Facial grimacing and clinical correlates in spinocerebellar ataxia type 3

Abstract

IntroductionSpinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common spinocerebellar ataxia (SCA) worldwide. SCA3 presents with cerebellar ataxia in association with pyramidal signs, peripheral amyotrophy, nystagmus, ophthalmoparesis, fasciculations of the face and tongue, dystonia and parkinsonism. Oromandibular dystonia (OMD) with facial grimacing (FG) in SCA3 has seldom been reported in the literature and in series of SCA3 patients. MethodsWe evaluated 104 patients with SCA (59 patients with SCA3, 20 with SCA2, 20 with SCA7 and 5 with SCA6) and assessed dystonia frequency and types. ResultsThirteen cases of SCA3, one of SCA2 and two of SCA7 had dystonia. OMD in the form of FG was present in seven SCA3 patients (11.9%). Patients with FG were significantly younger, had earlier disease onset and a significantly higher CAG repetition length when compared to the SCA3 sample. Parkinsonism, dysphagia and pyramidal signs were significantly more frequent in the FG group than the non-FG group of the SCA3 sample. ConclusionPatients with SCA3 presenting with FG are younger, with earlier disease onset and higher CAG repetition length. They present with parkinsonism, dysphagia and pyramidal signs more frequently than SCA3 patients without FG.