Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Synonyms: PSP-PAGF · PSP-pure akinesia with gait freezing
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by progressive freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | PSP-PAGF · PSP-pure akinesia with gait freezing |
| fr | Syndrome de paralysie supranucléaire progressive-akinésie pure avec freezing de la marche | PSP-PAGF · PSP-akinésie pure avec freezing de la marche |
| de | Progressive supranukleäre Blickparese-reine Akinesie mit Gang-Blockaden-Syndrom | PSP-Akinesie mit Gang-Blockaden · PSP-PAGF |
| es | Síndrome de parálisis supranuclear progresiva-acinesia pura con congelación de la marcha | PSP-PAGF · PSP-acinesia pura con congelación de la marcha |
| it | Sindrome paralisi sopranucleare progressiva-acinesia pura con blocco della marcia | PSP-PAGF · PSP-acinesia pura con freezing della deambulazione |
| nl | Progressieve supranucleaire paralyse - zuivere akinesie met gangblokkade-syndroom | PSP-PAGF · PSP-zuivere akinesie met gangblokkade · Progressieve supranucleaire verlamming - zuivere akinesie met gangblokkade-syndroom |
| pt | Síndrome de paralisia supranuclear progressiva-acinésia pura com paralisia da marcha | |
| pl | Postępujące porażenie nadjądrowe - czysta akinezja z zamrożeniem chodu | PSP-czysta akinezja z zamrożeniem chodu · PSP-PAGF |
| cs | Syndrom zahrnující progresivní supranukleární obrnu a čistým akinetickým freezingem chůze | PSP‑ PAGF · PSP s čistým akinetickým freezingem chůze |
| uk | Синдром прогресуючого надядерного паралічу-чистої акінезії із завмиранням ходи | PSP-PAGF · PSP - чиста акінезія із завмиранням ходи |
| zh | 进行性核上性麻痹-完全运动不能伴冻结步态 | PSP-完全运动不能伴冻结步态 |
| tr | Yürüme donması sendromu ile seyreden ilerleyici supranükleer felç-saf akinezi | PSP-PAGF · Yürüyüş donması ile seyreden PSP-saf akinezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260540 | NTBT | validated | |
| ICD-10 | G23.1 | NTBT | attributed | validated |
| ICD-11 | 8A00.10 | NTBT | index | validated |
| MONDO | 0016562 | E | validated | |
| UMLS | C5679851 | 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 (1):
- ORPHA:99750Atypical progressive supranuclear palsy syndrome
rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAPT | Major susceptibility factor in | Assessed | HGNC:6893 | ENSG00000186868 | 157140 | 17q21.31 | microtubule associated protein tau |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | [EXPERT] |
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
21 annotations · validated 2018-12-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002304 | Akinesia | |
| HP:0031825 | Freezing of gait | |
| Very frequent (99-80%) | ||
| HP:0002317 | Unsteady gait | |
| Frequent (79-30%) | ||
| HP:0031434 | Abnormal speech prosody | |
| HP:0005329 | Fixed facial expression | |
| HP:0002141 | Gait imbalance | |
| HP:0031908 | Micrographia | |
| HP:0031814 | Palilalia | |
| HP:0002464 | Spastic dysarthria | |
| HP:0031937 | Tachylalia | |
| HP:0001621 | Weak voice | |
| Occasional (29-5%) | ||
| HP:0000726 | Dementia | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0002527 | Falls | |
| HP:0002505 | Loss of ambulation | |
| HP:0007311 | Short stepped shuffling gait | |
| Very rare (<4-1%) | ||
| HP:0000643 | Blepharospasm | |
| HP:0000571 | Hypometric saccades | |
| HP:0000657 | Oculomotor apraxia | |
| Excluded (0%) | ||
| HP:0002067 | Bradykinesia | |
| HP:0002063 | Rigidity | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28356654[PMID]_29051824[PMID]_27624121[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/240094
- This record as JSON: /data/d/240094.json