Hereditary spastic paraplegia type 11 (SPG11)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Hereditary spastic paraplegia type 11 (SPG11). This is caused by mutations in the spatacsin (KIAA1840) gene on chromosome 15q.

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

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Central neurological features

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Movement disorders

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Peripheral neuropathy (PN)

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Magnetic resonance imaging (MRI) brain: features

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Other investigations

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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. 
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