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Autosomal Recessive Parkinson Disease 14 (MONDO:0013060)

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.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0013060

Internal:14098

Synonyms

PARK14

PLA2G6 hereditary late onset Parkinson disease

PLA2G6-related dystonia-parkinsonism

autosomal recessive Parkinson disease type 14

dystonia-parkinsonism, Paisan-Ruiz type

hereditary late onset Parkinson disease caused by mutation in PLA2G6

Parkinson disease 14, autosomal recessive

adult-onset dystonia - parkinsonism

autosomal recessive Parkinson's disease 14

dystonia-Parkinsonism, adult-onset

Mapped terms

DOID:0060900

GARD:0012568

MEDGEN:414488

MESH:C567844

OMIM:612953

Orphanet:199351

SCTID:720466001

UMLS:C2751842

Child terms

Unknown children.

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