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Mitochondrial pathology in muscle of a patient with a novel parkin mutation

Hasmet A Hanagasi1, Piraye Serdaroglu, Mehmet Ozansoy

  • 1Istanbul University, Istanbul Medical Faculty, Department of Neurology Behavioral Neurology and Movement Disorders Unit, Istanbul, Turkey. hasmet@yahoo.com

The International Journal of Neuroscience
|November 20, 2009
PubMed

Insights

This study reports a novel parkin gene mutation causing early-onset parkinsonism and a rare myopathy. Muscle biopsy revealed cytochrome oxidase deficiency, suggesting parkin

Area of Science:

  • Neurogenetics
  • Neuromuscular Disorders

Background:

  • Mutations in the parkin gene are a known cause of early-onset parkinsonism.
  • Myopathy has not been previously associated with parkin gene mutations.

Observation:

  • A 53-year-old man presented with typical early-onset, dopa-responsive parkinsonism.
  • He exhibited unusual bilateral thigh muscle hypertrophy.
  • Genetic analysis identified a novel homozygous IVS-9-1 deletion in the parkin gene.

Findings:

  • Muscle biopsy of the biceps brachii revealed abundant cytochrome oxidase (COX)-deficient fibers.
  • This represents the first documented coexistence of myopathy with COX deficiency and parkin disease.

Implications:

  • The findings suggest a potential role for parkin in muscle function.
  • This case expands the clinical spectrum of parkin-associated disorders.
  • Highlights the importance of muscle biopsy in diagnosing complex neurological conditions.

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