Late-onset oro-facial dyskinesia in Spinocerebellar Ataxia type 2: a case report

• Published in: BMC neurology Vol. 20; no. 1; p. 156
• Main Authors: Giardina, Floriana, Lanza, Giuseppe, Calì, Francesco, Ferri, Raffaele
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 27.04.2020; BioMed Central; BMC
• Subjects: Adenine; Amyotrophic lateral sclerosis; Antidepressants; Antipsychotic agents; Antipsychotics; Ataxia; Ataxin; Atrophy; Attention; Basal ganglia; Brain diseases; Case Report; Case reports; Caudate nucleus; Central nervous system diseases; Cerebellum; Cerebrovascular diseases; Cognitive ability; Cytosine; Development and progression; Diagnosis; Dopamine; Dopamine receptors; Dopamine transporter; Drugs; Dyskinesia; Family medical history; Genetic aspects; Genetic screening; Geriatrics; Guanine; Huntingtons disease; Magnetic resonance imaging; Motor neurone disease; Movement disorders; Neuroimaging; Oro-facial dyskinesia; Parkinson disease; Patients; Polyglutamine; Pyrimidines; Spinocerebellar ataxia; Spinocerebellar ataxias; Tongue; Oro-facial dyskinesia; Spinocerebellar ataxia; Movement disorders
• ISSN: 1471-2377; 1471-2377
• DOI: 10.1186/s12883-020-01739-8

Genetic familiar causes of oro-facial dyskinesia are usually restricted to Huntington's disease, whereas other causes are often missed or underestimated. Here, we report the case of late-onset oro-facial dyskinesia in an elderly patient with a genetic diagnosis of Spinocerebellar Ataxia type 2 (SCA2). A 75-year-old man complained of progressive balance difficulty since the age of 60 years, associated with involuntary movements of the mouth and tongue over the last 3 months. No exposure to anti-dopaminergic agents, other neuroleptics, antidepressants, or other drugs was reported. Family history was positive for SCA2 (brother and the son of the brother). At rest, involuntary movements of the mouth and tongue were noted; they appeared partially suppressible and became more evident during stress and voluntary movements. Cognitive examination revealed frontal-executive dysfunction, memory impairment, and attention deficit. Brain magnetic resonance imaging (MRI) disclosed signs of posterior periventricular chronic cerebrovascular disease and a marked ponto-cerebellar atrophy, as confirmed by volumetric MRI analysis. A dopamine transporter imaging scan demonstrated a bilaterally reduced putamen and caudate nucleus uptake. Ataxin-2 (ATXN2) gene analysis revealed a 36 cytosine-adenine-guanine (CAG) repeat expansion, confirming the diagnosis of SCA2. SCA2 should be considered among the possible causes of adult-onset oro-facial dyskinesia, especially when the family history suggests an inherited cerebellar disorder. Additional clinical features, including parkinsonism and motor neuron disease, may represent relevant cues for an early diagnosis and adequate management.