Title

PLAN (PLA2G6-associated Neurodegeneration): A Natural History Study.

Read more about the study HERE

To participate, please download the Project Proforma HERE.

When completed, please return to:

Dr Audrey Soo

Room 126
Developmental Neurosciences Programme
UCL GOS Institute of Child Health
30 Guilford Street
London WC1N 1EH
UK

Lead Investigator

Professor Manju A Kurian
Professor of Neurogenetics
UCL GOS Institute of Child Health
London UK

Additional Investigator

Dr Audrey Soo
Paediatric Neurology Clinical Training Research Fellow
NIHR Great Ormond Street Biomedical Research Centre
London UK

Case Definition

Patients with a clinical phenotype consistent with PLA2G6-associated Neurodegeneration (PLAN), harbouring disease-causing mutations in the PLA2G6 gene

Inclusion Criteria:

  • Patients with a confirmed diagnosis of PLAN residing in the UK/Ireland
  • Clinical phenotypes will include
  1. Classic infantile neuroaxonal dystrophy (INAD)
  2. Atypical neuroaxonal dystrophy (atypical NAD)
  3. PLA2G6-related dystonia-parkinsonism
  • Two pathogenic mutations in PLA2G6 gene

Exclusion Criteria:

  • Patients where the diagnosis of PLAN has not been established by the identification of two disease-causing mutations in PLA2G6
  • Other Neurodegeneration with Brain Iron Accumulation (NBIA) subtypes