Autosomal recessive spastic paraplegia type 39
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NTE-RELATED MOTOR NEURON DISORDER NTEMND SPG39 Spastic paraplegia due to neuropathy target esterase mutation Spastic paraplegia due to NTE mutation |
| Number of Symptoms | 9 |
| OrphanetNr: | 139480 |
| OMIM Id: |
612020
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| ICD-10: |
G11.4 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 families [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive complex spastic paraplegia
-Rare genetic disease -Rare neurologic disease Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -Rare genetic disease |
Symptom Information:
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(HPO:0001251) | Ataxia | rare [HPO:skoehler] | 413 / 7739 | |||
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(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0007020) | Progressive spastic paraplegia | 18313024 | IBIS | 5 / 7739 | ||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0009053) | Distal lower limb muscle weakness | 18313024 | IBIS | 13 / 7739 | ||
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(HPO:0003693) | Distal amyotrophy | 18313024 | IBIS | 118 / 7739 | ||
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(HPO:0006827) | Atrophy of the spinal cord | 18313024 | IBIS | 5 / 7739 | ||
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(HPO:0001272) | Cerebellar atrophy | rare [HPO:skoehler] | 197 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) | The form of motor neuron disease designated spastic paraplegia-39 (SPG39) by Rainier et al. (2008) is an autosomal recessive progressive spastic paraplegia associated with distal upper and lower extremity wasting. |
| Clinical Description OMIM |
Rainier et al. (2008) reported a consanguineous family of Ashkenazi Jewish ancestry and an unrelated nonconsanguineous family of northern European ancestry in which affected subjects developed childhood onset of insidiously progressive lower extremity spastic weakness and progressive wasting ... |
| Molecular genetics OMIM |
In affected members of 2 families with motor neuron disease, Rainier et al. (2008) detected homozygosity or compound heterozygosity for mutations in the NTE gene. Affected subjects in the consanguineous kindred were homozygous for a disease-specific NTE mutation, ... |