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Primary lateral sclerosis

MedGen UID:
57591
•Concept ID:
C0154682
•
Disease or Syndrome
Synonym: Lateral sclerosis
SNOMED CT: Primary lateral sclerosis (81211007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018155
Orphanet: ORPHA35689

Definition

Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary lateral sclerosis

Professional guidelines

PubMed

Gold Coast diagnostic criteria: Implications for ALS diagnosis and clinical trial enrollment.
Vucic S, Ferguson TA, Cummings C, Hotchkin MT, Genge A, Glanzman R, Roet KCD, Cudkowicz M, Kiernan MC
Muscle Nerve 2021 Nov;64(5):532-537. Epub 2021 Aug 24 doi: 10.1002/mus.27392. PMID: 34378224
Primary lateral sclerosis: diagnosis and management.
Turner MR, Talbot K
Pract Neurol 2020 Aug;20(4):262-269. Epub 2020 Mar 26 doi: 10.1136/practneurol-2019-002300. PMID: 32217663
Primary lateral sclerosis: consensus diagnostic criteria.
Turner MR, Barohn RJ, Corcia P, Fink JK, Harms MB, Kiernan MC, Ravits J, Silani V, Simmons Z, Statland J, van den Berg LH; Delegates of the 2nd International PLS Conference, Mitsumoto H
J Neurol Neurosurg Psychiatry 2020 Apr;91(4):373-377. Epub 2020 Feb 6 doi: 10.1136/jnnp-2019-322541. PMID: 32029539Free PMC Article

Recent clinical studies

Etiology

Primary lateral sclerosis.
Marzoughi S, Pfeffer G, Cashman N
Handb Clin Neurol 2023;196:89-99. doi: 10.1016/B978-0-323-98817-9.00021-1. PMID: 37620095
The hereditary spastic paraplegias.
Fink JK
Handb Clin Neurol 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. PMID: 37620092
Assessment of Safety of a Fully Implanted Endovascular Brain-Computer Interface for Severe Paralysis in 4 Patients: The Stentrode With Thought-Controlled Digital Switch (SWITCH) Study.
Mitchell P, Lee SCM, Yoo PE, Morokoff A, Sharma RP, Williams DL, MacIsaac C, Howard ME, Irving L, Vrljic I, Williams C, Bush S, Balabanski AH, Drummond KJ, Desmond P, Weber D, Denison T, Mathers S, O'Brien TJ, Mocco J, Grayden DB, Liebeskind DS, Opie NL, Oxley TJ, Campbell BCV
JAMA Neurol 2023 Mar 1;80(3):270-278. doi: 10.1001/jamaneurol.2022.4847. PMID: 36622685Free PMC Article
Autophagy and Motor Neuron Diseases.
Zhang X, Yang K, Le W
Adv Exp Med Biol 2020;1207:53-74. doi: 10.1007/978-981-15-4272-5_3. PMID: 32671738
Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology.
Pinto WBVR, Debona R, Nunes PP, Assis ACD, Lopes CG, Bortholin T, Dias RB, Naylor FGM, Chieia MAT, Souza PVS, Oliveira ASB
Rev Neurol (Paris) 2019 Apr;175(4):221-232. Epub 2019 Mar 4 doi: 10.1016/j.neurol.2018.04.016. PMID: 30846210

