Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2)

OBJECTIVE: To describe the alterations observed in electronystagmography (ENG) of patients with spinocerebellar ataxia (SCA) types 2 and 3. METHOD: Sixteen patients were studied and the following procedures were carried out: anamnesis, otorhinolaryngological and vestibular evaluations. RESULTS: The clinical findings in the entire group of patients were: gait disturbances (93.75%), dysarthria (43.75%), headache (43.75%), dizziness (37.50%) and dysphagia (37.50%). In the vestibular exam, the rotatory (62.50%) and caloric (75%) tests were among those which presented the largest indexes of abnormalities; the presence of alterations in the exams was 87.50%, with a predominance of central vestibular disorders in 68.75% of the exams. CONCLUSION: Vestibular exams could be an auxiliary tool to investigate SCAs, besides a precise clinical approach and, particularly, molecular genetic tests.

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Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance

Brain ◽

10.1093/brain/awg234 ◽

2003 ◽

Vol 126 (10) ◽

pp. 2257-2272 ◽

Cited By ~ 59

Author(s):

U. Rub

Keyword(s):

Spinocerebellar Ataxia ◽

Clinical Relevance ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 2 ◽

Spinocerebellar Ataxia Type 3 ◽

Sca3 Patient ◽

Type 3

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Clinical Findings of Type 3 Spinocerebellar Ataxia

10.5327/1516-3180.198 ◽

2021 ◽

Author(s):

Juliano Henrique Rocha Filho ◽

Beatriz Brasil Braga ◽

Kristine Leão Alarcão ◽

Maria Teresa Aires Cabral Dias

Keyword(s):

Spinocerebellar Ataxia ◽

Clinical Findings ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxias ◽

Gene Modification ◽

Spinocerebellar Ataxia Type 3 ◽

The Common ◽

Cerebellar Peduncle ◽

Type 3 ◽

Extrapyramidal Motor

Background: Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of progressive autosomal disorders of dominant inheritance with a gradual degeneration of the cerebellum and related pathways [1]. This leads to a movement disorder, loss of balance and coordination, accompanied by slurred speech [2]. Among the approximately 40 types of SCA, the spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most clinically heterogeneous [3]. It involves the cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems [2]. Objectives: Understand the clinical findings of SCA3. Methods: The review was based on papers from SciELO and LILACS databases. Articles presented in full, written in English or Portuguese, were researched. Results: SCA3 is a consequence of the ATXN3 gene modification, which generates pathogenic repeated expansions of trinucleotides CAG, leading to polyglutamine coding. The common clinical phenotype includes the presentation of symptoms such as cerebellar ataxia, ophthalmoplegia, spasticity, basal ganglia symptoms, sensory symptoms, amyotrophy, including facial atrophy and fasciculations [4]. In addition, atrophy of the cerebellar vermis, hemispheres, brainstem and medial cerebellar peduncle are visualized on MRI in the early stages, resulting in an enlargement of the fourth ventricle. Furthermore, changes also occur in the caudate nucleus, putamen and upper cerebellar peduncle [5]. Conclusion: Through data analysis, there is a necessity to know the clinical and pathological characteristics of SCA3. This neurological disorder causes suffering for the patients, since it is a highly debilitating serious condition.

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Mechanisms of vestibulo-ocular reflex (VOR) cancellation in spinocerebellar ataxia type 3 (SCA-3) and episodic ataxia type 2 (EA-2)

Progress in Brain Research - Using Eye Movements as an Experimental Probe of Brain Function - A Symposium in Honor of Jean Büttner-Ennever ◽

10.1016/s0079-6123(08)00674-2 ◽

2008 ◽

pp. 519-525 ◽

Cited By ~ 4

Author(s):

Carlos R. Gordon ◽

Avi Caspi ◽

Ronen Levite ◽

Ari Z. Zivotofsky

Keyword(s):

