PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET

General Information (adopted from Orphanet):

Synonyms, Signs: PALLIDOPYRAMIDAL SYNDROME
PALLIDO-PYRAMIDAL SYNDROME
PARK15
PARKINSONIAN-PYRAMIDAL SYNDROME
PKPS
Number of Symptoms 23
OrphanetNr:
OMIM Id: 260300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000514) Slow saccadic eye movements 21 / 7739
2
 (HPO:0001337) Tremor 200 / 7739
3
 (HPO:0012407) Scissor gait 6 / 7739
4
 (HPO:0002063) Rigidity 92 / 7739
5
 (HPO:0001347) Hyperreflexia 363 / 7739
6
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
7
 (HPO:0002061) Lower limb spasticity 56 / 7739
8
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
9
 (HPO:0002067) Bradykinesia 62 / 7739
10
 (HPO:0002548) Parkinsonism with favorable response to dopaminergic medication 13 / 7739
11
 (HPO:0001332) Dystonia 197 / 7739
12
 (HPO:0003487) Babinski sign 179 / 7739
13
 (HPO:0001260) Dysarthria 329 / 7739
14
 (HPO:0002172) Postural instability 22 / 7739
15
 (HPO:0001300) Parkinsonism 75 / 7739
16
 (HPO:0001762) Talipes equinovarus 309 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Reduced upgaze 1 / 7739
19
 (HPO:0011462) Young adult onset 7 / 7739
20
 (HPO:0003677) Slow progression 134 / 7739
21
 (OMIM) Hypomimia 3 / 7739
22
 (OMIM) Spasticity, mainly in the lower limbs 1 / 7739
23
 (OMIM) Monotone speech 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Davison (1954) described 5 affected cases in 3 families. In 1 family, a brother and sister with first-cousin parents were affected, and in another family, a brother and sister with uncle-niece parents were affected. The illness began in ...
Molecular genetics OMIM In affected members of an Iranian family with parkinsonian-pyramidal syndrome, Shojaee et al. (2008) identified a homozygous mutation in the FBXO7 gene (605648.0001).

In affected members of an Italian and a Dutch family with PARK15, Di ...