Novel CACNA1A variant may cause cervical dystonia and cerebellar ataxia syndrome

Pure spinocerebellar ataxias (SCA) are rare in isolation; they commonly appear in association with other neurological disorders. Very rarely, cerebellar ataxia (typically slowly progressive) is associated with isolated cervical dystonia. This combination of disorders gives rise to great diagnostic uncertainty. The literature includes reports of several recent cases of this association, which rule out the mutations causing common SCAs and do not identify a definite cause. It has been suggested that this combination of disorders may be a distinct clinical entity. We present the case of a patient with a syndrome of cervical dystonia and cerebellar ataxia similar to those reported in the literature, in which we detected an as yet undescribed pathogenic mutation that may be the cause of the syndrome, at least in our patient