Spinocerebellar ataxia type 37 (SCA37)

Evidence-based neurology checklist on spinocerebellar ataxia type 37 (sca37): Genetics This is caused by mutations in chromosome 1p It is possibly caused by an ATTTC pentanucleotide repeat insertion The transmission is autosomal dominant The mean onset age is 48 years Clinical features Magnetic…

Genetics

  • This is caused by mutations in chromosome 1p
  • It is possibly caused by an ATTTC pentanucleotide repeat insertion
  • The transmission is autosomal dominant
  • The mean onset age is 48 years

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Serrano-Munuera C, Corral-Juan M, Stevanin G, et al. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. JAMA Neurol 2013; 70:764-771.
  2. Corral-Juan M, Serrano-Munuera C, Rábano A, et al. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. Brain 2018; 141:1981-1997.
  3. Seixas AI, Loureiro JR, Costa C, et al. A pentanucleotide atttc repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia. Am J Hum Genet 2017; 101:87-103.
  4. Loureiro JR, Oliveira CL, Sequeiros J, Silveira I. A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37. J Hum Genet 2018; 63:981-987.

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