The electrophysiology of spinocerebellar ataxias

Liang, Lipin; Chen, Tao; Wu, Yan

doi:10.1016/j.neucli.2015.12.006

Cited by 22 publications

(19 citation statements)

References 25 publications

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“…Several studies have reported the presence of autonomic dysfunction in patients with symptomatic SCA1, SCA2, and SCA3 who may be able to reduce parasympathetic activity . In addition, the lower motor neuron degeneration, which is described in SCA1,SCA2, and SCA3, but not in SCA6, may have an influence on BMI decline . In amyotrophic lateral sclerosis, lower BMI might be caused by hypermetabolism .…”

Section: Discussionmentioning

confidence: 99%

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Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Diallo

Jacobi

Schmitz‐Hübsch

et al. 2017

Movement Disord Clin Pract

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Background Spinocerebellar ataxias (SCAs) are dominantly inherited, progressive ataxia disorders. Disease progression could be preceded by weight loss. Objectives We aimed to study the course of weight loss in patients who had the most common SCAs (SCA1, SCA2 SCA3, and SCA6). Additional objectives were to identify subgroups of weight evolution, to determine the factors influencing these evolutions, and to assess the impact of these evolutions on disease progression. Methods In total, 384 patients from the EUROSCA prospective cohort study were analyzed who had SCA1, SCA2, SCA3, or SCA6 and at least 3 measurements of weight. Age was used as a time scale. Clinical outcomes were body mass index (BMI) and the Scale for the Assessment and Rating Ataxia (SARA), with scores ranging from 0 to 40. We used a linear mixed model to analyze the course of BMI and a latent class mixed model to identify subgroup BMI evolution. Results Overall, BMI declined over time (−0.11 ± 0.03 kg/m2 per decade; P = 0.0009). Three subgroups of BMI evolution were identified: “decreasing BMI” (n = 88; 23%), “increasing BMI” (n = 70; 18%) and “stable BMI” (n = 226; 59%). Patients in the decreasing BMI group were more severely affected at baseline with higher SARA scores and a higher frequency of non‐ataxia signs (especially motor symptoms) compared with those in the other groups. Weight loss was associated with faster disease progression (5.7 ± 0.7 SARA points per decade; P = 0.036). Conclusions The current data have substantial implications for the design of future interventional studies in SCA, as they provide a basis for patient stratification and emphasize the usefulness of BMI as a biomarker for monitoring disease progression.

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Section: Discussionmentioning

confidence: 99%

“…22,23 In addition, the lower motor neuron degeneration, which is described in SCA1,SCA2, and SCA3, but not in SCA6, may have an influence on BMI decline. 24 In amyotrophic lateral sclerosis, lower BMI might be caused by hypermetabolism. 25 It is likely that the same mechanisms are present in patients with SCA1, SCA2, and SCA3.…”

Section: Discussionmentioning

confidence: 99%

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Diallo

Jacobi

Schmitz‐Hübsch

et al. 2017

Movement Disord Clin Pract

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“…Individuals with SCA1, SCA2 or SCA3 usually show signs of clinical sensorimotor or sensory neuropathy, consistent with peripheral nerve involvement. Brainstem dysfunction in the SCAs leads to abnormal visual and brainstem auditory evoked potentials 6, 7 .…”

Section: Clinical and Pathological Changesmentioning

confidence: 99%

Polyglutamine spinocerebellar ataxias — from genes to potential treatments

et al. 2017

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The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and SCA7) are caused by expansion of a glutamine-encoding CAG repeat in the affected gene. These SCAs represent a substantial portion of the polyglutamine neurodegenerative disorders and provide insight into this class of diseases as a whole. Recent years have seen considerable progress in deciphering the clinical, pathological, physiological and molecular aspects of the polyglutamine SCAs, with these advances establishing a solid base from which to pursue potential therapeutic approaches.

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“…Together with neuroimaging studies, electrophysiological examination might be a potential marker of disease progression and subtype identification. Thus, a motor nerve conduction study shows a prolonged distal latency, reduced nerve conduction velocity, and reduced compound muscle action potential (AP) amplitudes in SCA2 patients; a sensory nerve conduction study reveals absent or reduced sensory nerve AP amplitudes and reduced nerve conduction velocity; the needle EMG discovers fasciculations, giant motor unit APs, and reduced requirement; the brainstem auditory evoked potentials (EPs) demonstrate prolonged I to III and III to V interpeak intervals; the motor EPs are characterized by a delay or absence; the somatosensory EPs observe prolonged P40 latencies or absence of P40 wave; the visual EPs have prolonged latencies and reduced amplitudes of P100; and finally, electrooculography reveals the lack of the gaze-evoked nystagmus and dysmetric saccades [111]. The other important oculomotor feature revealed by electrooculography is the severe slowing of horizontal saccades in a horizontal plane which is significantly correlated with the expanded CAG repeats [112], precedes the ataxia onset [113], progresses notably along time [114], and shows a high familiar aggregation leading to its conceptualization as a disease endophenotype marker [115].…”

Section: Ataxiamentioning

confidence: 99%

Molecular Mechanisms and Therapeutics for Spinocerebellar Ataxia Type 2

Egorova

Bezprozvanny

2019

Neurotherapeutics

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The effective therapeutic treatment and the disease-modifying therapy for spinocerebellar ataxia type 2 (SCA2) (a progressive hereditary disease caused by an expansion of polyglutamine in the ataxin-2 protein) is not available yet. At present, only symptomatic treatment and methods of palliative care are prescribed to the patients. Many attempts were made to study the physiological, molecular, and biochemical changes in SCA2 patients and in a variety of the model systems to find new therapeutic targets for SCA2 treatment. A better understanding of the uncovered molecular mechanisms of the disease allowed the scientific community to develop strategies of potential therapy and helped to create some promising therapeutic approaches for SCA2 treatment. Recent progress in this field will be discussed in this review article.

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The electrophysiology of spinocerebellar ataxias

Cited by 22 publications

References 25 publications

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Polyglutamine spinocerebellar ataxias — from genes to potential treatments

Molecular Mechanisms and Therapeutics for Spinocerebellar Ataxia Type 2

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