Hereditary spastic paraplegia type 4 (SPG4)

Evidence-based neurology checklist on hereditary spastic paraplegia type 4 (spg4): Genetics This is caused by mutations in the spastin (SPAST) gene on chromosome 2p The transmission is autosomal dominant It possibly demonstrates genetic anticipation It constitutes 40% of HSPs The onset age is from…

Genetics

  • This is caused by mutations in the spastin (SPAST) gene on chromosome 2p
  • The transmission is autosomal dominant
  • It possibly demonstrates genetic anticipation
  • It constitutes 40% of HSPs
  • The onset age is from childhood to old age
  • It typically presents as pure HSP

Central neurological features

Peripheral neurological features

Psychiatric features

Magnetic resonance imaging (MRI) brain: features

Pathology

References

  1. Solowska JM, Baas PW. Hereditary spastic paraplegia SPG4: what is known and not known about the disease. Brain 2015; 138:2471-2484.
  2. Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 2012; 318:1-18.
  3. Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7:1127-1138.
  4. Hensiek A, Kirker S, Reid E. Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing. J Neurol 2015; 262:1601-1612.
  5. Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 2014; 261:518-539.
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