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      Is Neuropathy Involved with Restless Legs Syndrome in Machado-Joseph Disease?

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          Objective: To evaluate a group of spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) (SCA3/MJD) patients and assess whether there is an association between neuropathy and serum ferritin levels and restless legs syndrome (RLS). Methods: Twenty-six SCA3/MJD patients underwent electromyography studies to check for neuropathy. Their serum ferritin levels were measured as well. These findings were evaluated based on the presence or not of RLS and its severity. Results: The proportion of neuropathy in the RLS group was not significantly higher compared to the non-RLS group (23 vs. 15%, Fisher’s exact test, p = 1.000). Furthermore, no association was found between RLS and ferritin levels. Conclusion: We found no correlation between neuropathy or ferritin levels and RLS in SCA3/MJD patients.

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          Most cited references 15

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          Caring for Machado-Joseph disease: current understanding and how to help patients.

          Machado-Joseph disease or spinocerebellar ataxia 3 (MJD/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction and movement disorder. MJD/SCA3 is caused by a CAG repeat expansion mutation in the protein coding region of the ATXN3 gene located at chromosome 14q32.1. Current hypotheses regarding pathogenesis favor the view that mutated ataxin-3, with its polyglutamine expansion, is prone to adopt an abnormal conformation, engage in altered protein-protein interactions and aggregate. Expanded CAG repeat length correlates with the range and severity of the clinical manifestations and inversely correlates with age of disease onset. Though MJD/SCA3 is classically described as affecting the cerebellum, brainstem and basal ganglia, recent neuropathology and neuroimaging series demonstrate involvement of other areas such as the thalamus and cerebral cortex. Clinically, much emphasis has been placed in the description and recognition of the non-motor symptoms observed in these patients, such as pain, cramps, fatigue and depression. Currently, no disease modifying treatment exists for MJD/SCA3. Standard of care includes genetic counseling, exercise/physical therapy programs, and speech and swallow evaluation. Symptomatic treatment for clinical findings such as depression, sleep disorders, parkinsonism, dystonia, cramps, and pain is important to improve the quality of life for those with MJD/SCA3.
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            Iron deficiency decreases dopamine D1 and D2 receptors in rat brain

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              Restless legs syndrome in Parkinson's disease and other neurodegenerative diseases of the central nervous system.

              The pathophysiology of restless legs syndrome (RLS) is associated with central dopaminergic system dysfunction leading to speculations that RLS may be common in those neurodegenerative diseases with dopaminergic cell loss. However, since RLS is a very common condition, the co-occurrence with less frequent disorders such as the neurodegenerative diseases might be a matter of chance. Currently, no data suggests that patients with sporadic and familial RLS are at increased risk for developing a neurodegenerative disease. In particular, whether RLS is associated with Parkinson's disease has not been established. Only a few studies have directly addressed this issue, and these have methodological limitations yielding conflicting results. Few studies have assessed the frequency of RLS in other neurodegenerative disorders. In several autosomal dominant spinocerebellar ataxias, particularly in Machado-Joseph disease, a higher frequency of RLS is reported than could be accounted for in the general population. Two anecdotal publications have reported the presence of RLS in patients with Huntington's disease and hereditary spastic paraparesis. There are no studies that have examined the association between RLS and other neurodegenerative diseases, such as Alzheimer's disease, frontotemporal dementia, dementia with Lewy bodies, multiple system atrophy, progressive supranuclear palsy, and corticobasal degeneration. .

                Author and article information

                Eur Neurol
                European Neurology
                S. Karger AG
                October 2011
                20 September 2011
                : 66
                : 4
                : 200-203
                Departments of aNeurology and Neurosurgery and bPreventive Medicine, Universidade Federal de São Paulo, São Paulo, Brazil
                Author notes
                *José L. Pedroso, MD, Rua Botucatu, 740, São Paulo, SP 04023-900 (Brazil), Tel. +55 11 5576 4000, E-Mail
                331008 Eur Neurol 2011;66:200–203
                © 2011 S. Karger AG, Basel

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