Hereditary spastic paraplegia type 28 (SPG28)

Evidence-based neurology checklist on hereditary spastic paraplegia type 28 (spg28): Genetics This is caused by mutations in the DDHD1 gene on chromosome 14q The transmission is autosomal recessive It is possibly related to mitochondrial dysfunction It is associated with juvenile amyotrophic…

Genetics

  • This is caused by mutations in the DDHD1 gene on chromosome 14q
  • The transmission is autosomal recessive
  • It is possibly related to mitochondrial dysfunction
  • It is associated with juvenile amyotrophic lateral sclerosis (jALS)
  • The onset is in childhood

Clinical features

Investigations

References

  1. Bouslam N, Benomar A, Azzedine H, et al. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol 2005; 57:567-571.
  2. Mignarri A, Rubegni A, Tessa A, et al. Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28. J Neurol Sci 2016; 362:287-291. 
  3. Tesson C, Nawara M, Salih MA, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 2012; 91:1051-1064. 
  4. Miura S, Morikawa T, Fujioka R, Kosaka K, et al. A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia. Eur J Med Genet 2016; 59:413-416. 
  5. Wu C, Fan D. A novel missense mutation of the DDHD1 gene associated with juvenile amyotrophic lateral sclerosis. Front Aging Neurosci 2016; 8:291.
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