Diagnosis

Primary lateral sclerosis.
Marzoughi S, Pfeffer G, Cashman N
Handb Clin Neurol 2023;196:89-99. doi: 10.1016/B978-0-323-98817-9.00021-1. PMID: 37620095
Gold Coast diagnostic criteria: Implications for ALS diagnosis and clinical trial enrollment.
Vucic S, Ferguson TA, Cummings C, Hotchkin MT, Genge A, Glanzman R, Roet KCD, Cudkowicz M, Kiernan MC
Muscle Nerve 2021 Nov;64(5):532-537. Epub 2021 Aug 24 doi: 10.1002/mus.27392. PMID: 34378224
Primary lateral sclerosis: diagnosis and management.
Turner MR, Talbot K
Pract Neurol 2020 Aug;20(4):262-269. Epub 2020 Mar 26 doi: 10.1136/practneurol-2019-002300. PMID: 32217663
Primary lateral sclerosis: consensus diagnostic criteria.
Turner MR, Barohn RJ, Corcia P, Fink JK, Harms MB, Kiernan MC, Ravits J, Silani V, Simmons Z, Statland J, van den Berg LH; Delegates of the 2nd International PLS Conference, Mitsumoto H
J Neurol Neurosurg Psychiatry 2020 Apr;91(4):373-377. Epub 2020 Feb 6 doi: 10.1136/jnnp-2019-322541. PMID: 32029539Free PMC Article
Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology.
Pinto WBVR, Debona R, Nunes PP, Assis ACD, Lopes CG, Bortholin T, Dias RB, Naylor FGM, Chieia MAT, Souza PVS, Oliveira ASB
Rev Neurol (Paris) 2019 Apr;175(4):221-232. Epub 2019 Mar 4 doi: 10.1016/j.neurol.2018.04.016. PMID: 30846210

Therapy

Primary lateral sclerosis.
Marzoughi S, Pfeffer G, Cashman N
Handb Clin Neurol 2023;196:89-99. doi: 10.1016/B978-0-323-98817-9.00021-1. PMID: 37620095
Assessment of Safety of a Fully Implanted Endovascular Brain-Computer Interface for Severe Paralysis in 4 Patients: The Stentrode With Thought-Controlled Digital Switch (SWITCH) Study.
Mitchell P, Lee SCM, Yoo PE, Morokoff A, Sharma RP, Williams DL, MacIsaac C, Howard ME, Irving L, Vrljic I, Williams C, Bush S, Balabanski AH, Drummond KJ, Desmond P, Weber D, Denison T, Mathers S, O'Brien TJ, Mocco J, Grayden DB, Liebeskind DS, Opie NL, Oxley TJ, Campbell BCV
JAMA Neurol 2023 Mar 1;80(3):270-278. doi: 10.1001/jamaneurol.2022.4847. PMID: 36622685Free PMC Article
Gold Coast diagnostic criteria: Implications for ALS diagnosis and clinical trial enrollment.
Vucic S, Ferguson TA, Cummings C, Hotchkin MT, Genge A, Glanzman R, Roet KCD, Cudkowicz M, Kiernan MC
Muscle Nerve 2021 Nov;64(5):532-537. Epub 2021 Aug 24 doi: 10.1002/mus.27392. PMID: 34378224
Measuring disease progression in primary lateral sclerosis.
Gilmore M, Elman L, Babu S, Andres P, Floeter MK
Amyotroph Lateral Scler Frontotemporal Degener 2020 Nov;21(sup1):59-66. doi: 10.1080/21678421.2020.1837179. PMID: 33602016Free PMC Article
Primary lateral sclerosis: consensus diagnostic criteria.
Turner MR, Barohn RJ, Corcia P, Fink JK, Harms MB, Kiernan MC, Ravits J, Silani V, Simmons Z, Statland J, van den Berg LH; Delegates of the 2nd International PLS Conference, Mitsumoto H
J Neurol Neurosurg Psychiatry 2020 Apr;91(4):373-377. Epub 2020 Feb 6 doi: 10.1136/jnnp-2019-322541. PMID: 32029539Free PMC Article

