MCID: LKN010
MIFTS: 28

Leukoencephalopathy with Dystonia and Motor Neuropathy

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Leukoencephalopathy with Dystonia and Motor Neuropathy

MalaCards integrated aliases for Leukoencephalopathy with Dystonia and Motor Neuropathy:

Name: Leukoencephalopathy with Dystonia and Motor Neuropathy 57 53 75 37 29 13 6 40 73
Sterol Carrier Protein 2 Deficiency 57 53 75
Leukoencephalopathy-Dystonia-Motor Neuropathy Syndrome 53 59
Lkdmn 57 75
Leukoencephalopathy - Dystonia - Motor Neuropathy 53
Sterol Carrier Protein-2 13

Characteristics:

Orphanet epidemiological data:

59
leukoencephalopathy-dystonia-motor neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
stressful situations can exacerbate symptoms
one patient has been described (last curated may 2006)


HPO:

32
leukoencephalopathy with dystonia and motor neuropathy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leukoencephalopathy with Dystonia and Motor Neuropathy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 163684Disease definitionLeukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.Visit the Orphanet disease page for more resources.

MalaCards based summary : Leukoencephalopathy with Dystonia and Motor Neuropathy, also known as sterol carrier protein 2 deficiency, is related to yellow fever, and has symptoms including spasmodic torticollis An important gene associated with Leukoencephalopathy with Dystonia and Motor Neuropathy is SCP2 (Sterol Carrier Protein 2), and among its related pathways/superpathways are Primary bile acid biosynthesis and PPAR signaling pathway. Affiliated tissues include eye, thalamus and pons, and related phenotypes are peripheral neuropathy and intention tremor

UniProtKB/Swiss-Prot : 75 Leukoencephalopathy with dystonia and motor neuropathy: A syndrome characterized by leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis, accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides in urine.

Description from OMIM: 613724

Related Diseases for Leukoencephalopathy with Dystonia and Motor Neuropathy

Diseases related to Leukoencephalopathy with Dystonia and Motor Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 yellow fever 10.3

Symptoms & Phenotypes for Leukoencephalopathy with Dystonia and Motor Neuropathy

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
azoospermia
hypergonadotrophic hypogonadism

Neurologic Central Nervous System:
dystonic head tremor
spasmodic torticollis
bilateral hyperintense signals seen on mri
butterfly lesions of the pons

Head And Neck Eyes:
saccadic eye movements


Clinical features from OMIM:

613724

Human phenotypes related to Leukoencephalopathy with Dystonia and Motor Neuropathy:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 peripheral neuropathy 32 HP:0009830
2 intention tremor 32 HP:0002080
3 hypergonadotropic hypogonadism 32 HP:0000815
4 azoospermia 32 HP:0000027
5 torticollis 32 HP:0000473
6 hyposmia 32 HP:0004409
7 head tremor 32 HP:0002346
8 abnormality of saccadic eye movements 32 HP:0000570
9 abnormality of thalamus morphology 32 HP:0010663
10 leukoencephalopathy 32 HP:0002352
11 abnormal motor neuron morphology 32 HP:0002450

UMLS symptoms related to Leukoencephalopathy with Dystonia and Motor Neuropathy:


spasmodic torticollis

Drugs & Therapeutics for Leukoencephalopathy with Dystonia and Motor Neuropathy

Search Clinical Trials , NIH Clinical Center for Leukoencephalopathy with Dystonia and Motor Neuropathy

Genetic Tests for Leukoencephalopathy with Dystonia and Motor Neuropathy

Genetic tests related to Leukoencephalopathy with Dystonia and Motor Neuropathy:

# Genetic test Affiliating Genes
1 Leukoencephalopathy with Dystonia and Motor Neuropathy 29 SCP2

Anatomical Context for Leukoencephalopathy with Dystonia and Motor Neuropathy

MalaCards organs/tissues related to Leukoencephalopathy with Dystonia and Motor Neuropathy:

41
Eye, Thalamus, Pons, Liver

Publications for Leukoencephalopathy with Dystonia and Motor Neuropathy

Articles related to Leukoencephalopathy with Dystonia and Motor Neuropathy:

