Primary Lateral Sclerosis: An Overview
Primary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. The clinical course is defined by a progressive motor disability due to muscle spasticity which typically invo...
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-01-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/13/2/578 |
| _version_ | 1797339704556781568 |
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| author | Veria Vacchiano Luigi Bonan Rocco Liguori Giovanni Rizzo |
| author_facet | Veria Vacchiano Luigi Bonan Rocco Liguori Giovanni Rizzo |
| author_sort | Veria Vacchiano |
| collection | DOAJ |
| description | Primary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. The clinical course is defined by a progressive motor disability due to muscle spasticity which typically involves lower extremities and bulbar muscles. Although classically considered a sporadic disease, some familiar cases and possible causative genes have been reported. Despite it having been recognized as a rare but distinct entity, whether it actually represents an extreme end of the motor neuron diseases continuum is still an open issue. The main knowledge gap is the lack of specific biomarkers to improve the clinical diagnostic accuracy. Indeed, the diagnostic imprecision, together with some uncertainty about overlap with UMN-predominant ALS and Hereditary Spastic Paraplegia (HSP), has become an obstacle to the development of specific therapeutic trials. In this study, we provided a comprehensive analysis of the existing literature, including neuropathological, clinical, neuroimaging, and neurophysiological features of the disease, and highlighting the controversies still unsolved in the differential diagnoses and the current diagnostic criteria. We also discussed the current knowledge gaps still present in both diagnostic and therapeutic fields when approaching this rare condition. |
| first_indexed | 2024-03-08T09:51:15Z |
| format | Article |
| id | doaj.art-be6b3a06084c4c97aa2ab61bbed0deb6 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-08T09:51:15Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-be6b3a06084c4c97aa2ab61bbed0deb62024-01-29T14:03:21ZengMDPI AGJournal of Clinical Medicine2077-03832024-01-0113257810.3390/jcm13020578Primary Lateral Sclerosis: An OverviewVeria Vacchiano0Luigi Bonan1Rocco Liguori2Giovanni Rizzo3IRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, 40139 Bologna, ItalyDepartment of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40126 Bologna, ItalyIRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, 40139 Bologna, ItalyIRCCS, Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, 40139 Bologna, ItalyPrimary lateral sclerosis (PLS) is a rare neurodegenerative disorder which causes the selective deterioration of the upper motor neurons (UMNs), sparing the lower motor neuron (LMN) system. The clinical course is defined by a progressive motor disability due to muscle spasticity which typically involves lower extremities and bulbar muscles. Although classically considered a sporadic disease, some familiar cases and possible causative genes have been reported. Despite it having been recognized as a rare but distinct entity, whether it actually represents an extreme end of the motor neuron diseases continuum is still an open issue. The main knowledge gap is the lack of specific biomarkers to improve the clinical diagnostic accuracy. Indeed, the diagnostic imprecision, together with some uncertainty about overlap with UMN-predominant ALS and Hereditary Spastic Paraplegia (HSP), has become an obstacle to the development of specific therapeutic trials. In this study, we provided a comprehensive analysis of the existing literature, including neuropathological, clinical, neuroimaging, and neurophysiological features of the disease, and highlighting the controversies still unsolved in the differential diagnoses and the current diagnostic criteria. We also discussed the current knowledge gaps still present in both diagnostic and therapeutic fields when approaching this rare condition.https://www.mdpi.com/2077-0383/13/2/578primary lateral sclerosishereditary spastic paraplegiaALSmotor neuron diseasereview |
| spellingShingle | Veria Vacchiano Luigi Bonan Rocco Liguori Giovanni Rizzo Primary Lateral Sclerosis: An Overview Journal of Clinical Medicine primary lateral sclerosis hereditary spastic paraplegia ALS motor neuron disease review |
| title | Primary Lateral Sclerosis: An Overview |
| title_full | Primary Lateral Sclerosis: An Overview |
| title_fullStr | Primary Lateral Sclerosis: An Overview |
| title_full_unstemmed | Primary Lateral Sclerosis: An Overview |
| title_short | Primary Lateral Sclerosis: An Overview |
| title_sort | primary lateral sclerosis an overview |
| topic | primary lateral sclerosis hereditary spastic paraplegia ALS motor neuron disease review |
| url | https://www.mdpi.com/2077-0383/13/2/578 |
| work_keys_str_mv | AT veriavacchiano primarylateralsclerosisanoverview AT luigibonan primarylateralsclerosisanoverview AT roccoliguori primarylateralsclerosisanoverview AT giovannirizzo primarylateralsclerosisanoverview |