Spinocerebellar ataxia 12

 

Genes
(full
coding region):		 PPP2R2B

 
Lab method: Sanger sequencing
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk relatives
3. Genetic counseling

 

Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by action tremor of the upper limbs, as well as signs/symptoms such as mild cerebellar (cerebral) dysfunction, hyperreflexia, parkinsonian features or cognitive dysfunction. Gait disturbances are usually mild or absent. Other symptoms may include slow saccades, impaired tracking movements, horizontal nystagmus, facial myokymia, and axial dystonia. SCA12 is associated with a trinucleotide (CAG) copy number increase in the promoter region of the PPP2R2B gene (MIM#604325).

*O’Hearn E et al 2001, Srivastava AK et al 2001

*Bahl S et al 2005