Spinocerebellar Ataxia ◽

Episodic Ataxia ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 3 ◽

Ocular Reflex ◽

Episodic Ataxia Type 2 ◽

Vestibulo Ocular Reflex ◽

Type 3 ◽

Episodic Ataxia Type

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Mitochondrial impairment in patients with spinocerebellar ataxia type 3

Aktuelle Neurologie ◽

10.1055/s-2004-833082 ◽

2004 ◽

Vol 31 (S 1) ◽

Author(s):

L Schöls ◽

J Andrich ◽

H Przuntek ◽

K Müller ◽

J Zange

Keyword(s):

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 3 ◽

Mitochondrial Impairment ◽

Type 3

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Faculty Opinions recommendation of Oculomotor deficits in spinocerebellar ataxia type 3: Potential biomarkers of preclinical detection and disease progression.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.727305821.793552233 ◽

2018 ◽

Author(s):

Alexandra Durr

Keyword(s):

Disease Progression ◽

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 3 ◽

Type 3 ◽

Potential Biomarkers

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Faculty Opinions recommendation of Caffeic acid and resveratrol ameliorate cellular damage in cell and Drosophila models of spinocerebellar ataxia type 3 through upregulation of Nrf2 pathway.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.732321491.793552234 ◽

2018 ◽

Author(s):

Alexandra Durr

Keyword(s):

Caffeic Acid ◽

Spinocerebellar Ataxia ◽

Cellular Damage ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 3 ◽

Nrf2 Pathway ◽

Type 3 ◽

Drosophila Models

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A fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3

Cell Death and Disease ◽

10.1038/s41419-021-03444-x ◽

2021 ◽

Vol 12 (2) ◽

Author(s):

Zhefan Stephen Chen ◽

Xiaoying Huang ◽

Kevin Talbot ◽

Ho Yin Edwin Chan

Keyword(s):

Spinocerebellar Ataxia ◽

E3 Ligase ◽

Spinocerebellar Ataxia Type ◽

Disease Genes ◽

Spinocerebellar Ataxia Type 3 ◽

E3 Ligases ◽

Protein Ubiquitination ◽

Polyq Protein ◽

Polyq Diseases ◽

Type 3

AbstractPolyglutamine (polyQ) diseases comprise Huntington’s disease and several subtypes of spinocerebellar ataxia, including spinocerebellar ataxia type 3 (SCA3). The genomic expansion of coding CAG trinucleotide sequence in disease genes leads to the production and accumulation of misfolded polyQ domain-containing disease proteins, which cause cellular dysfunction and neuronal death. As one of the principal cellular protein clearance pathways, the activity of the ubiquitin–proteasome system (UPS) is tightly regulated to ensure efficient clearance of damaged and toxic proteins. Emerging evidence demonstrates that UPS plays a crucial role in the pathogenesis of polyQ diseases. Ubiquitin (Ub) E3 ligases catalyze the transfer of a Ub tag to label proteins destined for proteasomal clearance. In this study, we identified an E3 ligase, pre-mRNA processing factor 19 (Prpf19/prp19), that modulates expanded ataxin-3 (ATXN3-polyQ), disease protein of SCA3, induced neurodegeneration in both mammalian and Drosophila disease models. We further showed that Prpf19/prp19 promotes poly-ubiquitination and degradation of mutant ATXN3-polyQ protein. Our data further demonstrated the nuclear localization of Prpf19/prp19 is essential for eliciting its modulatory function towards toxic ATXN3-polyQ protein. Intriguingly, we found that exocyst complex component 7 (Exoc7/exo70), a Prpf19/prp19 interacting partner, modulates expanded ATXN3-polyQ protein levels and toxicity in an opposite manner to Prpf19/prp19. Our data suggest that Exoc7/exo70 exerts its ATXN3-polyQ-modifying effect through regulating the E3 ligase function of Prpf19/prp19. In summary, this study allows us to better define the mechanistic role of Exoc7/exo70-regulated Prpf19/prp19-associated protein ubiquitination pathway in SCA3 pathogenesis.

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