Physiologic Alterations in Ataxia
Archives of Neurology, 10/19/2009
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Shakkottai VG et al. – The ataxias constitute a heterogeneous group of diseases in which cerebellar dysfunction typically underlies the major neurologic manifestations. It is increasingly clear that ataxia can result directly from mutations in ion channels ... channel defect. Neuronal dysfunction stemming from perturbed channel activity likely explains some motor deficits in episodic and degenerative ataxias. Understanding these pathophysiologic changes may reveal novel therapeutic targets for symptomatic treatment of ataxia.
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Antioxidants and other pharmacological treatments for Friedreich ataxia
Cochrane Reviews, 10/09/2009
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Kearney M et al. – Recent studies have suggested that a synthetic antioxidant, idebenone, may help the most frequent heart abnormality, enlargement of the left ventricle. Antioxidants occur naturally in foods but do not ... of Friedreich ataxia...A review of the medical literature revealed that there was only one small randomised controlled trial (RCT) with 29 participants which used idebenone for a sufficient period, 12 months. The included RCT showed that idebenone did not help the ataxia but did have a significant ... being considered for Friedreich ataxia include deferiprone, erythropoietin, pioglitazone and histone deacetylase (HDAC) inhibitors but no RCTs have been completed using these treatments (www.curefa.org). A collaborative project using gene therapy in Friedreich ataxia mouse models and human brain ... neurology,clinical pharmacology,movement disorders
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Isolated ataxia after pure left insular cortex infarction
Neurological Sciences, 10/20/2009
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Liou LM et al. – The authors present a case of pure left insular cortex infarction with isolated truncal ataxia and demonstrate a crucial relationship between the left insular cortex and the cerebellar system. The possible connections ... through the spinocerebellar and dentatorubrothalamic pathway. In conclusions, left insular cortex lesions should be considered in the differential diagnosis of isolated truncal ataxia.
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Spinocerebellar ataxia type 11 in the Chinese Han population
Neurological Sciences, 10/07/2009
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Xu Q et al. – To investigate the frequency of SCA11 in Chinese SCA patients, the authors examined the TTBK2 gene in 68 unrelated probands diagnosed with dominantly inherited ataxia using the denaturing high–performance liquid ... method. All analyzed samples displayed the normal elution profile, which denoted that no disease–related mutation was identified. They provided the evidence that SCA11 is a rare form of ataxia in China.
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Spinocerebellar ataxia 8: Variable phenotype and unique pathogenesis
Parkinsonism & Related Disorders, 10/29/2009
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Gupta A et al. – In this review the authors describe 3 new cases of genetically verified SCA8 to highlight the broad clinical spectrum of symptoms observed with this disorder and to draw attention to the features of ... headaches, which in the context of cerebellar ataxia warrants the clinician to consider SCA8 as a potential diagnosis. The authors also address the controversy surrounding the genetic testing approach for diagnosing SCA8. Finally, the authors evaluate the evidence that SCA8 may affect calcium ... episodic ataxia and migraines suggests a clinical and pathogenic overlap of SCA8 with the channelopathies.
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Intensive coordinative training improves motor performance in degenerative cerebellar disease
Neurology, 10/30/2009
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Ilg W et al. – In patients with cerebellar ataxia, coordinative training improves motor performance and reduces ataxia symptoms, enabling them to achieve personally meaningful goals in everyday life. Training effects were more distinct for ... for stabilizing improvements and should become standard of care.
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Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17
Human Molecular Genetics, 10/12/2009
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Shah AG et al. – The findings suggest that the transcriptional down–regulation of TrkA by mutant TBP contributes to SCA17 pathogenesis.
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Lundbeck starts clinical phase IIa with Lu AA24493 in Friedreich's ataxia in a study also assessing efficacy via biomarkers
Lundbeck, 11/03/2009
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H. Lundbeck A/S strengthens its pipeline of pharmaceuticals in clinical development by initiating phase IIa clinical studies with the innovative project Lu AA24493 in order ... efficacy parameters of the drug in humans. Lundbeck expects to enrol 35–40 people suffering from Friedreich's ataxia in this study.
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Outcome of severe unilateral cerebellar hypoplasia
Developmental Medicine & Child Neurology, 10/27/2009
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impairment. Ataxia is a frequent but not a leading sign. It seems that involvement of the cerebellar vermis is often, but not consistently, associated with a poorer cognitive outcome, whereas an intact vermis is associated with normal outcome and no truncal ataxia.
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FUS-Immunoreactive Intranuclear Inclusions in Neurodegenerative Disease
Brain Pathology, 10/16/2009
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s disease, spinocerebellar ataxias 1 and 3, and neuronal intranuclear inclusion body disease. In contrast, there was no FUS staining of NIIs in inherited forms of FTLD–TDP caused by GRN and VCP mutations, fragile–X–associated tremor ataxia syndrome, or oculopharyngeal muscular
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