Hereditary spastic paraplegia type 28 (SPG28)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Hereditary spastic paraplegia type 28 (SPG28). This is caused by mutations in the DDHD1 gene on chromosome 14q. Fully referenced neurology checklist.

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

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Investigations

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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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