NBIA/DYT/PARK-PLA2G6

Alternate names

Dystonia-parkinsonism, Paisan-Ruiz type; PLA2G6-related dystonia-parkinsonism; Parkinson disease 14, autosomal recessive; DYSTONIA-PARKINSONISM, ADULT-ONSET; PARK14; Adult-onset dystonia-parkinsonism

Definition

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.

Epidemiology

Prevalence is unknown. Only 14 cases have been reported to date.

Cause

Adult-onset dystonia-parkinsonism is caused by mutations in the phospholipase A2, group VI (PLA2G6) gene located on chromosome 22q13.1.

Inheritance

Autosomal recessive inheritance, a 25% chance

Adult-onset dystonia-parkinsonism is inherited in an autosomal recessive manner, and genetic counseling is possible and recommended.

Signs and symptoms

• Disease onset occurs in late adolescence or early adulthood (usually before the age of 30) and usually presents with parkinsonism (tremor, rigidity, bradykinesia), dystonia and rapid cognitive decline.
• Eye movement abnormalities (supranuclear vertical gaze palsy, eyelid opening apraxia), pyramidal tract signs, and psychiatric features such as depression and personality changes have also been reported in some patients.
• Dopaminergic treatment is initially successful with regard to parkinsonism, but the development of prominent dyskinesias often follows.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 30%-79% of people have these symptoms

• Abnormal circulating creatine kinase concentration(Abnormal levels of creatine kinase in blood)
• Bradykinesia(Slow movements)
• Clumsiness
• Dysarthria(Difficulty articulating speech)
• Dyslexia(Reading disability)
• Dysphagia(Poor swallowing)
• Eyelid apraxia(Difficulty opening the eyelids)
• Focal dystonia
• Frontotemporal cerebral atrophy
• Frontotemporal dementia
• Generalized cerebral atrophy/hypoplasia(Generalized cerebral degeneration/underdevelopment)
• Hyperreflexia(Increased reflexes)
• Hypometric saccades
• Hypomimic face(Dull facial expression)
• Neurofibrillary tangles
• Parkinsonism with favorable response to dopaminergic medication
• Postural instability(Balance impairment)
• Progressive extrapyramidal movement disorder
• Rigidity(Muscle rigidity)
• Spasticity(Involuntary muscle stiffness, contraction, or spasm)
• Stiff hip(Hip stiffness)
• Tremor

5%-29% of people have these symptoms

• Depressivity(Depression)
• Global developmental delay
• Iron accumulation in brain
• Myoclonus
• Paranoia
• Personality changes(Personality change)
• Seizure
• Supranuclear gaze palsy

NIH genetic and rare disease info

• NIH info on NBIA/DYT/PARK-PLA2G6

NBIA/DYT/PARK-PLA2G6 is a rare disease.

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