Dystonia in Patients With Spinocerebellar Ataxia Type 2

Abstract

Dystonia has been described in various genetically proven spinocerebellar ataxias (SCAs), most often in SCA3, SCA17, and SCA2 patients. In this report, we describe different types of dystonia observed in 5 of our 11 SCA2 patients. All our patients had cranial and/or cervical dystonia with focal or segmental distribution. Except for 1 case with isolated cervical dystonia, all other patients had lower cranial affection of variable severity. Although it is difficult to describe ataxia‐dystonia syndrome that would be highly characteristic for SCA2, we suggest that occurrence of dystonia in a patient with slowly evolving cerebellar disease should, besides SCA3 and SCA17, also suggest SCA2 testing. In patients with lower cranial dystonia, especially jaw and tongue dystonia, SCA2 should be considered during the diagnostic workup.

Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression

“…Also the expression dysregulation of Ano3 and Gnal , two disease genes responsible for dystonia and tremor, may be caused within the same sensory pathway. In this context, it is important to consider that SCA2 mutations always trigger intention tremor and may have a clinical presentation mainly with tremor or dystonia [32, 50, 92, 116]. At late stage, the strongest upregulation among all transcripts concerned the Substance-P interactor Gpnmb , which can be strongly induced in microglia cells by lysosomal stress and exerts a neuroprotective role in TDP43 pathology.…”

Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia

“… 2 The prevalence of dystonia in SCA2 ranges from 14% to 18.1% but is as high as 61% in some reports. 3 – 5 Jaw‐opening dystonia has been reported in SCA2 patients, 6 but only one case of lingual‐protrusion dystonia is described in SCA2. That patient had a 27‐year history of cerebellar symptoms and was already wheelchair‐bound when she developed jaw‐opening and lingual‐protrusion dystonia.…”

“…That patient had a 27‐year history of cerebellar symptoms and was already wheelchair‐bound when she developed jaw‐opening and lingual‐protrusion dystonia. 3 …”

Wissenswertes zu Dystonien

“…Erwähnenswert ist, dass eine fokale Fuß oder Armdystonie in seltenen Fällen auch die Erstmanifestation einer spinozerebellären Ataxie (v. a. SCA 2,7,17) sein kann [13,20]. In unklaren Fällen wird eine Vorstellung beim Spezialisten empfohlen.…”