PLS
MCID: LTR001
MIFTS: 55

Lateral Sclerosis (PLS) malady

Neuronal diseases category

Summaries for Lateral Sclerosis

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Sources:
42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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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: Lateral Sclerosis, also known as primary lateral sclerosis, is related to amyotrophic lateral sclerosis and motor neuron disease. An important gene associated with Lateral Sclerosis is FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)), and among its related pathways is Pathogenesis of ALS. Affiliated tissues include spinal cord, brain and testes.

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:63 Amyotrophic lateral sclerosis (ALS)—also referred to as motor neurone disease (MND) in most... more...

Description from OMIM:46 611637

Aliases & Classifications for Lateral Sclerosis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 27ICD9CM, 56SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
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


Aliases & Descriptions:

lateral sclerosis 8 10 60
primary lateral sclerosis 8 42 43 44 48 46
adult-onset primary lateral sclerosis 48
primary lateral sclerosis, adult, 1 60
papillon-lefevre disease 60
adult-onset pls 48
pls 48


External Ids:

Disease Ontology8 DOID:230
ICD9CM27 335.24
MeSH34 D016472
SNOMED-CT56 81211007
OMIM46 611637
ICD10 via Orphanet26 G12.2
SNOMED-CT via Orphanet57 81211007

Related Diseases for Lateral Sclerosis

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Sources:
17GeneCards, 18GeneDecks
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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 209)
idRelated DiseaseScoreTop Affiliating Genes
1amyotrophic lateral sclerosis32.3NEFH, PRPH
2motor neuron disease31.3SOD1, NEFH, ALS2
3frontotemporal dementia31.2FUS, C9orf72, SOD1
4neuropathy30.6NEFH, FIG4, SETX
5neuronitis11.1
6dementia10.9
7juvenile primary lateral sclerosis10.7
8muscular atrophy10.6
9amyotrophic lateral sclerosis type 210.5
10multiple sclerosis10.5
11amyotrophic lateral sclerosis, type 410.5
12amyotrophic lateral sclerosis type 810.5
13alzheimer's disease10.4
14spinal muscular atrophy10.4
15parkinson's disease10.4
16progressive muscular atrophy10.4
17amyotrophic lateral sclerosis type 1110.4
18amyotrophic lateral sclerosis type 910.4
19amyotrophic lateral sclerosis type 310.4
20amyotrophic lateral sclerosis type 710.4
21werdnig-hoffmann disease10.4
22progressive supranuclear palsy10.4
23amyotrophic lateral sclerosis type 1010.4
24amyotrophic lateral sclerosis with frontotemporal dementia10.4
25cerebritis10.3
26hereditary spastic paraplegia10.3
27pick's disease10.3
28cervicitis10.3
29neuromuscular disease10.3
30paraplegia10.3
31neurologic diseases10.3
32amyotrophic lateral sclerosis type 510.3
33amyotrophic lateral sclerosis-parkinsonism/dementia complex 110.3
34myocardial infarction10.3
35poliomyelitis10.3
36tauopathy10.3
37amyotrophic lateral sclerosis type 610.3
38amyotrophic lateral sclerosis-parkinsonism/dementia complex10.3
39clear cell acanthoma10.3
40huntington's disease10.2
41muscular dystrophy10.2
42polyneuropathy10.2
43spinal cord disease10.2
44tardbp-related amyotrophic lateral sclerosis10.2
45anosognosia10.2
46anterior horn cell disease10.2
47aphasia10.2
48cerebral degeneration10.2
49leukemia10.2
50respiratory failure10.2

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



Diseases related to lateral sclerosis

Clinical Features for Lateral Sclerosis

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Sources:
46OMIM
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Clinical features from OMIM:

611637

Clinical synopsis from OMIM:

611637

Drugs & Therapeutics for Lateral Sclerosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Lateral Sclerosis

Drug clinical trials:

Search ClinicalTrials for Lateral Sclerosis

Search NIH Clinical Center for Lateral Sclerosis

Search CenterWatch for Lateral Sclerosis

Genetic Tests for Lateral Sclerosis

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Anatomical Context for Lateral Sclerosis

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32MalaCards
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MalaCards organs/tissues related to Lateral Sclerosis:

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

Animal Models for Lateral Sclerosis or affiliated genes

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Publications for Lateral Sclerosis

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Sources:
50PubMed
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Articles related to Lateral Sclerosis:

