Impact of disease duration on functional status of patients with spinocerebellar ataxia type 2

Amarante, Thiago R. Padilha; Takeda, Sibele Yoko Mattozo; Teive, Hélio A.G.; Zonta, Marise Bueno

doi:10.1590/0004-282x20170146

Cited by 9 publications

(11 citation statements)

References 18 publications

(8 reference statements)

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“…In a study of 16 individuals with SCA2, Amarante et al 29 described how balance, fall risk and ataxia severity evolved over one year of disease. In our study, we found that for every year of disease there was a 1.62-point decrease in the "physical functioning" score, reflecting an increase in disease severity, functional dependence and fall risk.…”

Section: Resultsmentioning

confidence: 99%

Quality of life in individuals with spinocerebellar ataxia type 10: a preliminary study

Santos

Teive

Neto

et al. 2018

Arq. Neuro-Psiquiatr.

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Section: Resultsmentioning

confidence: 99%

Quality of life in individuals with spinocerebellar ataxia type 10: a preliminary study

Santos

Teive

Neto

et al. 2018

Arq. Neuro-Psiquiatr.

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“…Ataxin-2 is a 140-kDa cytoplasmic protein, product of the ATXN2 gene, localized at the rough endoplasmic reticulum. The abnormal ataxin-2 produces a cytosolic protein that is implicated in cytoplasmic RNA-related functions and results in abnormal aggregation, oxidative stress, disturbed cell signaling, dysregulation of calcium homeostasis, abnormal autophagy, and impaired DNA processing, all presumed to be involved in SCA2 molecular pathogenesis (Amarante et al, 2017).…”

Section: Spinocerebellar Ataxia Typementioning

confidence: 99%

Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review

2020

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Spinocerebellar ataxia (SCA) is a part of the cerebellar neurodegenerative disease group that is diverse in genetics and phenotypes. It usually shows autosomal dominant inheritance. SCAs, always together with the cerebellar degeneration, may exhibit clinical deficits in brainstem or eye, especially retina or optic nerve. Interestingly, autosomal dominant SCAs share a common genetic mechanism; the length of the glutamine chain is abnormally expanded due to the increase in the cytosine-adenine-guanine (CAG) repeats of the disease causing gene. Studies have suggested that the mutant ataxin induces alteration of protein conformation and abnormal aggregation resulting in nuclear inclusions, and causes cellular loss of photoreceptors through a toxic effect. As a result, these pathologic changes induce a downregulation of genes involved in the phototransduction, development, and differentiation of photoreceptors such as CRX, one of the photoreceptor transcription factors. However, the exact mechanism of neuronal degeneration by mutant ataxin restricted to only certain type of neuronal cell including cerebellar Purkinje neurons and photoreceptor is still unclear. The most common SCAs are types 1, 2, 3, 6, 7, and 17 which contain about 80% of autosomal dominant SCA cases. Various aspects of eye movement abnormalities are evident depending on the degree of cerebellar and brainstem degeneration in SCAs. In addition, certain types of SCAs such as SCA7 are characterized by both cerebellar ataxia and visual loss mainly due to retinal degeneration. The severity of the retinopathy can vary from occult macular photoreceptor disruption to extensive retinal atrophy and is correlated with the number of CAG repeats. The value of using optical coherence tomography in conjunction with electrodiagnostic and genetic testing is emphasized as the combination of these tests can provide critical information regarding the etiology, morphological evaluation, and functional significances. Therefore, ophthalmologists need to recognize and differentiate SCAs in order to properly diagnose and evaluate the disease. In this review, we have described and discussed SCAs showing ophthalmic abnormalities with particular attention to their ophthalmic features, neurodegenerative mechanisms, genetics, and future perspectives.

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“…Other commonly described signs and symptoms are cognitive impairment, peripheral neuropathy with fasciculation, and sleep disorders [5][6][7] . Longer disease duration is associated with greater balance impairment, functional dependence, and ataxia severity in subjects with SCA2 8 .…”

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confidence: 97%

Assessment of ventilatory function in patients with spinocerebellar ataxia type 2

Mello

Zonta

Teive

et al. 2020

Arq. Neuro-Psiquiatr.

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Subclinical ventilatory dysfunction is observed in individuals with spinocerebellar ataxias (SCA). No studies have correlated ventilatory dysfunction to clinical and functional decline in SCA2. Objective: To evaluate the relationship between the values of peak expiratory flow (PEF), maximum inspiratory pressure (MIP), and presence of respiratory complaints with age, disease duration, age at onset of symptoms, balance scores, independence in basic (ADL) and instrumental (IADL) Activities of Daily Living (ADLs), and severity of ataxia (SARA) in individuals with SCA2. Methods: Cross-sectional study evaluating age, disease duration, age at onset of symptoms, scores in the Berg Balance Scale and in the SARA, Functional Independence Measure and Lawton’s scale, values of PEF and MIP, and the presence of respiratory complaints. Results: The study included 36 individuals with SCA2, with a mean age of 42.5±2.4 years, disease duration of 7.6±8.2 years, age 33.7±11.5 years at onset of symptoms, and 9.9±10.3 points in the SARA scale. The lowest PEF values correlated with the longer disease duration (p=0.021). The lowest values of PEF and MIP correlated with greater balance impairment (p=0.019 and p=0.045, respectively), increased degree of dependence in the ADL (p=0.006 and p=0.050, respectively) and IADL (p=0.003 and p=0.001, respectively) scales, and highest severity of ataxia (p=0.00 and p=0.017, respectively). Respiratory complaints were observed in 12 (33.3%) individuals and were not related to age, disease duration, age at onset of symptoms, balance, independence, ataxia severity, or PEF and MIP values. Conclusion: Ventilatory dysfunction, even when asymptomatic, is related to balance impairment, independence, and ataxia severity in individuals with SCA2.

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Impact of disease duration on functional status of patients with spinocerebellar ataxia type 2

Cited by 9 publications

References 18 publications

Quality of life in individuals with spinocerebellar ataxia type 10: a preliminary study

Quality of life in individuals with spinocerebellar ataxia type 10: a preliminary study

Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review

Assessment of ventilatory function in patients with spinocerebellar ataxia type 2

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