To report a rare case of the coexistence of 2 spinocerebellar ataxia (SCA) mutations in a single patient.
University hospital, Movement Disorders Center.
A 54-year-old man of Mexican, American Indian, and French descent with an 11-year history of gait and limb ataxia.
Main Outcome Measures
Findings of clinical examination, magnetic resonance imaging, and video electroencephalographic monitoring.
Neurologic history revealed a gradually progressive gait and limb ataxia along with muscle cramps and sensory symptoms in his distal extremities; examination revealed executive dysfunction, dysarthria, ataxia, and sensory neuronopathy. Episodes of loss of awareness were reported, but electroencephalograms were negative. Brain imaging demonstrated severe cerebellar and brainstem atrophy. Genetic evaluation of the case revealed mutations in both the SCA2 and SCA10 genes.
Our patient has a unique combination of genetic mutations for 2 different SCAs, types 2 and 10, which to our knowledge, has not been previously reported. His clinical phenotype is largely consistent with SCA2, but his possible seizures and Mexican heritage suggest influences of SCA10.