Hereditary spastic paraplegia type 44 (SPG44)

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

Hereditary spastic paraplegia type 44 (SPG44). This is caused by mutations in the GJC2 gene on chromosome 1q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the GJC2 gene on chromosome 1q
  • The transmission is autosomal recessive

Related gap junction disorders

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Spasticity features

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Cerebral features

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Cerebellar features

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Skeletal features

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Autonomic features

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Other features

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Magnetic resonance imaging (MRI) brain: features

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Motor evoked potentials (MEPs)

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References

  1. Orthmann-Murphy JL, Salsano E, Abrams CK, et al. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain 2009; 132:426-438.
  2. Abrams CK, Scherer SS. Gap junctions in inherited human disorders of the central nervous system. Biochim Biophys Acta 2012; 1818:2030-2047. 

Related checklists

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