Adult-onset dystonia-parkinsonism

General Information (adopted from Orphanet):

Synonyms, Signs: DYSTONIA-PARKINSONISM, ADULT-ONSET
PARK14
PLA2G6-related dystonia-parkinsonism
Dystonia-parkinsonism, Paisan-Ruiz type
Number of Symptoms 28
OrphanetNr: 199351
OMIM Id: 612953
ICD-10: G24.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: PLA2G6-associated neurodegeneration
 -Rare genetic disease
 -Rare neurologic disease
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:0000605) Supranuclear gaze palsy 16 / 7739
2
 (HPO:0002172) Postural instability 22 / 7739
3
 (HPO:0001337) Tremor 200 / 7739
4
 (HPO:0002063) Rigidity 92 / 7739
5
 (HPO:0001260) Dysarthria 329 / 7739
6
 (HPO:0002312) Clumsiness 28 / 7739
7
 (HPO:0001268) Mental deterioration 88 / 7739
8
 (HPO:0000716) Depression 99 / 7739
9
 (HPO:0001332) Dystonia 197 / 7739
10
 (HPO:0002067) Bradykinesia 62 / 7739
11
 (HPO:0001300) Parkinsonism 75 / 7739
12
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
13
 (HPO:0001347) Hyperreflexia 363 / 7739
14
 (HPO:0001257) Spasticity 251 / 7739
15
 (HPO:0000718) Aggressive behavior 109 / 7739
16
 (HPO:0000751) Personality changes 33 / 7739
17
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
18
 (OMIM) Facial hypomimia 1 / 7739
19
 (HPO:0006892) Frontotemporal cerebral atrophy 3 / 7739
20
 (OMIM) Hypometric vertical saccades 1 / 7739
21
 (OMIM) Eyelid opening apraxia 1 / 7739
22
 (OMIM) Brain iron accumulation (in some patients) 1 / 7739
23
 (OMIM) Stiff gait 2 / 7739
24
 (OMIM) Frontotemporal dementia, variable severity 1 / 7739
25
 (HPO:0003678) Rapidly progressive 33 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (OMIM) Frontotemporal lobar atrophy 1 / 7739
28
 (HPO:0002283) Global brain atrophy 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Paisan-Ruiz et al. (2009) reported 2 unrelated consanguineous families in which a total of 3 individuals had young-adult onset of a rapidly progressive neurodegenerative disorder characterized by parkinsonism, dystonia, and severe cognitive decline. In the first family, a ...
Molecular genetics OMIM By homozygosity mapping, followed by candidate gene sequencing, of 2 unrelated families with adult-onset dystonia-parkinsonism, Paisan-Ruiz et al. (2009) identified 2 different homozygous mutations in the PLA2G6 gene (R741Q; 603604.0009 and R747W; 603604.0010, respectively). Affected members of 3 ...