Dystonia in Machado–Joseph disease: Clinical profile, therapy and anatomical basis

Nunes, Marcelo; Martinez, Alberto Rolim Muro; Rezende, Thiago Junqueira Ribeiro de; Friedman, Joseph H.; Lopes‐Cendes, Íscia; D’Abreu, Anelyssa; França, Marcondes C.

doi:10.1016/j.parkreldis.2015.10.016

Cited by 29 publications

(24 citation statements)

References 29 publications

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“…Also, our study confirmed the previous studies that a longer CAG repeat length in SCA3 are more likely to be associated with dystonia [5,11,13]. …”

Section: Discussionsupporting

confidence: 92%

“…Dystonia in SCAs could result from the cerebellar pathology and extra-cerebellar involvement [24–28]. The brain circuitry involved in dystonia has been reported in the cerebellum and its connection to the brainstem, cervical spinal cord, thalamus, and motor cortex [5,24–29]. Alternatively, dystonia might come from the extra-cerebellar regions, including basal ganglia, and the alterations of basal ganglia have been identified in SCAs based on the volumetric magnetic resonance imaging (MRI) studies [5], dopamine transporter scan studies [30], and postmortem pathological examination [31–33].…”

Section: Discussionmentioning

confidence: 99%

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Dystonia and ataxia progression in spinocerebellar ataxias

Kuo

Gan

Wang

et al. 2017

Parkinsonism & Related Disorders

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Background Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known. Objectives To study clinical characteristics and ataxia progression in SCAs with and without dystonia. Methods We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) and compared the clinical characteristics of SCAs with and without dystonia. We repeatedly measured ataxia progression by the Scale for Assessment and Rating of Ataxia every 6 months for 2 years. Regression models were employed to study the association between dystonia and ataxia progression after adjusting for age, sex and pathological CAG repeats. We used logistic regression to analyze the impact of different repeat expansion genes on dystonia in SCAs. Results Dystonia was most commonly observed in SCA3, followed by SCA2, SCA1, and SCA6. Dystonia was associated with longer CAG repeats in SCA3. The CAG repeat number in TBP normal alleles appeared to modify the presence of dystonia in SCA1. The presence of dystonia was associated with higher SARA scores in SCA1, 2, and 3. Although relatively rare in SCA6, the presence of dystonia was associated with slower progression of ataxia. Conclusions The presence of dystonia is associated with greater severity of ataxia in SCA1, 2, and 3, but predictive of a slower progression in SCA6. Complex genetic interactions among repeat expansion genes can lead to diverse clinical symptoms and progression in SCAs.

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“…Also, our study confirmed the previous studies that a longer CAG repeat length in SCA3 are more likely to be associated with dystonia [5,11,13]. …”

Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Dystonia and ataxia progression in spinocerebellar ataxias

Kuo

Gan

Wang

et al. 2017

Parkinsonism & Related Disorders

View full text Add to dashboard Cite

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“…Reviewing the patients’ data, we could not obtain the onset time of dystonic movements. Difficulty which we believe also occurred with other researchers who proposed to perform similar studies, perhaps because the beginning of the dystonic symptoms in patients with SCA3 has not been regularly addressed, or was justified with a clinical heterogeneity of the SCA3, or even an overlap of symptoms [ 4 , 7 , 17 , 18 ].…”

Section: Discussionmentioning

confidence: 92%

“…All these common symptoms, are important clinical information, easily identifiable by health professionals. This set of symptoms should be familiar to physicians, so that the hereditary ataxias are in their repertoire of diagnosis hypotheses [ 18 , 19 ].…”

Section: Discussionmentioning

confidence: 99%

Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis?

Catai¹,

Camargo²,

Moro³

et al. 2018

TONEUJ

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Background:Spinocerebellar Ataxia type 3 (SCA3) or Machado-Joseph Disease (MJD) is characterized by cerebellar, central and peripheral symptoms, including movement disorders. Dystonia can be classified as hereditary and neurodegenerative when present in SCA3.Objective:The objective of this study was to evaluate the dystonia characteristics in patients with MJD.Method:We identified all SCA3 patients with dystonia from the SCA3 HC-UFPR database, between December 2015 and December 2016.Their medical records were reviewed to verify the diagnosis of dystonia and obtain demographic and clinical data. Standardized evaluation was carried out through the classification of Movement Disorders Society of 2013 and Burke Fahn-Marsden scale (BFM).Results:Amongst the presenting some common characteristics, 381 patients with SCA3, 14 (3.7%) subjects presented dystonia: 5 blepharospasm, 1 cervical dystonia, 3 oromandibular, 3 multifocal and 2 generalized dystonia. Regarding dystonia's subtypes, 71.4% had SCA3 subtype I and 28.6% SCA3 subtype II. The average age of the disease onset was 40±10.7 years; the SCA3 disease duration was 11.86± 6.13 years; the CAG repeat lengths ranged from 75 to 78, and the BFM scores ranged from 1.0 to 40. There was no correlation between the dystonia severity and CAG repeat lengths or the SCA3 clinical evolution.Conclusion:Dystonia in SCA3 is frequent and displays highly variable clinical profiles and severity grades. Dystonia is therefore a present symptom in SCA3, which may precede the SCA3 classic symptoms. Dystonia diagnosis is yet to be properly recognized within SCA3 patient.

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“…A 10-year-old boy who presented with generalized dystonia and ataxia was confirmed to have spinocerebellar ataxia type 3. 9 He had a positive ATXN3 gene mutation producing 80 and 23 CAG repeat expansion. 10 The Video (available at www.jpeds.com) shows that blunt stimulus of the sole, following the Babinski method, produced extension of the great toe and fanning of all other toes.…”

mentioning

confidence: 99%

“Striatal Toe Sign”: False-Positive “Extensor Plantar Response” in Dystonia

Ghosh

2017

The Journal of Pediatrics

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Dystonia in Machado–Joseph disease: Clinical profile, therapy and anatomical basis

Cited by 29 publications

References 29 publications

Dystonia and ataxia progression in spinocerebellar ataxias

Dystonia and ataxia progression in spinocerebellar ataxias

Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis?

“Striatal Toe Sign”: False-Positive “Extensor Plantar Response” in Dystonia

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