LAUSR

The spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominantly inherited progressive ataxia disorders, with a variable clinical presentation. More than 40 gene loci and mutations have been identified so far; however, an expansion of a CAG nucleotide repeat is the cause of the most common SCAs (SCA1, 2, 3, and 6). SCA12 is considered rather distinct given that it presents with a characteristic action tremor in the upper limbs, often mistaken for essential tremor. Cerebellar ataxia and other neurological features may occur later in the disease course. Here, we report on a patient with genetically confirmed SCA12, who presented with atypical parkinsonism even featuring an abnormal DaTSCAN.