Hereditary spastic paraplegia type 11 (SPG11)

Evidence-based neurology checklist on hereditary spastic paraplegia type 11 (spg11): Genetics This is caused by mutations in the spatacsin (KIAA1840) gene on chromosome 15q The transmission is autosomal recessive The onset is in the second to third decades There are pure and complicated forms The…

Genetics

  • This is caused by mutations in the spatacsin (KIAA1840) gene on chromosome 15q
  • The transmission is autosomal recessive
  • The onset is in the second to third decades
  • There are pure and complicated forms
  • The gene is associated with juvenile motor neurone disease

Pathological features

Central neurological features

Movement disorders

Peripheral neuropathy (PN)

Magnetic resonance imaging (MRI) brain: features

Other investigations

References

  1. Teive HA, Iwamoto FM, Della Coletta MV, et al. Hereditary spastic paraplegia associated with thin corpus callosum. Arq Neuropsiquiatr 2001; 59:790-792. 
  2. Hehr U, Bauer P, Winner B, et al. Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol 2007; 62:656-665.
  3. Stevanin G, Azzedine H, Denora P, et al; SPATAX consortium. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 2008; 131:772-784. 
  4. Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7:1127-1138.
  5. Orlacchio A, Babalini C, Borreca A, et al. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain 2010; 133:591-598. 
  6. And 3 more. Subscribe to see the full list

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