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DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Filippo Manti1, Giacomina Ricciardi1, Francesca Nardecchia1

  • 1Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Italy.

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Summary

Autosomal recessive DNAJC12 disease presents with varied symptoms, including parkinsonism and neurodevelopmental disorders. Early diagnosis and treatment may improve outcomes, but long-term effects on cognitive and psychiatric issues require further study.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • DNAJC12 disease is a recently identified autosomal recessive disorder affecting biogenic amine synthesis.
  • It presents with a wide spectrum of clinical manifestations, from asymptomatic cases to early-onset parkinsonism.

Purpose of the Study:

  • To delineate the clinical phenotype and outcomes of DNAJC12 disease.
  • To evaluate the prognostic value of metabolic and genetic biomarkers.
  • To assess treatment response in affected individuals.

Main Methods:

  • Systematic collection of clinical, biochemical, and genetic data from 56 patients (51 literature, 5 unpublished).
  • Data collection followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.

Main Results:

  • Three distinct clinical patterns identified: asymptomatic, neurodevelopmental disorders (NDD) with intellectual disability/psychiatric issues/dystonia-parkinsonism (D-P), and early-onset parkinsonism.
  • Hyperphenylalaninemia was common; CSF depletion of HVA and 5-HIAA observed in symptomatic patients.
  • CSF HVA and phenylalanine levels predicted D-P; CSF HVA and age at diagnosis predicted intellectual disability and psychiatric disorders, respectively.

Conclusions:

  • DNAJC12 disease is a metabolic neurodevelopmental disorder associated with parkinsonism.
  • Neurotransmitter depletion and impaired proteostasis may cause neurological and psychiatric issues.
  • Movement disorders responded to therapy, but preventive effects on NDD and psychiatric problems remain unclear.