PLS
MCID: LTR001
MIFTS: 54

Lateral Sclerosis (PLS) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Lateral Sclerosis

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NIH Rare Diseases:42 Primary lateral sclerosis is a type of motor neuron disease, where nerve cells that control voluntary muscle movement breakdown and die. in primary lateral sclerosis only the upper motor neurons in the brain are affected. symptoms often begin with problems in the legs (e.g., weakness, stiffness, spasticity, and balance problems), but may also start with hand clumsiness and changes in speech. the symptoms worsen gradually over time, however people with this condition have a normal life expectancy. progression of symptoms varies from person to person, some people retain the ability to walk without assistance, others eventually require assistive devices such as canes or wheelchairs. diagnosis requires extensive testing to exclude other diseases. treatment may include baclofen and tizanidine to reduce spasticity, quinine or phenytoin to reduce cramps, as well as physical and speech therapy as required. last updated: 1/22/2010

MalaCards based summary: Lateral Sclerosis, also known as primary lateral sclerosis, is related to motor neuron disease and frontotemporal dementia, and has symptoms including An important gene associated with Lateral Sclerosis is FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)), and among its related pathways is Amyotrophic lateral sclerosis (ALS). Affiliated tissues include spinal cord, brain and testes, and related mouse phenotype behavior/neurological.

NINDS:43 Primary lateral sclerosis (PLS) is a rare neuromuscular disease with slowly progressive weakness in voluntary muscle movement. PLS belongs to a group of disorders known as motor neuron diseases. PLS affects the upper motor neurons (also called corticospinal neurons) in the arms, legs, and face.

Wikipedia:65 Amyotrophic lateral sclerosis (ALS)? Lou Gehrig\'s disease, and rarely Charcot disease?is a... more...

Description from OMIM:46 611637

Aliases & Classifications for Lateral Sclerosis

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Sources:
8Disease Ontology, 10DISEASES, 62UMLS, 42NIH Rare Diseases, 43NINDS, 44Novoseek, 48Orphanet, 46OMIM, 27ICD9CM, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet
See all sources

Lateral Sclerosis, Aliases & Descriptions:

Name: Lateral Sclerosis 8 10 62
Primary Lateral Sclerosis 8 42 43 44 48 46 62
Pls 48 62
 
Adult-Onset Primary Lateral Sclerosis 48
Primary Lateral Sclerosis, Adult, 1 62
Adult-Onset Pls 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
primary lateral sclerosis:
Inheritance: Autosomal recessive,Sporadic; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


External Ids:

Disease Ontology8 DOID:230
ICD9CM27 335.24
MeSH34 D016472
SNOMED-CT57 81211007
OMIM46 611637
ICD10 via Orphanet26 G12.2

Related Diseases for Lateral Sclerosis

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Diseases in the Juvenile Primary Lateral Sclerosis family:

lateral sclerosis Primary Lateral Sclerosis, Adult, 1

Diseases related to Lateral Sclerosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 236)
idRelated DiseaseScoreTop Affiliating Genes
1motor neuron disease31.5SOD1, NEFH, ALS2
2frontotemporal dementia31.5FUS, C9orf72, SOD1
3amyotrophic lateral sclerosis type 1431.1ALS2, FUS, C9orf72, SETX, SOD1, NEFH
4aphasia30.7FUS, C9orf72
5neuropathy30.5NEFH, SETX, FIG4
6amyotrophic lateral sclerosis11.6
7neuronitis11.1
8dementia11.0
9juvenile primary lateral sclerosis10.7
10amyotrophic lateral sclerosis type 210.6
11amyotrophic lateral sclerosis type 410.6
12muscular atrophy10.6
13endotheliitis10.6
14amyotrophic lateral sclerosis-parkinsonism/dementia complex10.5
15amyotrophic lateral sclerosis type 810.5
16spasticity10.5
17amyotrophic lateral sclerosis type 1110.5
18amyotrophic lateral sclerosis type 910.5
19alzheimer's disease10.5
20parkinson's disease10.5
21progressive muscular atrophy10.5
22amyotrophic lateral sclerosis type 310.5
23amyotrophic lateral sclerosis type 610.5
24amyotrophic lateral sclerosis type 710.5
25amyotrophic lateral sclerosis type 1010.5
26ftdals110.5
27amyotrophic lateral sclerosis type 510.5
28amyotrophic lateral sclerosis type 1710.5
29amyotrophic lateral sclerosis type 1810.5
30multiple sclerosis10.4
31spinal muscular atrophy10.4
32amyotrophic lateral sclerosis-parkinsonism/dementia complex 110.4
33myocardial infarction10.4
34progressive supranuclear palsy10.4
35werdnig-hoffmann disease10.4
36amyotrophic lateral sclerosis type 110.4
37amyotrophic lateral sclerosis type 1210.4
38hereditary spastic paraplegia10.4
39pick's disease10.4
40cerebritis10.4
41cervicitis10.4
42paraplegia10.4
43amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.4
44multifocal motor neuropathy10.3
45amyotrophic lateral sclerosis type 1910.3
46poliomyelitis10.3
47tauopathy10.3
48dysphagia10.3
49blindness10.3
50split hand10.3

Graphical network of the top 20 diseases related to Lateral Sclerosis:



Diseases related to lateral sclerosis

Symptoms for Lateral Sclerosis

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Symptoms by clinical synopsis from OMIM:

611637

Clinical features from OMIM:

611637

HPO human phenotypes related to Lateral Sclerosis:

(show all 10)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 spastic tetraparesis HP:0001285
3 hyperreflexia HP:0001347
4 dysphagia HP:0002015
5 spastic gait HP:0002064
6 upper motor neuron abnormality HP:0002127
7 spastic dysarthria HP:0002464
8 babinski sign HP:0003487
9 adult onset HP:0003581
10 slow progression HP:0003677

Drugs & Therapeutics for Lateral Sclerosis

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Drug clinical trials:

Search ClinicalTrials for Lateral Sclerosis

Search NIH Clinical Center for Lateral Sclerosis

Genetic Tests for Lateral Sclerosis

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Anatomical Context for Lateral Sclerosis

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MalaCards organs/tissues related to Lateral Sclerosis:

32
Spinal cord, Brain, Testes, Cortex, Skin, Endothelial, Skeletal muscle, Monocytes, Tongue, Eye, Bone, Salivary gland, Pituitary, Bone marrow, Whole blood, Cerebellum, Liver, Breast, Prostate, Temporal lobe, Amygdala

Animal Models for Lateral Sclerosis or affiliated genes

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MGI Mouse Phenotypes related to Lateral Sclerosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5TRPM7, SIGMAR1, ALS2, CARF, FIG4, FAM117B

Publications for Lateral Sclerosis

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Articles related to Lateral Sclerosis:

