1. Diseases
  2. Adult-onset dystonia-parkinsonism

Adult-onset dystonia-parkinsonism

Disease Export to PDF
Name:
Adult-onset dystonia-parkinsonism
Description:
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
ORPHAcode:
199351
Synonyms:
Dystonia-parkinsonism, Paisan-Ruiz type
PARK14
PLA2G6-related dystonia-parkinsonism
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
PLA2G6
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Neurodegeneration with Brain Iron Accumulation (NBIA) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AP4M1 100.00 1
    ATP13A2 100.00 1
    C19ORF12 100.00 1
    COASY 100.00 1
    CP 100.00 1
    CRAT 100.00 1
    DCAF17 100.00 1
    DDHD1 100.00 1
    FA2H 100.00 1
    FTL 100.00 1
    GTPBP2 100.00 1
    PANK2 100.00 1
    PLA2G6 100.00 1
    SCP2 100.00 1
    WDR45 100.00 1
    REPS1 100.00 1