SCA-11 (SPINOCEREBELLAR ATAXIA), TTBK2 GENE MUTATION

Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs. ADCA III is a pure autosomal dominant cerebellar ataxia, a relatively benign, late-onset, slowly progressive neurologic disorder characterized by an uncomplicated cerebellar syndrome. Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features, peripheral neuropathy, and dystonia are seen on occasion. This test targets the exon 12 of TTBK2 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