Spinocerebellar ataxia type 37 (SCA37)

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

Spinocerebellar ataxia type 37 (SCA37). This is caused by mutations in chromosome 1p. Fully referenced neurology checklist.

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

Locked: subscribe to see this section.

Magnetic resonance imaging (MRI) brain

Locked: subscribe to see this section.

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.

Related checklists

Loading...