Unusual movement disorders in spinocerebellar ataxias

Pedroso, José Luiz; Carvalho, Alzira Alves de Siqueira; Bezerra, Márcio Luiz Escórcio; Braga‐Neto, Pedro; Abrahão, Agessandro; Albuquerque, Marcus Vinicius Cristino; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Cardoso, Francisco; Barsottini, Orlando Graziani Póvoas

doi:10.1016/j.parkreldis.2013.04.012

Cited by 10 publications

(13 citation statements)

References 5 publications

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“…One patient with SCA3 was described presenting with akathisia as the main neurological manifestation, which partially improved with clonazepan . A few patients with postural truncal dystonia, orofacial dyskinesia, and head tremor in SCA2 and gait apraxia in SCA10 were also reported …”

Section: Discussionmentioning

confidence: 99%

“…32,33 Less commonly reported were paroxysmal nonkinesigenic dyskinesia, stiff person-like syndrome, akathisia, myokymia, stuttering, and tics. 32,[34][35][36][37] One SCA27 patient with PNKD differed clinically from patients with myofibrillogenesis regulator 1 gene mutations that frequently cause familial forms of this condition, by the development of mild mental retardation and lack of familial history. 36,38 One patient with SCA3 was described presenting with akathisia as the main neurological manifestation, which partially improved with clonazepan.…”

Section: Discussionmentioning

confidence: 99%

“…37 A few patients with postural truncal dystonia, orofacial dyskinesia, and head tremor in SCA2 and gait apraxia in SCA10 were also reported. 35 The main strengths of this systematic review were that the search was not restricted to a single database or English-language publications, a large population of varied origin from multiple different publications was ascertained, and data extraction was limited to genetically confirmed ADCA patients. The study limitations include that statistical analysis may have been underpowered for rare SCA subtypes with few reported patients.…”

Section: Discussionmentioning

confidence: 99%

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Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review

Rossi

Pérez-Lloret

Cerquetti

et al. 2014

Movement Disord Clin Pract

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review

Rossi

Pérez-Lloret

Cerquetti

et al. 2014

Movement Disord Clin Pract

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“…Almost all types of movement disorders may be observed in SCAs. The most frequent extrapyramidal signs observed in SCA2 include parkinsonism and dystonia . However, there is no report of neonatal‐onset SCA2 presenting with choreic movements and dystonia with dystonic jerks.…”

Section: Discussionmentioning

confidence: 99%

“…The most frequent extrapyramidal signs observed in SCA2 include parkinsonism and dystonia. 1,2,7,8 However, there is no report of neonatal-onset SCA2 presenting with choreic movements and dystonia with dystonic jerks. Di Fabio et al described a 4-month-old girl with SCA2 who presented with spontaneous dyskinetic movements.…”

Section: Discussionmentioning

confidence: 99%