SCA-23 (SPINOCEREBELLAR ATAXIA), PDYN GENE MUTATION

Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). ADCA I is characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. Spinocerebellar ataxia-23 is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria.SCA23 is caused by heterozygous mutations in the PDYN gene. The majority of the reported mutations lie in exon 4 of PDYN gene.

  • Test Type:
  • Pre-test Information:
    it is mandatory to send a Signed Genomics Clinical information form (Form 20) with the specimen.
  • Report Delivery:
    Sample by Tue 11 AM; report Sat
  • Components:
    0
  • Clinical Form:

Sample Report