Primary lateral sclerosis

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.



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Narrow down the case reports



Total: 49 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(17.5%)
31260413
Low-Dose Intrathecal Ziconotide for Spasticity From Primary Lateral Sclerosis: A Case Report.
Zhu X, Kohan LR, Goldstein RB.
A A Pract. 2019;13(1):31-33.
Spasticity
Adult Females Homo sapiens Injections, Spinal Motor Neuron Disease Muscle Spasticity Pain omega-Conotoxins
1
(17.5%)
30631918
Mills' syndrome revisited.
Jaiser SR, Mitra D, Williams TL, Baker MR.
J Neurol. 2019;266(3):667-679.
Spastic hemiparesis
CSF2
Electromyography Evoked Potentials, Motor Females Hemiplegia Homo sapiens Magnetic Resonance Imaging Male Motor Neuron Disease
1
(17.5%)
30154300
[Obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome in motor neuron disease: A case report and literature review].
Zhou L, Ouyang R, Chen P, Luo H, Wu B, Liu G.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2018;43(1):106-112.
Bulbar palsy
Hemosiderosis Homo sapiens Male Middle Aged Motor Neuron Disease Polysomnography Retrospective Studies Sleep Apnea, Obstructive
1
(17.5%)
28745069
A case series of PLS patients with frontotemporal dementia and overview of the literature.
de Vries BS, Rustemeijer LMM, van der Kooi AJ, Raaphorst J, Schroder CD, Nijboer TCW, Hendrikse J, Veldink JH, van den Berg LH, van Es MA.
Amyotroph Lateral Scler Frontotemporal Degener. 2017;18(7-8):534-548.
Progressive spasticity
Differential Diagnosis Females Homo sapiens Male Middle Aged Motor Neuron Disease Symptom Assessment
1
(17.5%)
23944734
Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.
Vengoechea J, David MP, Yaghi SR, Carpenter L, Rudnicki SA.
Amyotroph Lateral Scler Frontotemporal Degener. 2013;14(7-8):615-9.
Dysarthria Bulbar palsy
UBQLN2
p|SUB|P|506|S
Adaptor Proteins, Signal Transducing Adult Amyotrophic Lateral Sclerosis Autophagy-Related Proteins Cell Cycle Proteins Females Homo sapiens Male Middle Aged Mutation Penetrance Ubiquitins Young Adult
1
(17.5%)
23026537
Progressive supranuclear palsy presenting as primary lateral sclerosis but lacking parkinsonism, gaze palsy, aphasia, or dementia.
Nagao S, Yokota O, Nanba R, Takata H, Haraguchi T, Ishizu H, Ikeda C, Takeda N, Oshima E, Sakane K, Terada S, Ihara Y, Uchitomi Y.
J Neurol Sci. 2012;323(1-2):147-53.
Dementia Spastic gait
Astrocytes Coiled Bodies DNA-Binding Proteins Deglutition Disorders Diagnostic Errors Differential Diagnosis Disease Progression Dysarthria Females Gait Disorders, Neurologic Gliosis Homo sapiens Motor Neuron Disease Motor Neurons Muscle Spasticity Reflex, Abnormal Symptom Assessment TDP-43 Proteinopathies tau Proteins
1
(17.5%)
21369848
Anti-Ma2/Ta antibodies in a woman with primary lateral sclerosis-like phenotype and Sjogren syndrome.
Piccolo G, Tavazzi E, Jarius S, Alfonsi E, Cavagna L, Piccolo L, Zardini E, Voltz R, Franciotta D.
Neurol Sci. 2011;32(5):915-7.
Autoimmunity Progressive spastic paraparesis
Antigens, Neoplasm Autoantibodies Females Homo sapiens Middle Aged Motor Neuron Disease Nerve Tissue Proteins Ribonucleoproteins Sjogren's Syndrome
1
(17.5%)
20532474
[Slowly progressive dysarthria in primary lateral sclerosis].
Urban PP, Wellach I, Pohlmann C.
Nervenarzt. 2010;81(8):986-8, 990-1.
Spasticity
Aged, 80 and over Amyotrophic Lateral Sclerosis Differential Diagnosis Disease Progression Electromyography Evoked Potentials Females Homo sapiens Magnetic Resonance Imaging Mobility Limitation Motor Neuron Disease Neurologic Examination Pseudobulbar Palsy Spastic Paraplegia, Hereditary Tongue
1
(17.5%)
18385632
Intrathecal baclofen bolus complicated by deep vein thrombosis and pulmonary embolism. A case report.
Carda S, Cazzaniga M, Taiana C, Pozzi R.
Eur J Phys Rehabil Med. 2008;44(1):87-8.
Lower limb spasticity
Differential Diagnosis Echocardiography Females Homo sapiens Motor Neuron Disease Muscle Relaxants, Central Muscle Spasticity Pulmonary Embolism Venous Thrombosis
1
(17.5%)
18262342
Pure primary lateral sclerosis--Case reports.
Tomik B, Zur KA, Szczudlik A.
Clin Neurol Neurosurg. 2008;110(4):387-91.
Spasticity
Adult Disease Progression Dysarthria Females Follow-Up Studies Homo sapiens Male Motor Neuron Disease Neurologic Examination Paraparesis, Spastic Prospective Studies
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0001257 Spasticity Very frequent (99-80%)
HP:0002127 Abnormal upper motor neuron morphology Very frequent (99-80%)
HP:0002493 Upper motor neuron dysfunction Very frequent (99-80%)
HP:0003487 Babinski sign Very frequent (99-80%)
HP:0007034 Generalized hyperreflexia Very frequent (99-80%)
HP:0002015 Dysphagia Frequent (79-30%)
HP:0002064 Spastic gait Frequent (79-30%)
HP:0002200 Pseudobulbar signs Frequent (79-30%)
HP:0002371 Loss of speech Frequent (79-30%)
HP:0002464 Spastic dysarthria Frequent (79-30%)
HP:0003444 EMG: chronic denervation signs Frequent (79-30%)
HP:0007199 Progressive spastic paraparesis Frequent (79-30%)
HP:0010549 Weakness due to upper motor neuron dysfunction Frequent (79-30%)
HP:0006827 Atrophy of the spinal cord Occasional (29-5%)
HP:0007002 Motor axonal neuropathy Occasional (29-5%)
HP:0010873 Cervical spinal cord atrophy Occasional (29-5%)
HP:0002366 Abnormal lower motor neuron morphology Excluded (0%)
HP:0003474 Sensory impairment Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 23

HPO ID Term # of case reports
HP:0001257 Spasticity 6
HP:0001300 Parkinsonism 3
HP:0002061 Lower limb spasticity 2
HP:0000726 Dementia 1
HP:0000819 Diabetes mellitus 1
HP:0001260 Dysarthria 1
HP:0001283 Bulbar palsy 1
HP:0001285 Spastic tetraparesis 1
HP:0001324 Muscle weakness 1
HP:0001325 Hypoglycemic coma 1
HP:0001337 Tremor 1
HP:0002067 Bradykinesia 1
HP:0002172 Postural instability 1
HP:0002191 Progressive spasticity 1
HP:0002333 Motor deterioration 1
HP:0002381 Aphasia 1
HP:0003470 Paralysis 1
HP:0003701 Proximal muscle weakness 1
HP:0007269 Spinal muscular atrophy 1
HP:0010535 Sleep apnea 1
HP:0012224 Circulating immune complexes 1
HP:0030078 Lung adenocarcinoma 1
HP:0100315 Lewy bodies 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SPG7 SPG7 matrix AAA peptidase subunit, paraplegin 6687