(show top 50)    (show all 1877)
idTitleAuthorsYear
1
Lyme Disease -Induced Polyradiculopathy Mimicking Amyotrophic Lateral Sclerosis. (24397499)
2014
2
Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis. (23678876)
2013
3
Growth hormone secretion is correlated with neuromuscular innervation rather than motor neuron number in early-symptomatic male amyotrophic lateral sclerosis mice. (24108071)
2013
4
Amyotrophic lateral sclerosis mimic syndrome due to neurosyphilis. (23020664)
2013
5
Linking I^-methylamino-L-alanine exposure to sporadic amyotrophic lateral sclerosis in Annapolis, MD. (23660330)
2013
6
Clinical perspective on oxidative stress in sporadic amyotrophic lateral sclerosis. (23797033)
2013
7
Enhanced uncoupling of the mitochondrial respiratory chain as a potential source for amyotrophic lateral sclerosis. (23840192)
2013
8
Changes in cognition and behaviour in amyotrophic lateral sclerosis: nature of impairment and implications for assessment. (23518330)
2013
9
Cortical thinning and clinical heterogeneity in amyotrophic lateral sclerosis. (24278317)
2013
10
Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. (23624525)
2013
11
Neck weakness is a potent prognostic factor in sporadic amyotrophic lateral sclerosis patients. (23933739)
2013
12
Possible association between expression of chemokine receptor-2 (CCR2) and amyotrophic lateral sclerosis (ALS) patients of North India. (22685564)
2012
13
Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene. (22918453)
2012
14
Aberrant localization of FUS and TDP43 is associated with misfolding of SOD1 in amyotrophic lateral sclerosis. (22493728)
2012
15
Stem cell transplantation in amyotrophic lateral sclerosis patients: methodological approach, safety, and feasibility. (23356668)
2012
16
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient. (22878164)
2012
17
Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat. (22366789)
2012
18
Restructured endoplasmic reticulum generated by mutant amyotrophic lateral sclerosis-linked VAPB is cleared by the proteasome. (22611258)
2012
19
Progressive supranuclear palsy presenting as primary lateral sclerosis but lacking parkinsonism, gaze palsy, aphasia, or dementia. (23026537)
2012
20
Elevated cerebrospinal fluid neurofilament light levels in patients with amyotrophic lateral sclerosis: a possible marker of disease severity and progression. (22680408)
2012
21
Elevated CSF TDP-43 levels in amyotrophic lateral sclerosis: specificity, sensitivity, and a possible prognostic value. (21126161)
2011
22
The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis. (20176600)
2010
23
Downregulation of the potassium chloride cotransporter KCC2 in vulnerable motoneurons in the SOD1-G93A mouse model of amyotrophic lateral sclerosis. (20838240)
2010
24
Health-related quality of life in patients with myotonic dystrophy type 1 and amyotrophic lateral sclerosis. (20514929)
2010
25
Acute glial activation by stab injuries does not lead to overt damage or motor neuron degeneration in the G93A mutant SOD1 rat model of amyotrophic lateral sclerosis. (20005223)
2010
26
A large genome scan for rare CNVs in amyotrophic lateral sclerosis. (20685689)
2010
27
A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family. (19122027)
2009
28
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. (19628475)
2009
29
A novel decoy that interrupts G93A-superoxide dismutase gain of interaction with malate dehydrogenase improves survival in an amyotrophic lateral sclerosis cell model. (19670830)
2009
30
Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis. (18826962)
2009
31
Neuronal death in amyotrofic lateral sclerosis]. (18770054)
2008
32
SIRT1 deacetylase protects against neurodegeneration in models for Alzheimer's disease and amyotrophic lateral sclerosis. (17581637)
2007
33
TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. (17333220)
2007
34
SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS). (16952453)
2006
35
Complement C3c and related protein biomarkers in amyotrophic lateral sclerosis and Parkinson's disease. (16516157)
2006
36
Frequency of a tau genotype in amyotrophic lateral sclerosis. (16005901)
2005
37
Up-regulation of mitochondrial uncoupling protein 3 reveals an early muscular metabolic defect in amyotrophic lateral sclerosis. (14500553)
2003
38
No evidence of linkage to chromosome 9q21-22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosis. (12672552)
2003
39
Cell cycle regulators in the neuronal death pathway of amyotrophic lateral sclerosis caused by mutant superoxide dismutase 1. (12657672)
2003
40
No correlation between aggregates of Cu/Zn superoxide dismutase and cell death in familial amyotrophic lateral sclerosis. (12358770)
2002
41
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. (11220750)
2001
42
Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosis. (11357955)
2001
43
Stabilization of mutant Cu/Zn superoxide dismutase (SOD1) protein by coexpressed wild SOD1 protein accelerates the disease progression in familial amyotrophic lateral sclerosis mice. (11860498)
2001
44
Cotreatment of amyotrophic lateral sclerosis patients]. (10791091)
1999
45
Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis. (10737125)
1998
46
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan. (10732812)
1997
47
Expression of glial cell line-derived growth factor mRNA in the spinal cord and muscle in amyotrophic lateral sclerosis. (8929992)
1996
48
Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. (7673954)
1995
49
Deficiency of human ciliary neurotropic factor (CNTF) is not causally related to amyotrophic lateral sclerosis (ALS)]. (8752458)
1995
50
A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. (8179602)
1994

Genetic Variations for Lateral Sclerosis

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Expression for genes affiliated with Lateral Sclerosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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51QIAGEN, 29KEGG
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Pathways related to Lateral Sclerosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.1ALS2, PRPH, 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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16Gene Ontology
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Cellular components related to Lateral Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neurofilamentGO:00588310.8PRPH, NEFH

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

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00821911.4TRPM7, NEFH, ALS2, FUS, SETX, C9orf72
2locomotory behaviorGO:00762610.9SOD1, FIG4, ALS2
3neurofilament cytoskeleton organizationGO:06005210.5NEFH, SOD1

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet