Hereditary spastic paraplegia type 2 (SPG2)

Evidence-based neurology checklist on hereditary spastic paraplegia type 2 (spg2): Genetics This is caused by mutations in the PLP1 gene on chromosome Xq The transmission is X-linked It is associated with Palizaeus Merzbacher disease Clinical features Differential diagnosis Magnetic resonance…

Genetics

  • This is caused by mutations in the PLP1 gene on chromosome Xq
  • The transmission is X-linked
  • It is associated with Palizaeus Merzbacher disease

Clinical features

Differential diagnosis

Magnetic resonance imaging (MRI) brain

References

  1. Rubegni A, Battisti C, Tessa A, et al. SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. J Neurol Sci 2017; 375:198-202.
  2. Hoffman-Zacharska D, Mierzewska H, Szczepanik E, et al. The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease. Med Wieku Rozwoj 2013; 17:293-300.
  3. Matsufuji M, Osaka H, Gotoh L, Shimbo H, Takashima S, Inoue K. Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2. Pediatr Neurol 2013; 49:477-481. 
  4. Goldblatt J, Ballo R, Sachs B, Moosa A. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. Clin Genet 1989; 35:116-120.
  5. Gorman MP, Golomb MR, Walsh LE, et al. Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. Neurology 2007; 68:1305-1307.

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