.Arg471His) single nucleotide variant Pathogenic rs771507094 GRCh37 Chromosome 3, 184072431: 184072431
9 CLCN2 NM_004366.5(CLCN2): c.1957A> T (p.Arg653Ter) single nucleotide variant Pathogenic rs863225256 GRCh38 Chromosome 3, 184353321: 184353321
10 CLCN2 NM_004366.5(CLCN2): c.1795G> A (p.Asp599Asn) single nucleotide variant Pathogenic rs141242566 GRCh38 Chromosome 3, 184353722: 184353722
11 CLCN2 NM_004366.5(CLCN2): c.1507G> A (p.Gly503Arg) single nucleotide variant Pathogenic rs777105668 GRCh38 Chromosome 3, 184354548: 184354548
12 CLCN2 NM_004366.5(CLCN2): c.1422_1423delTG (p.Glu475Lysfs) deletion Pathogenic rs863225255 GRCh37 Chromosome 3, 184072420: 184072421
13 CLCN2 NM_004366.5(CLCN2): c.1397G> A (p.Gly466Glu) single nucleotide variant Pathogenic rs863225254 GRCh38 Chromosome 3, 184354658: 184354658
14 CLCN2 NM_004366.5(CLCN2): c.1304delT (p.Leu435Argfs) deletion Pathogenic rs863225253 GRCh37 Chromosome 3, 184073184: 184073184
15 CLCN2 NM_004366.5(CLCN2): c.1143delT (p.Gly382Alafs) deletion Pathogenic rs863225252 GRCh38 Chromosome 3, 184355721: 184355721
16 CLCN2 NM_004366.5(CLCN2): c.1113delCinsACTGCTCAT (p.Ser375Cysfs) indel Pathogenic rs863225251 GRCh37 Chromosome 3, 184073539: 184073539
17 CLCN2 NM_004366.5(CLCN2): c.1015G> C (p.Val339Leu) single nucleotide variant Pathogenic rs532632165 GRCh37 Chromosome 3, 184074851: 184074851
18 CLCN2 NM_004366.5(CLCN2): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic rs863225250 GRCh38 Chromosome 3, 184357240: 184357240
19 CLCN2 NM_004366.5(CLCN2): c.64-1107_639del (p.Met22LeufsTer5) deletion Pathogenic GRCh38 Chromosome 3, 184357833: 184360238
20 CLCN2 NM_004366.5(CLCN2): c.292G> C (p.Gly98Arg) single nucleotide variant Pathogenic rs863225249 GRCh38 Chromosome 3, 184358742: 184358742

Expression for Leukoencephalopathy with Ataxia

Search GEO for disease gene expression data for Leukoencephalopathy with Ataxia.

Pathways for Leukoencephalopathy with Ataxia

GO Terms for Leukoencephalopathy with Ataxia

Sources for Leukoencephalopathy with Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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