Hereditary spastic paraplegia type 55 (SPG55)

Evidence-based neurology checklist on hereditary spastic paraplegia type 55 (spg55): Genetics This is caused by mutations in the C12orf65 gene on chromosome 12q The transmission is autosomal recessive Central features Peripheral features Magnetic resonance imaging (MRI) brain: features Nerve…

Genetics

  • This is caused by mutations in the C12orf65 gene on chromosome 12q
  • The transmission is autosomal recessive

Central features

Peripheral features

Magnetic resonance imaging (MRI) brain: features

Nerve conduction studies (NCS): features

Sural nerve biopsy: features

Muscle biopsy

References

  1. Shimazaki H, Takiyama Y, Ishiura H, et al; Japan Spastic Paraplegia Research Consortium (JASPAC). A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). J Med Genet 2012; 49:777-784.
  2. Buchert R, Uebe S, Radwan F, et al. Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation. Eur J Med Genet 2013; 56:599-602. 
  3. MacDermot KD, Walker RW. Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs. JNNP 1987; 50:1342-1347.
  4. Spiegel R, Mandel H, Saada A, et al. Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship. Eur J Hum Genet 2014; 22:1019-1025. 

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