(show top 50) (show all 55)
# Title Authors Year
1
Sterol carrier protein-2: binding protein for endocannabinoids. ( 24510313 )
2014
2
THAP and ATF-2 regulated sterol carrier protein-2 promoter activities in the larval midgut of the yellow fever mosquito, Aedes aegypti. ( 23056538 )
2012
3
In vivo functional genomic studies of sterol carrier protein-2 gene in the yellow fever mosquito. ( 21437205 )
2011
4
Caveolin, sterol carrier protein-2, membrane cholesterol-rich microdomains and intracellular cholesterol trafficking. ( 20213548 )
2010
5
Yellow fever mosquito sterol carrier protein-2 gene structure and transcriptional regulation. ( 20002221 )
2010
6
Sterol carrier protein-2 (SCP-2) involvement in cholesterol hydroperoxide cytotoxicity as revealed by SCP-2 inhibitor effects. ( 20656919 )
2010
7
Larvicidal activity of mosquito sterol carrier protein-2 inhibitors to the insecticide-resistant mosquito Culex quinquefasciatus (Diptera: Culicidae). ( 19960692 )
2009
8
Characterization of the yellow fever mosquito sterol carrier protein-2 like 3 gene and ligand-bound protein structure. ( 19130179 )
2009
9
Role of an ancestral d-bifunctional protein containing two sterol-carrier protein-2 domains in lipid uptake and trafficking in Toxoplasma. ( 19005217 )
2009
10
Structure of dehydroergosterol monohydrate and interaction with sterol carrier protein-2. ( 19020914 )
2008
11
Structure and function of the sterol carrier protein-2 N-terminal presequence. ( 18465878 )
2008
12
Effect of sterol carrier protein-2 expression on sphingolipid distribution in plasma membrane lipid rafts/caveolae. ( 17680294 )
2007
13
Identification of two sterol carrier protein-2 like genes in the yellow fever mosquito, Aedes aegypti. ( 17433070 )
2007
14
Fusion and fission, the evolution of sterol carrier protein-2. ( 16501878 )
2006
15
Overexpression of sterol carrier protein-2 mRNA in patients with cholesterol gallstones. ( 15730934 )
2005
16
Sterol carrier protein-2 directly interacts with caveolin-1 in vitro and in vivo. ( 15182174 )
2004
17
Plants express a lipid transfer protein with high similarity to mammalian sterol carrier protein-2. ( 15456765 )
2004
18
Sterol carrier protein-2 functions in phosphatidylinositol transfer and signaling. ( 12641450 )
2003
19
The structural determination of an insect sterol carrier protein-2 with a ligand-bound C16 fatty acid at 1.35-A resolution. ( 12855689 )
2003
20
Isolation and expression of a sterol carrier protein-2 gene from the yellow fever mosquito, Aedes aegypti. ( 12542635 )
2003
21
Sterol carrier protein-2 selectively alters lipid composition and cholesterol dynamics of caveolae/lipid raft vs nonraft domains in L-cell fibroblast plasma membranes. ( 14661971 )
2003
22
Sterol carrier protein-2: structure reveals function. ( 11915938 )
2002
23
Role of the sterol carrier protein-2 N-terminal membrane binding domain in sterol transfer. ( 12356316 )
2002
24
Sterol carrier protein-2: not just for cholesterol any more. ( 12479573 )
2002
25
Sterol carrier protein-2 expression modulates protein and lipid composition of lipid droplets. ( 11333258 )
2001
26
Gene structure, intracellular localization, and functional roles of sterol carrier protein-2. ( 11591437 )
2001
27
Sterol carrier protein-2 expression alters plasma membrane lipid distribution and cholesterol dynamics. ( 11371213 )
2001
28
Characterization of a steroidogenic factor-1-binding site found in promoter of sterol carrier protein-2 gene. ( 11394644 )
2001
29
NMR structure of the sterol carrier protein-2: implications for the biological role. ( 10623549 )
2000
30
A potential role for sterol carrier protein-2 in cholesterol transfer to mitochondria. ( 10727111 )
2000
31
Sterol carrier protein-2 suppresses microsomal acyl-CoA hydrolysis. ( 10821425 )
2000
32
Sterol carrier protein-2 localization in endoplasmic reticulum and role in phospholipid formation. ( 11003606 )
2000
33
[Sterol carrier protein-2 (SCP2): the review of its physiological role]. ( 10737101 )
2000
34
Sterol carrier protein-2. ( 10856712 )
2000
35
Sterol carrier protein-2 alters high density lipoprotein-mediated cholesterol efflux. ( 10954705 )
2000
36
Pro-sterol carrier protein-2: role of the N-terminal presequence in structure, function, and peroxisomal targeting. ( 10833510 )
2000
37
The sterol carrier protein-2 amino terminus: a membrane interaction domain. ( 10529196 )
1999
38
Holo-sterol carrier protein-2. (13)C NMR investigation of cholesterol and fatty acid binding sites. ( 10585412 )
1999
39
Vimentin-dependent utilization of LDL-cholesterol in human adrenal tumor cells is not associated with the level of expression of apoE, sterol carrier protein-2, or caveolin. ( 10428980 )
1999
40
Sterol carrier protein-2 expression increases NBD-stearate uptake and cytoplasmic diffusion in L cells. ( 9688650 )
1998
41
The sterol carrier protein-2 fatty acid binding site: an NMR, circular dichroic, and fluorescence spectroscopic determination. ( 9048555 )
1997
42
Lipid specificity and location of the sterol carrier protein-2 fatty acid-binding site: a fluorescence displacement and energy transfer study. ( 9397406 )
1997
43
Fibroblast membrane sterol kinetic domains: modulation by sterol carrier protein-2 and liver fatty acid binding protein. ( 8895052 )
1996
44
Sterol carrier protein-2, a new fatty acyl coenzyme A-binding protein. ( 8943231 )
1996
45
Sterol carrier protein-2 stimulates intermembrane sterol transfer by direct membrane interaction. ( 7788802 )
1995
46
Cholesterol interaction with recombinant human sterol carrier protein-2. ( 8577222 )
1995
47
Cholesterol enrichment enhances expression of sterol-carrier protein-2: implications for its function in intracellular cholesterol trafficking. ( 8847489 )
1995
48
Sterol carrier protein-2 is involved in cholesterol transfer from the endoplasmic reticulum to the plasma membrane in human fibroblasts. ( 7642518 )
1995
49
Regulation of membrane cholesterol domains by sterol carrier protein-2. ( 8011635 )
1994
50
Mechanistic studies of sterol carrier protein-2 effects on L-cell fibroblast plasma membrane sterol domains. ( 8305459 )
1994

Variations for Leukoencephalopathy with Dystonia and Motor Neuropathy

ClinVar genetic disease variations for Leukoencephalopathy with Dystonia and Motor Neuropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCP2 SCP2, 1-BP INS, 545A insertion Pathogenic
2 SCP2 NM_002979.4(SCP2): c.825+1G> T single nucleotide variant Likely pathogenic rs144132787 GRCh37 Chromosome 1, 53444040: 53444040
3 SCP2 NM_002979.4(SCP2): c.825+1G> T single nucleotide variant Likely pathogenic rs144132787 GRCh38 Chromosome 1, 52978368: 52978368

Expression for Leukoencephalopathy with Dystonia and Motor Neuropathy

Search GEO for disease gene expression data for Leukoencephalopathy with Dystonia and Motor Neuropathy.

Pathways for Leukoencephalopathy with Dystonia and Motor Neuropathy

Pathways related to Leukoencephalopathy with Dystonia and Motor Neuropathy according to KEGG:

37
# Name Kegg Source Accession
1 Primary bile acid biosynthesis hsa00120
2 PPAR signaling pathway hsa03320
3 Peroxisome hsa04146

GO Terms for Leukoencephalopathy with Dystonia and Motor Neuropathy

Sources for Leukoencephalopathy with Dystonia and Motor Neuropathy

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....