Prognosis

Primary lateral sclerosis.
Marzoughi S, Pfeffer G, Cashman N
Handb Clin Neurol 2023;196:89-99. doi: 10.1016/B978-0-323-98817-9.00021-1. PMID: 37620095
Neurophysiological features of primary lateral sclerosis.
de Carvalho M, Kiernan MC, Pullman SL, Rezania K, Turner MR, Simmons Z
Amyotroph Lateral Scler Frontotemporal Degener 2020 Nov;21(sup1):11-17. doi: 10.1080/21678421.2020.1837174. PMID: 33602011
Primary lateral sclerosis: a distinct entity or part of the ALS spectrum?
Finegan E, Chipika RH, Shing SLH, Hardiman O, Bede P
Amyotroph Lateral Scler Frontotemporal Degener 2019 May;20(3-4):133-145. Epub 2019 Jan 18 doi: 10.1080/21678421.2018.1550518. PMID: 30654671
Primary lateral sclerosis and the amyotrophic lateral sclerosis-frontotemporal dementia spectrum.
Agarwal S, Highton-Williamson E, Caga J, Matamala JM, Dharmadasa T, Howells J, Zoing MC, Shibuya K, Geevasinga N, Vucic S, Hodges JR, Ahmed RM, Kiernan MC
J Neurol 2018 Aug;265(8):1819-1828. Epub 2018 Jun 4 doi: 10.1007/s00415-018-8917-5. PMID: 29868980
Demographics and clinical characteristics of primary lateral sclerosis: case series and a review of literature.
Ramanathan RS, Rana S
Neurodegener Dis Manag 2018 Feb;8(1):17-23. Epub 2018 Jan 10 doi: 10.2217/nmt-2017-0051. PMID: 29316850

Clinical prediction guides

Measuring disease progression in primary lateral sclerosis.
Gilmore M, Elman L, Babu S, Andres P, Floeter MK
Amyotroph Lateral Scler Frontotemporal Degener 2020 Nov;21(sup1):59-66. doi: 10.1080/21678421.2020.1837179. PMID: 33602016Free PMC Article
Neurophysiological features of primary lateral sclerosis.
de Carvalho M, Kiernan MC, Pullman SL, Rezania K, Turner MR, Simmons Z
Amyotroph Lateral Scler Frontotemporal Degener 2020 Nov;21(sup1):11-17. doi: 10.1080/21678421.2020.1837174. PMID: 33602011
The NEALS primary lateral sclerosis registry.
Paganoni S, De Marchi F, Chan J, Thrower SK, Staff NP, Datta N, Kisanuki YY, Drory V, Fournier C, Pioro EP, Goutman SA, Atassi N; NEALS PLS Registry Study Group, Jeon M, Caldwell S, Mcdonough T, Gentile C, Liu J, Turner M, Denny C, Felice K, Green M, Scarberry S, Abu-Saleh S, Nefussy B, Hastings D, Kim S, Swihart B, Arcila-Londono X, Newman DS, Silverman M, Genge A, Salmon K, Elman L, Mccluskey L, Almasy K, Gotkine M, Goslin K, Cummings A, Edwards EK, Rivner M, Bouchard K, Quarles B, Kwan J, Jaffa M, Baloh R, Allred P, Walk D, Maiser S, Manousakis G, Ferment V, Fernandes JAM Jr, Thaisetthawatkul P, Heimes D, Phillips M, Sams L, Kahler M, Corcoran A, Larriviere DG, Chotto S, Juba G
Amyotroph Lateral Scler Frontotemporal Degener 2020 Nov;21(sup1):74-81. Epub 2020 Sep 11 doi: 10.1080/21678421.2020.1804591. PMID: 32915077
The clinical and radiological profile of primary lateral sclerosis: a population-based study.
Finegan E, Chipika RH, Li Hi Shing S, Doherty MA, Hengeveld JC, Vajda A, Donaghy C, McLaughlin RL, Pender N, Hardiman O, Bede P
J Neurol 2019 Nov;266(11):2718-2733. Epub 2019 Jul 19 doi: 10.1007/s00415-019-09473-z. PMID: 31325016
Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology.
Pinto WBVR, Debona R, Nunes PP, Assis ACD, Lopes CG, Bortholin T, Dias RB, Naylor FGM, Chieia MAT, Souza PVS, Oliveira ASB
Rev Neurol (Paris) 2019 Apr;175(4):221-232. Epub 2019 Mar 4 doi: 10.1016/j.neurol.2018.04.016. PMID: 30846210

Recent systematic reviews

Progressive supranuclear palsy (PSP): Richardson syndrome and other PSP variants.
Lopez G, Bayulkem K, Hallett M
Acta Neurol Scand 2016 Oct;134(4):242-9. Epub 2016 Jan 6 doi: 10.1111/ane.12546. PMID: 27070344Free PMC Article

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