NUBPL mutations in combined dystonia with bilateral striatal necrosis and cerebellar atrophy

Takeaway

  • Mitochondrial complex I NUBPL mutations were identified as the cause of autosomal-recessive dystonia combined with cerebellar ataxia and pyramidal involvement.

Why this matters

  • New techniques in genetic analysis support the easier identification and diagnosis of dystonia syndromes, helping to facilitate counselling and therapy decisions.