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      Occupational therapy in spinocerebellar ataxia type 3: an open-label trial

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          Abstract

          Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT is part of the clinical rehabilitation of progressive genetic neurodegenerative diseases such as spinocerebellar ataxias; however, its effects have never been determined in these diseases. Our aim was to investigate the effect of OT on both physical disabilities and depressive symptoms of spinocerebellar ataxia type 3 (SCA3) patients. Genomically diagnosed SCA3 patients older than 18 years were invited to participate in the study. Disability, as evaluated by functional independence measurement and Barthel incapacitation score, Hamilton Rating Scale for Depression, and World Health Organization Quality of Life questionnaire (WHOQOL-BREF), was determined at baseline and after 3 and 6 months of treatment. Twenty-six patients agreed to participate in the study. All were treated because OT prevents blinding of a control group. Fifteen sessions of rehabilitative OT were applied over a period of 6 months. Difficult access to food, clothing, personal hygiene, and leisure were some of the main disabilities focused by these patients. After this treatment, disability scores and quality of life were stable, and the Hamilton scores for depression improved. Since no medication was started up to 6 months before or during OT, this improvement was related to our intervention. No association was found between these endpoints and a CAG tract of the MJD1 gene (CAGn), age, age of onset, or neurological scores at baseline (Spearman test). Although the possibly temporary stabilization of the downhill disabilities as an effect of OT remains to be established, its clear effect on depressive symptoms confirms the recommendation of OT to any patient with SCA3 or spinocerebellar ataxia.

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          Most cited references26

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          Use of fluoxetine for treatment of Machado-Joseph disease: an open-label study.

          Machado-Joseph Disease (MJD/SCA3) is an autosomal dominant spinocerebellar degeneration that evolves to disability and death. Experimental data have shown that serotonin is an important cerebellar neurotransmitter and that impairment of the serotoninergic cerebellar system can induce cerebellar ataxia. To evaluate the efficacy of fluoxetine, a serotonin reuptake inhibitor, in treating neurologic dysfunction in patients with MJD. Thirteen MJD patients were treated with fluoxetine (20 mg/day) and were followed-up for 6 weeks. Outcome measures included functional capacity, standardized neurologic and cognitive ratings. The Montgomery-Asberg depression rating scale was used to control depressive symptoms. There was no significant improvement in motor abilities after 6 weeks of treatment. These results suggest that fluoxetine has no benefit in motor function of patients with MJD/SCA3.
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            Linear high intensity area along the medial margin of the internal segment of the globus pallidus in Machado-Joseph disease patients.

            Our new finding on magnetic resonance imaging (MRI) of Machado-Joseph disease (MJD) patients indicates degeneration of the lenticular fasciculus (LF), a major outflow of the internal segment of the globus pallidus (GPi). We examined the clinical, radiological, and autopsy findings of one MJD patient and then retrospectively reviewed the MRI images of another 15 patients looking for a similar abnormal signal intensity. The significance of the clinicoradiological correlation of the MRI finding was confirmed by examining the MRI images of 130 control subjects. In the autopsy case, abnormal linear high intensity areas were observed along the bilateral medial margins of the internal segments of the GPi on T2 weighted, FLAIR, and proton density images, but not on T1 weighted images. Pathologically, this abnormal signal intensity was consistent with degeneration of the LF. The same finding was also observed in the other 15 patients. In two patients the finding was only unilaterally observed. No control subject showed this MRI finding. In MJD patients, abnormal linear high intensity areas indicating LF degeneration are usually observed along the medial margin of the GPi on T2 weighted, FLAIR, and proton density sequences. To our knowledge, this MRI finding has not previously been described.
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              Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds

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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                bjmbr
                Brazilian Journal of Medical and Biological Research
                Braz J Med Biol Res
                Associação Brasileira de Divulgação Científica (Ribeirão Preto )
                1414-431X
                June 2010
                : 43
                : 6
                : 537-542
                Affiliations
                [1 ] Universidade Federal do Rio Grande do Sul Brazil
                [2 ] Universidade Federal do Rio Grande do Sul Brazil
                [3 ] Universidade Federal do Rio Grande do Sul Brazil
                [4 ] Universidade Federal do Rio Grande do Sul Brazil
                [5 ] Universidade Federal do Rio Grande do Sul Brazil
                Article
                S0100-879X2010000600003
                10.1590/S0100-879X2010000600003
                efc14357-433b-4e40-a3a1-dca4a4274695

                http://creativecommons.org/licenses/by/4.0/

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                SciELO Brazil

                Self URI (journal page): http://www.scielo.br/scielo.php?script=sci_serial&pid=0100-879X&lng=en
                Categories
                BIOLOGY
                MEDICINE, RESEARCH & EXPERIMENTAL

                Medicine,General life sciences
                Spinocerebellar ataxia 3,Occupational therapy,Rehabilitation,Depression,Machado-Joseph disease,Polyglutamine diseases

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