Gene/phenotype/disorder under study
OMIM #603604
Abstract
PLA2G6-associated neurodegeneration (PLAN) is a heterogeneous group of autosomal recessive neurological diseases lying on a wide phenotypic continuum. Pediatric forms include infantile (INAD) and atypical neuroaxonal dystrophy (ANAD), while adult-onset forms include dystonia-parkinsonism and early-onset parkinsonism, with presentation usually around age 28-38 years. We are gathering a large cohort of new pediatric- and adult-onset patients, assessing demographic, genetic and clinical data, including pyramidal dysfunction, parkinsonism, hyperkinetic disorders, ataxia, neuropathy, and epilepsy, aiming at an accurate genotype-phenotype correlation and phenotypic clusters identification.
Coordinating clinicians
Reza Maroofian – r.maroofian@ucl.ac.uk
Vidal Yahya – vidal.yahya@unimi.it
Institutions
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK
Department of Neurology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes