X-linked parkinsonism-spasticity syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: XPDS
Number of Symptoms 13
OrphanetNr: 363654
OMIM Id: 300911
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare parkinsonian syndrome due to genetic neurodegenerative disease
 -Rare genetic disease
Rare parkinsonian syndrome due to neurodegenerative disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001347) Hyperreflexia rare [HPO:skoehler] 363 / 7739
2
 (HPO:0003487) Babinski sign rare [HPO:skoehler] 179 / 7739
3
 (HPO:0002396) Cogwheel rigidity 6 / 7739
4
 (HPO:0002267) Exaggerated startle response 42 / 7739
5
 (HPO:0002067) Bradykinesia 62 / 7739
6
 (HPO:0001257) Spasticity rare [HPO:skoehler] 251 / 7739
7
 (HPO:0002322) Resting tremor 14 / 7739
8
 (HPO:0007034) Generalized hyperreflexia 33 / 7739
9
 (HPO:0001300) Parkinsonism 75 / 7739
10
 (OMIM) Four-repeat tau plaques in the striatum 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (MedDRA:10026863) Masked facies 8 / 7739
13
 (HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Poorkaj et al. (2010) reported a multigenerational family of Danish and German descent in which 5 males in 3 generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity. The age at symptom onset ...
Molecular genetics OMIM In affected members of a family with X-linked parkinsonism with spasticity, originally reported by Poorkaj et al. (2010), Korvatska et al. (2013) identified a c.345C-T transition in the ATP6AP2 gene (S115S; 300556.0002) that was shown to increase the ...