Autosomal recessive spastic paraplegia type 39
Synonyms: SPG39 · Spastic paraplegia due to NTE mutation · Spastic paraplegia due to neuropathy target esterase mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 39 | SPG39 · Spastic paraplegia due to NTE mutation · Spastic paraplegia due to neuropathy target esterase mutation |
| fr | Paraplégie spastique autosomique récessive type 39 | Paraplégie spastique due à une mutation de l'estérase neurotoxique · Paraplégie spastique due à une mutation de la NTE · SPG39 |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 39 | SPG39 · Spastische Paraplegie durch NTE (neuropathy target esterase)-Genmutation |
| es | Paraplejía espástica autosómica recesiva tipo 39 | |
| it | Paraplegia spastica autosomica recessiva, tipo 39 | Paraplegia spastica da mutazione dell'esterasi bersaglio della neuropatia · Paraplegia spastica da mutazione di NTE · SPG39 |
| nl | Autosomaal recessieve spastische paraplegie type 39 | SPG39 · Spastische paraplegie door NTE-mutatie · Spastische paraplegie door neuropathisch target esterase-mutatie |
| pt | Paraplegia espástica autossómica recessiva tipo 39 | Paraplegia espástica por mutação NTE · SPG39 |
| pl | Autosomalna recesywna paraplegia spastyczna typu 39 | Paraplegia spastyczna z powodu mutacji NTE · Spastyczna paraplegia z powodu mutacji neuropatycznej esterazy · SPG39 |
| cs | Autozomálně recesivní spastická paraplegie, typ 39 | SPG39 · Spastická paraplegie způsobená mutacemi NTE genu · Spastická paraplegie způsobená mutací neuropatii cílené esterázou |
| uk | Аутосомно-рецесивна спастична параплегія, тип 39 | Спастична параплегія внаслідок мутації мішені естерази нейропатії · Спастична параплегія внаслідок мутації NTE · SPG39 |
| zh | 常染色体隐性遗传痉挛性截瘫39型 | 神经病靶标酯酶所致痉挛性截瘫 |
| tr | Otozomal resesif spastik parapleji tip 39 | SPG39 · NTE mutasyonuna bağlı spastik parapleji · Nöropati hedef esteraz mutasyonuna bağlı spastik parapleji |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612020 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0012787 | E | validated | |
| MeSH | C567433 | E | validated | |
| UMLS | C2677586 | E | validated | |
| GARD | 4924 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNPLA6 | Disease-causing germline mutation(s) in | Assessed | HGNC:16268 | ENSG00000032444 | 603197 | 19p13.2 | patatin like domain 6, lysophospholipase | 18313024[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 24355708[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24355708[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
9 annotations · validated 2018-04-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0003487 | Babinski sign | |
| HP:0009055 | Generalized limb muscle atrophy | |
| HP:0001347 | Hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0001258 | Spastic paraplegia | |
| Occasional (29-5%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0002066 | Gait ataxia | |
Annotation source: 18313024[PMID]_24355708[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139480
- This record as JSON: /data/d/139480.json