Hereditary spastic paraplegia type 6 (SPG6)

Evidence-based neurology checklist on hereditary spastic paraplegia type 6 (spg6): Genetics This is caused by mutations in chromosome 15q The transmission is autosomal dominant It usually presents as pure HSP Clinical features

Genetics

  • This is caused by mutations in chromosome 15q
  • The transmission is autosomal dominant
  • It usually presents as pure HSP

Clinical features

References

  1. Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 2003; 73:967-971. 
  2. Svenstrup K, Møller RS, Christensen J, Budtz-Jørgensen E, Gilling M, Nielsen JE. NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. Eur J Neurol 2011; 18:1197-1199.  
  3. Fink JK, Sharp GB, Lange BM, et al. Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family. Neurology 1995; 45:325-331.
  4. Reed JA, Wilkinson PA, Patel H, et al. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics 2005; 6:79-84.
  5. Du J, Hu YC, Tang BS, et al. Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1. Clin Neurol Neurosurg 2011; 113:480-482.

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