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DNAJC12 and dopa-responsive nonprogressive parkinsonism.

Letizia Straniero1, Ilaria Guella2, Roberto Cilia3

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DNAJC12 gene mutations can cause early-onset parkinsonism with mild intellectual disability and motor symptoms. These rare mutations broaden the clinical spectrum of DNAJC12 deficiency, presenting as dopa-responsive parkinsonism.

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Biallelic DNAJC12 mutations are known to cause hyperphenylalaninemia, neurodevelopmental delay, and dystonia in children.
  • The clinical spectrum and genetic basis of early-onset parkinsonism are not fully elucidated.

Purpose of the Study:

  • To investigate the role of DNAJC12 mutations in early-onset parkinsonism.
  • To characterize the clinical and molecular features of patients with DNAJC12 deficiency presenting with parkinsonian symptoms.

Main Methods:

  • Genetic sequencing to identify DNAJC12 variants in patients with early-onset parkinsonism.
  • Clinical assessment of probands, including neurological examination and response to levodopa.
  • Neuropathological examination of affected individuals.
  • Analysis of DNAJC12 transcript levels.

Main Results:

  • Identified homozygous null DNAJC12 variants in two kindreds with early-onset parkinsonism.
  • Probands exhibited mild intellectual disability, nonprogressive motor symptoms, and a positive response to levodopa.
  • Neuropathology showed substantia nigra depigmentation and cell loss without alpha-synuclein pathology.
  • DNAJC12 transcripts were reduced in patients, indicating impaired gene function.

Conclusions:

  • DNAJC12 mutations rarely cause dopa-responsive nonprogressive parkinsonism in adulthood.
  • These findings expand the known clinical spectrum of DNAJC12 deficiency.
  • DNAJC12 deficiency should be considered in the differential diagnosis of early-onset parkinsonism, particularly in the absence of alpha-synuclein pathology.