This study was done to assess the polysomnographic abnormalities in patients with Spinocerebellar ataxia (SCA1, SCA2 and SCA3) and also to evaluate whether oculomotor abnormalities interfere with sleep stage R scoring.
Twelve patients had neurological findings uncommon in ASD apart from microcephaly, including: oculomotor abnormalities (n = 4), sensorineural hearing deficit (n = 3), dysarthria (n = 3), ptosis (n = 2), movement disorders (n = 2), and hypertonia (n = 1).
Dominant spinocerebellar ataxias (SCA) are heterogeneous neurological diseases with phenotypes consisting of cerebellar ataxia, extrapyramidal signs, dysarthria, oculomotor abnormalities, motor neuron signs, cognitive decline, epilepsy, autonomic dysfunction, sensory deficits, and psychiatric manifestations.
Additionally, ophthalmological disturbances, such as oculomotor abnormalities and visual acuity loss, are often observed [ 5].
Patients with SCA6 have dysarthria, oculomotor abnormalities and an ataxic gait.
In this respect, our findings are similar to previously published descriptions of PSP-associated oculomotor abnormalities.
Different combinations of oculomotor abnormalities were identified in all clinical syndromes except for SD, which had oculomotor performance that was indistinguishable from age-matched controls.
Significant oculomotor abnormalities were identified in all patient groups except for SD, which had oculomotor performance that was indistinguishable from age-matched controls.
In contrast, the presence of oculomotor abnormalities is a core diagnostic feature of PSP (Litvan et al., 1996 a ).
Oculomotor abnormalities were present in all PSP patients except one, but were also noted in 19% of MSA patients.
