Non-ataxia signs in Brazilian individuals with spinocerebellar ataxia type 3

نویسندگان

چکیده

Abstract Introduction: Spinocerebellar ataxia 3 (SCA3) is a hereditary disease associated with progressive cerebellar and extracerebellar degeneration. Although there no effective therapy for SCA3, some of its symptoms can be relieved symptomatic treatment. Identifying the presence this signs in patients may contribute to their clinical management thus improve quality life. Objective: To identify frequency non-ataxia sample Brazilian individuals SCA3 investigate association severity duration disease. Methods: This cross-sectional study. The inclusion criteria study were participants should diagnosed between 18 70 years old. exclusion score less than points on Mini Mental State Examination (MMSE) those other neurological or orthopedic problems. Twenty-three evaluated by Inventory Non-ataxia Signs (INAS) Scale Assessment Rating Ataxia (SARA). Results: median found INAS was [median (min-max)] (0-6) 10 (2-23) SARA. Only one participant did not show non-ataxic signs. most prevalent manifestations areflexia, urinary dysfunction, hyperreflexia spasticity. Spearman correlation test indicated moderate significant SARA scores (rho = 0.428, 95% CI 0.39-0.704, p 0.033). There 0.003, -0.398-0.704, 0.393). Conclusion: Areflexia, spasticity We identified severity. findings help professionals dealing these patients.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Machado-Joseph disease/spinocerebellar ataxia type 3.

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion of present, and possible future, treatment for this currently incurable disorder. Like many other dominantly inher...

متن کامل

Spinocerebellar ataxia type 6.

We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely ava...

متن کامل

5 Spinocerebellar Ataxia Type 2

The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections. The degenerative process may additionally involves the pontomedullar systems, pyramidal tracts, basal ganglia, cerebral cortex, peripheral nerves (ADCA I) and the retin...

متن کامل

Pearls & Oy-sters: Spinocerebellar ataxia type 3 presenting with cervical dystonia without ataxia.

1. There is marked heterogeneity in the clinical features of spinocerebellar ataxia type 3 (SCA3). 2. Similar to pure ataxia, pure focal dystonia (torticollis) can be the only presenting symptom of SCA3. 3. High level of vigilance to obtaining family history needs to be maintained in susceptible ethnic backgrounds. 4. Genetic testing should be pursued early in such a group despite atypical pres...

متن کامل

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3.

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (ATX3; MJD1) protein. In biochemical experiments, we demonstrate that mutant ATX3(exp) specifically associated with the type 1 inositol 1,4,5-trisphosphate receptor (InsP(3)R1), an intracellular calcium (Ca(2+)) rel...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Fisioterapia em Movimento

سال: 2021

ISSN: ['0103-5150', '1980-5918']

DOI: https://doi.org/10.1590/fm.2021.34123