Hereditary spastic paraplegia type 3 (SPG3)

Evidence-based neurology checklist on hereditary spastic paraplegia type 3 (spg3): Genetics This is caused by mutations in the atlastin 1 (ATL1) gene on chromosome 14q The transmission is autosomal dominant There are more than 60 gene mutations It causes 10% of HSP cases The onset is in early…

Genetics

  • This is caused by mutations in the atlastin 1 (ATL1) gene on chromosome 14q
  • The transmission is autosomal dominant
  • There are more than 60 gene mutations
  • It causes 10% of HSP cases
  • The onset is in early childhood onset
  • It usually presents as pure HSP

Clinical features

Differential diagnosis

Positron emission tomography (PET) scan

References

  1. Dürr A, Camuzat A, Colin E, et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 2004; 61:1867-1872.
  2. Zhao GH, Liu XM. Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: a literature reanalysis. Transl Neurodegener 2017; 6:9. 
  3. Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat 2004; 23:98.
  4. Al-Maawali A, Rolfs A, Klingenhaeger M, Yoon G. Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family. J Clin Neuromuscul Dis 2011; 12:143-146. 
  5. Fusco C, Frattini D, Farnetti E, et al. Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. Brain Dev 2010; 32:592-594. 
  6. And 4 more. Subscribe to see the full list

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