Dystonia and ataxia progression in spinocerebellar ataxias

Kuo, Pei Hsin; Gan, Shi Rui; Wang, Jie; Lo, Raymond Y.; Figueroa, Karla P.; Tomishon, Darya; Pulst, Stefan M.; Perlman, Susan; Wilmot, George; Gómez, Christopher M.; Schmahmann, Jeremy D.; Paulson, Henry L.; Shakkottai, Vikram G.; Ying, Sarah H.; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael D.; Xia, Guangbin; Subramony, S. H.; Ashizawa, Tetsuo; Kuo, Sheng Han

doi:10.1016/j.parkreldis.2017.10.007

Cited by 44 publications

(35 citation statements)

References 46 publications

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“…Last, the combination of dystonia and ataxia often correlates with disease course or severity. For example, the presence of dystonia was associated with greater severity of ataxia in the spinocerebellar ataxias SCA‐ATXN1, SCA‐ATXN2, and SCA‐ATXN3 . Also, SCA‐ATXN2 and SCA‐ATXN3 patients with dystonia showed greater CAG repeat expansion .…”

Section: Methodsmentioning

confidence: 98%

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

Rossi

Balint

Vernetti

et al. 2018

Movement Disord Clin Pract

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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.

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Section: Methodsmentioning

confidence: 98%

“…For example, the presence of dystonia was associated with greater severity of ataxia in the spinocerebellar ataxias SCA‐ATXN1, SCA‐ATXN2, and SCA‐ATXN3 . Also, SCA‐ATXN2 and SCA‐ATXN3 patients with dystonia showed greater CAG repeat expansion . In contrast, dystonia was associated a slower progression in SCA‐CACNA1A …”

Section: Methodsmentioning

confidence: 98%

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

Rossi

Balint

Vernetti

et al. 2018

Movement Disord Clin Pract

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“…These nonataxic clinical presentations have also been reported to predict clinical progression and prognosis (Kuo et al, 2017;Monte et al, 2017).…”

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confidence: 88%

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

et al. 2019

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Background Spinocerebellar ataxia (SCA) presents with variable clinical presentations in addition to ataxia. The aim of this study was to reappraise the diverse nonataxic clinical characteristics of the five most common SCA subtypes in the Asian population. Methods The clinical presentations of 90 patients with genetically confirmed SCA1, SCA2, SCA3, SCA6, or SCA17 were assessed retrospectively between November 2008 and September 2018 at a tertiary referral center in Taiwan. Results Parkinsonism was the most common nonataxic phenotype (21.1%), with a greater prevalence than Caucasian and other Asian SCA carriers. Patients with parkinsonism feature had fewer CAG repeats in SCA2 (31.0 ± 4.5 vs. 36.9 ± 6.0, p = .03) and SCA3 (65.6 ± 7.9 vs. 70.0 ± 4.2, p = .02) compared to those with pure ataxia presentation. The average age of symptom onset was significantly higher in the parkinsonism group of SCA2 (51.5 ± 8.9 vs. 35.3 ± 12.6 years, p = .007) than those with pure ataxia. Focal or segmental dystonia was identified in 4.4% of SCA patients (n = 2 each SCA2 and SCA3). Nonmotor symptoms, including impaired cognition (6.1% of SCA2 and 8.3% of SCA3 patients) and depression (9.1% of SCA2 and 8.3% of SCA3 patients), were also common nonataxic features in our SCA patients. Conclusions Parkinsonism, dystonia, and cognitive‐psychiatric symptoms are common features in patients with SCA mutations in our population. Our study identifies a different clinical spectrum of SCA1, SCA2, SCA3, SCA6, and SCA17 compared to Caucasians.

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“…Interestingly, there was one patient in our cohort who presented with blepharospasm and oromandibular dystonia recalled that the special dystonia occured 5 years earlier than gait ataxia. Since dystonia was also a common non‐ataxia symptom in SCA3 patients (Kuo et al, ; Moro et al, ), the initial symptom of this patient was defined as dystonia.…”

Section: Discussionmentioning

confidence: 99%

The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3

Shang

et al. 2019

Molec Gen & Gen Med

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Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited form of ataxia that leads to progressive neurodegeneration. The initial symptoms could affect clinical phenotypes in neurodegenerative diseases, such as Parkinson's disease and amyotrophic lateral sclerosis. However, the contribution of initial symptoms to the phenotypes of SCA3 has been scarcely investigated. Methods In the present study, 143 SCA3 patients from China were recruited and divided into two groups of gait‐onset and non‐gait‐onset. For determining the influences of initial symptoms on age at onset (AAO), the severity and progression of ataxia, and the possible factors affecting the initial symptoms, multivariable linear regression, and multivariate logistic regression were performed. Results We found that the frequency of gait‐onset was 87.41%, and the frequency of non‐gait‐onset was 12.59% (diplopia: 7.69%, dysarthria: 4.20%, dystonia: 0.70%). Compared to the non‐gait‐onset group, the gait‐onset group had significantly more severe ataxia ( p = 0.046), while the initial symptoms had no effect on AAO ( p = 0.109) and progression of ataxia ( p = 0.265). We failed to find the existence of any factors affecting initial symptoms. Conclusion These findings collectively suggested that initial symptoms influenced phenotypes in SCA3 and that neurodegeneration in different parts of brain may induce different disease severity in SCA3.

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Dystonia and ataxia progression in spinocerebellar ataxias

Cited by 44 publications

References 46 publications

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

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

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3

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