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Recessive twinkle mutations cause severe epileptic encephalopathy.

Tuula Lönnqvist1, Anders Paetau, Leena Valanne

  • 1Division of Child Neurology, Helsinki University Central Hospital, Helsinki, Finland. tuula.lonnqvist@hus.fi

Brain : a Journal of Neurology
|March 24, 2009
PubMed
Summary

Recessive mutations in the C10orf2 gene (Twinkle) cause infantile onset spinocerebellar ataxia, characterized by severe neurological and psychiatric symptoms, including refractory epilepsy and stroke-like lesions.

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Area of Science:

  • Genetics and Molecular Biology
  • Neuroscience
  • Mitochondrial Biology

Background:

  • The C10orf2 gene encodes the Twinkle protein, crucial for mitochondrial DNA maintenance.
  • Recessive mutations in C10orf2 are linked to mitochondrial DNA depletion, encephalopathy, and hepatoencephalopathy.
  • Previous studies identified infantile onset spinocerebellar ataxia (IOSA) linked to Twinkle mutations.

Purpose of the Study:

  • To describe the progression of encephalopathy in IOSA.
  • To compare IOSA's pathognomonic features with other mitochondrial encephalopathies.
  • To highlight neurological and psychiatric manifestations in a 20-year follow-up of IOSA patients.

Main Methods:

  • Longitudinal follow-up of 23 patients with IOSA.
  • Clinical assessment of neurological, psychiatric, and epileptic symptoms.
  • Magnetic resonance imaging (MRI) and neuropathological examination.

Main Results:

  • Refractory status epilepticus, migraine-like headaches, and severe psychiatric symptoms are pathognomonic for IOSA.
  • Epileptic statuses occurred in 13/15 patients, with onset between 2 and 34 years.
  • MRI revealed focal, stroke-like lesions with permanent brain damage and atrophy, confirmed neuropathologically.

Conclusions:

  • IOSA presents with a severe encephalopathy beyond spinocerebellar degeneration.
  • Mitochondrial DNA helicase Twinkle mutations lead to progressive neurological decline.
  • IOSA shares features with other mitochondrial encephalopathies, necessitating careful differential diagnosis.