Cervical dystonia associated with spinocerebellar ataxia type 2 successfully treated with levodopa: A case report

Autosomal dominant cerebellar ataxias (ADCAs) are clinically heterogeneous disorders classified according to genetic subtype and collectively known as SCAs. In a few SCAs, movement disorders can be the most frequent extracerebellar sign. The aim of this article is to perform a systematic review of movement disorders frequency and characteristics in ADCAs. This work consisted of a structured search of electronic databases up to January 2013. Publications containing descriptions of ADCA clinical features written in several languages were selected initially based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data on genetically confirmed patients were extracted. Analysis of individual patient data from subjects with movement disorders was performed using the chi-square test and logistic regression. One thousand and sixty-six publications reviewing 12,151 patients from 30 different SCAs were analyzed. Individual data were available from 755 patients with at least one type of movement disorder during overall disease course. Of 422 patients in whom onset symptom data were available, one third referred a movement disorder as the initial symptom. During overall disease course, parkinsonism was common in many SCA subtypes, frequently described in the absence of ataxia and characterized as responding to dopaminergic medications. Motor complications developed occasionally in some patients as did nigrostriatal imaging alterations. Other frequent features were dystonia, chorea, and myoclonus. Rare conditions, such as akathisia, paroxysmal nonkinesigenic dyskinesia, or stiff person-like syndrome, were also reported. ADCA descriptions included a full range of movement disorders. Aside from postural or intention tremor, dopamine-responsive parkinsonism and dystonia were the most common.

Section: Discussionmentioning

confidence: 99%

“…In a few cases, DRT was tried, usually with partial response; seldom were responses marked. [23][24][25] The most effective therapy was BoT, but, surprisingly, its use was rarely reported. 26,27 Chorea was frequently associated with SCA17, SCA27, and DRPLA, and, in several cases, phenotype was indistinguishable from HD.…”

Section: Discussionmentioning

confidence: 99%

Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review

Rossi

Pérez-Lloret

Cerquetti

et al. 2014

“…It is important to emphasize that botulinum toxin use can be dangerous in the treatment of cervical or oromandibular dystonia in patients with spinocerebellar ataxias; this is because dysphagia is very common in this group of neurodegenerative diseases . In some of the genetic dystonia‐ataxia syndromes, including SCA‐ATXN2, SCA‐ATXN3, and ataxia‐telangiectasia, dystonic features can show a marked response to levodopa and illustrate the rationale of a trial with this drug . Indeed, dopamine replacement therapy was established in 16 of 140 (11%) patients with spinocerebellar ataxia, with a partial response in 75% of the cases .…”

Section: Methodsmentioning

confidence: 99%

Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

Rossi

Balint

Vernetti

et al. 2018

Background Dystonia and ataxia are manifestations of numerous disorders, and indeed, an ever‐expanding spectrum of genes causing diseases that encompass dystonia and ataxia are discovered with the advances of genetic techniques. In recent years, a pathophysiological link between both clinical features and the role of the cerebellum in the genesis of dystonia, in some cases, has been proposed. In clinical practice, the genetic diagnosis of dystonia‐ataxia syndromes is a major issue for genetic counseling, prognosis and, occasionally, specific treatment. Methods For this pragmatic and educational review, we conducted a comprehensive and structured literature search in Pubmed, OMIM, and GeneReviews using the key words “dystonia” and “ataxia” to identify those genetic diseases that may combine dystonia with ataxia. Results There are a plethora of genetic diseases causing dystonia and ataxia. We propose a series of clinico‐radiological algorithms to guide their differential diagnosis depending on the age of onset, additional neurological or systemic features, and imaging findings. We suggest a sequential diagnostic approach to dystonia‐ataxia syndromes. We briefly highlight the pathophysiological links between dystonia and ataxia and conclude with a review of specific treatment implications. Conclusions The clinical approach presented in this review is intended to improve the diagnostic success of clinicians when faced with patients with dystonia‐ataxia syndromes.

“…Treatment with botulinum toxin was very successful in 2 of the treated patients. Interestingly enough, dystonia in SCA2 may, at least transiently, respond to l ‐dopa . Although 1 of our patients developed rest tremor (case 1) and parkinsonism was described in SCA 2 patients, we believe that this tremor was probably the result of damage to cerebellar outflow pathways.…”

Section: Discussionmentioning

confidence: 99%

Dystonia in Patients With Spinocerebellar Ataxia Type 2

Marković

Dragašević-Mišković

Stanković

et al. 2015

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.