Spinocerebellar ataxia type 2

(SCA1)

Prevalence 1 to 2/100,000. Autosomal dominant transmission with complete penetrance and anticipation phenomenon (the disease starts earlier in successive generations): the disease is due to an abnormal expansion of CAG trinucleotides in ATXN2 (12p24.1) gene which codes for ataxin. Disease occurs when the CAG repeats superior to 32. A number of repeats greater than 100 produces an early appearance of symptoms (infantile and juvenile forms)

Clinical signs :

cerebellar ataxia
postural tremor
areflexia in the upper limbs retinitis pigmentosa
infantile form : hypotonia,loss of previous developmental acquisitions, epilepsy (hypsarythmia)

Anesthetic implications:

dysphagia (risk of pulmonary gastric contents inhalation during the recovery period); spasticity, epilepsy

References :

- Singh A, Faruq M, Mukerji M, Dwivedi MK, Pruthi S, Kapoor S.
Infantile onset spinocerebellar ataxia 2 (SCA2) : a clinical report with review of previous cases.
J Child Neurol 2014 ; 29 :139-44

Updated: November 2016