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 Apostolos Papandreou

Room 109, Level 1 CMGU
Developmental Neurosciences Programme
UCL-Great Ormond Street Institute of Child Health
30 Guilford Street
London
WC1N 1EH
UK

Lead Investigator

Dr Manju A Kurian
Wellcome Trust Intermediate Clinical Fellow and Honorary Consultant in Paediatric Neurology
UCL- Great Ormond Street Institute of Child Health,
London UK

Additional Investigator

Dr Apostolos Papandreou
Paediatric Neurology Registrar, BPNA/Action Medical Clinical Research Training Fellow
UCL- Great Ormond Street Institute of Child Health,
London UK

Case Definition

Patients with a clinical phenotype consistent with phospholipase A2-associated neurodegeneration (PLAN), harbouring disease-causing mutations in the PLA2G6 gene

Age Range for Cases

  • Lower limit: 0 years
  • No upper age limit

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 fully and comprehensively established by the identification of two disease-causing mutations in PLA2G6
  • Other NBIA subtypes