Rehabilitation in patients with cerebellar ataxias

Chien, Hsin Fen; Zonta, Marise Bueno; Chen, Janini; Diaferia, Giovana; Viana, Celiana Figueiredo; Teive, Hélio Afonso Ghizoni; Pedroso, José Luiz; Barsottini, Orlando Graziani Póvoas

doi:10.1590/0004-282x-anp-2021-0065

Cited by 4 publications

(2 citation statements)

References 53 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There is no effective treatment and current treatment strategies are based on rehabilitation therapies, including special strength and balance training to increase stability as well as compensatory strategies (25). In the next decade, novel treatments might target in pathogenesis, including mitochondrial dysfunction, impaired DNA repair, by modulation of gene expression, stem cell transplantation, gene transfer, or interventions in viral pathways (26).…”

Section: Discussionmentioning

confidence: 99%

Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1

Dong

Liu

et al. 2022

Front. Neurol.

View full text Add to dashboard Cite

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in an autosomal recessive manner. It is mainly characterized by childhood-onset progressive cerebellar ataxia, with dysarthria and gait disturbance being the two most common and typical manifestations. Axonal sensorimotor peripheral neuropathy, dystonia, chorea, and cognitive impairment are common associated symptoms, as are hypoalbuminemia and hypercholesterolemia. Oculomotor apraxia (OMA)has been reported to be a feature often, although not exclusively, associated with AOA1. The Aprataxin gene, APTX, is ubiquitously expressed, and numerous APTX mutations are associated with different clinical phenotypes have been found. In the present study, we enrolled a 14-year-old boy who developed ataxia with staggering gait from the age of 4 years. Early-onset cerebellar ataxia, peripheral axonal neuropathy, cognitive impairment and hypoalbuminemia, hypercholesterolemia were presented in this patient, except for OMA. We applied ataxia-related genes filtering strategies and whole-exome sequencing (WES) to discover the genetic factors in a Chinese family. Sanger sequencing was used in the co segregation analysis in the family members. A compound heterozygous mutation in APTX gene (c.739C>T and c.501dupG) was identified. This is the first description of a genetically confirmed patient of AOA1 in a Chinese family in addition to a novel mutation of c.501dupG in APTX.

show abstract

Section: Discussionmentioning

confidence: 99%

Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1

Dong

Liu

et al. 2022

Front. Neurol.

View full text Add to dashboard Cite

show abstract

“…Similarly, a systematic review stated balance exercises, coordination training, aerobic exercises like cycling, gait training, range of motion, and strengthening exercises for the extremities or a combination of these exercises for such patients [ 10 ]. These exercises also facilitate motor performance and diminish ataxia symptoms, enabling patients to accomplish personally significant daily goals [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Early Rehabilitation for Cerebellar Complications Following Left Atrial Myxoma Excision: A Stitch in Time Saves Nine

Jain¹,

Harjpal²,

Yadav³

et al. 2022

Cureus

View full text Add to dashboard Cite

The most known of all primary cardiac tumors is myxoma, which is most usually detected in the left atrium. As there are no physical signs or symptoms, a diagnosis is rarely made purely based on clinical evidence. Our study aims to investigate the case of post-operative left atrial myxoma with cerebellar signs. A 50-year-old woman complained of dizziness and syncope, which caused her to collapse on the floor early in the morning. Myxoma in the left atrium and mitral valve regurgitation was discovered after prompt medical assistance. She was recommended for surgery to excise the left atrial myxoma and mitral valve repair. Post the surgery, she developed breathing difficulties and cerebellar signs for which she was referred for physiotherapy. She underwent two weeks of tailor-made inpatient rehabilitation. This case study intends to emphasize the importance of early diagnosis, treatment, and, most importantly, rehabilitation to return the patient to her functional state. A structured exercise regimen assists the patient while also reducing post-surgery problems. Timely monitoring and treatment are projected to improve outcomes in patients treated with a multidisciplinary approach.

show abstract

Effect of Regional Brain Activity Following Repeat Transcranial Magnetic Stimulation in SCA3: A Secondary Analysis of a Randomized Clinical Trial

Liu,

Zhang,

et al. 2024

Cerebellum

View full text Add to dashboard Cite

Rehabilitation in patients with cerebellar ataxias

Cited by 4 publications

References 53 publications

Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1

Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1

Early Rehabilitation for Cerebellar Complications Following Left Atrial Myxoma Excision: A Stitch in Time Saves Nine

Effect of Regional Brain Activity Following Repeat Transcranial Magnetic Stimulation in SCA3: A Secondary Analysis of a Randomized Clinical Trial

Contact Info

Product

Resources

About