Mutations in the PLA2G6 gene are well known in the classical phenotype called infantile neuro-axonal dystrophy (INAD), a severe neurodegenerative disease starting in infancy with homogeneous clinical, radiological, electrophysiological and pathophysiological features, with early death. Other clinical forms in pediatric patients called atypic INAD have been described in some patients. Expansion of high-throughput sequencing in the last decades has lead to identify mutations in the PLA2G6 gene in pediatric patients with late-onset phenotypes associating progressive ataxia, spastic paraplegia, cognitive regression and/or dystonia / parkinsonism. A high variability in radiological and electrophysiological findings is also described. Less than twenty patients with a pediatric onset have been reported with an atypical INAD. Very poor data are available on management and therapeutic options in these patients and global prognostic is not known. This multicentric retrospective study will record clinical, radiological, electrophysiological and pathophysiological data in pediatric patients with genetically confirmed atypical INAD. Management, therapeutics and evolution of the disease will also be recorded.
Age range
18 Years
Sex
ALL
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Birth term in gestational weeks
Timeframe: through study completion, an average of 9 months
Age at sitting in months
Timeframe: through study completion, an average of 9 months
Age at walking in years and months
Timeframe: through study completion, an average of 9 months
Age at first language in years and months
Timeframe: through study completion, an average of 9 months
Acquisition of fine motor skills
Timeframe: through study completion, an average of 9 months
Autistic troubles
Timeframe: through study completion, an average of 9 months
Neurological regression
Timeframe: through study completion, an average of 9 months
Progressivity of symptoms
Timeframe: through study completion, an average of 9 months
Axial hypotonia
Timeframe: through study completion, an average of 9 months
Movement disorders
Timeframe: through study completion, an average of 9 months
Pyramidal signs
Timeframe: through study completion, an average of 9 months
Intellectual deficiency
Timeframe: through study completion, an average of 9 months
Peripheral neurological signs
Timeframe: through study completion, an average of 9 months
Seizures
Timeframe: through study completion, an average of 9 months
Behavioral or mood disorders
Timeframe: through study completion, an average of 9 months
Orthopaedic disorders
Timeframe: through study completion, an average of 9 months
Sleep disorders
Timeframe: through study completion, an average of 9 months
Gastro-intestinal disorders
Timeframe: through study completion, an average of 9 months
Visual abnormalities
Timeframe: through study completion, an average of 9 months
Radiological abnormalities
Timeframe: through study completion, an average of 9 months
GMFCS
Timeframe: through study completion, an average of 9 months