(show top 50)    (show all 1902)
idTitleAuthorsYear
1
Genetically altering organismal metabolism by leptin-deficiency benefits a mouse model of amyotrophic lateral sclerosis. (24833719)
2014
2
Depressed excitability and ion currents linked to slow exocytotic fusion pore in chromaffin cells of the SOD1G93A mouse model of amyotrophic lateral sclerosis. (25377090)
2014
3
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. (24562058)
2014
4
Limb-onset amyotrophic lateral sclerosis patients visiting orthopedist show a longer time-to-diagnosis since symptom onset. (23394455)
2013
5
Carnitine deficiency presenting with a decreased mental state in a patient with amyotrophic lateral sclerosis receiving long-term tube feeding: a case report. (24377720)
2013
6
Genetics of amyotrophic lateral sclerosis: an update. (23941283)
2013
7
PGC-1I+ is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis. (23669350)
2013
8
Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect? (24339616)
2013
9
Characterization of Wnt/I^-catenin and BMP/Smad signaling pathways in an in vitro model of amyotrophic lateral sclerosis. (24348333)
2013
10
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. (22922411)
2012
11
TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis. (20708823)
2012
12
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. (22406228)
2012
13
Two potential biomarkers identified in mesenchymal stem cells and leukocytes of patients with sporadic amyotrophic lateral sclerosis. (22430187)
2012
14
The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients. (22993125)
2012
15
Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. (22057404)
2012
16
CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. (22507827)
2012
17
Motor nerve conduction study in cauda equina with high-voltage electrical stimulation in multifocal motor neuropathy and amyotrophic lateral sclerosis. (21254095)
2011
18
Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients. (21226712)
2011
19
Elevated CSF TDP-43 levels in amyotrophic lateral sclerosis: specificity, sensitivity, and a possible prognostic value. (21126161)
2011
20
Vascular endothelial growth factor attenuates neurodegenerative changes in the NSC-34 motor neuron cell line induced by cerebrospinal fluid of sporadic amyotrophic lateral sclerosis patients. (21389676)
2011
21
Appearance of phagocytic microglia adjacent to motoneurons in spinal cord tissue from a presymptomatic transgenic rat model of amyotrophic lateral sclerosis. (20648658)
2010
22
Superficial siderosis mimicking amyotrophic lateral sclerosis. (20215988)
2010
23
Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. (20385924)
2010
24
A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. (19058054)
2009
25
CSF hypocretin-1 levels are normal in patients with amyotrophic lateral sclerosis. (19922146)
2009
26
Abnormal diffusion tensor in nonsymptomatic familial amyotrophic lateral sclerosis with a causative superoxide dismutase 1 mutation. (18022844)
2008
27
Ascending neuropathology in the CNS of a mutant SOD1 mouse model of amyotrophic lateral sclerosis. (16737688)
2006
28
Histological recovery of the hepatocytes is based on the redox system upregulation in the animal models of mutant superoxide dismutase (SOD)1-linked amyotrophic lateral sclerosis. (16598672)
2006
29
Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? (16036421)
2005
30
Expression of an endoplasmic reticulum-resident chaperone, glucose-regulated stress protein 78, in the spinal cord of a mouse model of amyotrophic lateral sclerosis. (16231159)
2005
31
Inhibition of chaperone activity is a shared property of several Cu,Zn-superoxide dismutase mutants that cause amyotrophic lateral sclerosis. (15753080)
2005
32
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (15106121)
2004
33
Decreased galectin-1 immunoreactivity of the skin in amyotrophic lateral sclerosis. (12639727)
2003
34
Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis. (12768434)
2003
35
The structure of holo and metal-deficient wild-type human Cu, Zn superoxide dismutase and its relevance to familial amyotrophic lateral sclerosis. (12729761)
2003
36
No correlation between aggregates of Cu/Zn superoxide dismutase and cell death in familial amyotrophic lateral sclerosis. (12358770)
2002
37
Amyotrophic lateral sclerosis and SOD1 gene: an overview. (11996514)
2001
38
Genetics of amyotrophic lateral sclerosis. (19714405)
2000
39
Manganese superoxide dismutase levels are elevated in a proportion of amyotrophic lateral sclerosis patient cell lines. (10873611)
2000
40
Unaltered cytochrome oxidase, glutamate dehydrogenase and glutaminase activities in platelets from patients with sporadic amyotrophic lateral sclerosis--a study of potential pathogenetic mechanisms in neurodegenerative diseases. (11458996)
2000
41
Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry. (9696308)
1998
42
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. (9131652)
1997
43
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan. (10732812)
1997
44
Muscarinic, N-methyl-D-aspartate (NMDA) and benzodiazepine receptor binding sites in cortical membranes from amyotrophic lateral sclerosis patients. (8981309)
1996
45
Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis. (8899655)
1996
46
Amyotrophic lateral sclerosis associated with multiple myeloma, endocrinopathy and skin changes suggestive of a POEMS syndrome variant. (7595623)
1995
47
Neurofibrillary degeneration in amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam. Immunochemical characterization of tau proteins. (7717459)
1995
48
Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis. (8105280)
1993
49
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. (8351519)
1993
50
Spinal cord neurofibrillary tangles of Guamanian amyotrophic lateral sclerosis and parkinsonism-dementia complex: an immunohistochemical study. (2161095)
1990

Variations for Lateral Sclerosis

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Expression for genes affiliated with Lateral Sclerosis

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Expression patterns in normal tissues for genes affiliated with Lateral Sclerosis

Search GEO for disease gene expression data for Lateral Sclerosis.

Pathways for genes affiliated with Lateral Sclerosis

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Pathways related to Lateral Sclerosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Amyotrophic lateral sclerosis (ALS)37
9.9ALS2, NEFH, SOD1

Compounds for genes affiliated with Lateral Sclerosis

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GO Terms for genes affiliated with Lateral Sclerosis

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Biological processes related to Lateral Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of Rac GTPase activityGO:03231410.1ALS2, SOD1
2locomotory behaviorGO:0076269.7ALS2, FIG4, SOD1
3cell deathGO:0082199.1SIGMAR1, FUS, C9orf72, SETX, NEFH, FIG4

Products for genes affiliated with Lateral Sclerosis

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Sources for Lateral Sclerosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet