Primary lateral sclerosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PLS, ADULT PLS PLSA1 PLSA Adult-onset PLS Adult-onset primary lateral sclerosis |
| Number of Symptoms | 15 |
| OrphanetNr: | 35689 |
| OMIM Id: |
611637
|
| ICD-10: |
G12.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
10036704 |
| Snomed: |
81211007 |
Prevalence, inheritance and age of onset:
| Prevalence: | 1.5 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic neurodegenerative disease
-Rare genetic disease Motor neuron disease -Rare neurologic disease Rare neurodegenerative disease -Rare neurologic disease |
Symptom Information:
|
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
|
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(HPO:0002464) | Spastic dysarthria | 5 / 7739 | ||||
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(HPO:0002064) | Spastic gait | 46 / 7739 | ||||
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(HPO:0001285) | Spastic tetraparesis | 29 / 7739 | ||||
|
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0002127) | Abnormal upper motor neuron morphology | 15 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
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(HPO:0003581) | Adult onset | 117 / 7739 | ||||
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(OMIM) | No sensory abnormalities | 5 / 7739 | ||||
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(OMIM) | Spinal cord atrophy | 2 / 7739 | ||||
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(OMIM) | Spasticity of lower and upper limbs | 3 / 7739 | ||||
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(OMIM) | Bulbar spasticity | 1 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
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(OMIM) | Absence of lower motor neuron involvement | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Although primary lateral sclerosis (PLS) is similar to amyotrophic lateral sclerosis (ALS; 105400), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became ... |
| Clinical Description OMIM |
Pringle et al. (1992) reported 8 unrelated patients with adult-onset sporadic PLS and suggested diagnostic criteria. Clinical features were limited to those associated with the descending motor tracts and included spastic tetraparesis, pseudobulbar affect, spastic dysarthria, hyperreflexia, and ... |
| Molecular genetics OMIM |
- Exclusion Studies Brugman et al. (2007) found no mutations in the ALS2 gene among 51 presumably unrelated Dutch patients with adult-onset PLS. In a large French Canadian family with adult PLS, Valdmanis et ... |