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Patients displaying a slowly progressive syndrome combining dystonia and cerebellar ataxia are relatively rare and can cause considerable diagnostic uncertainty. The main differentials in these cases are the genetic spinocerebellar ataxias (SCAs), in which dystonia can be observed and can even be the presenting feature.1 We recently reported five patients with mainly cervical dystonia (torticollis) and cerebellar ataxia in whom common SCA mutations were excluded and no definite cause was established.2 Here, we report six further patients.
This 58-year-old man of Indian ethnicity presented with gait unsteadiness at age 54 years. Family history was negative. Symptoms were slowly progressive, but after 3 years (without neuroleptic exposure) blepharospasm developed and after 1 year involuntary movements of the jaw, lower face and neck developed. Examination at age 58 years showed blepharospasm, gaze-evoked nystagmus, hypermetric saccades, dystonic facial grimacing and tongue protrusion, cerebellar dysarthria, torticollis to the right, gait and appendicular ataxia, hyper-reflexia and extensor plantar responses.
Cases 2 and 3
At age 24 years, this now 50-year-old woman developed posturing and jerky movements of her right shoulder. She subsequently developed unsteadiness of gait, episodic dizziness and slurred speech. Currently, examination reveals mild limitation of upgaze, jerky pursuit, hypometric saccades, slow tongue movements, marked cerebellar dysarthria, mild limb ataxia, ataxic gait and increased tone in all limbs but no pyramidal signs. She …