• Journal of Pharmacopuncture
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• v.20 no.1
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• pp.57-60
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• 2017

Objectives: Studies involving patients with spinobulbar muscular atrophy (SBMA), which is often referred to as Kennedy's disease, similar to those involving patients with progressive muscular disease (PMD), are rare. This paper reports a case study involving the use of Korean medicine to treat a patient with SBMA. Methods: We treated a patient with SBMA with unique symptoms by using various kinds of pharmacopuncture and herbal medicines for about two and a half years. After the treatment had ended, we evaluated the patient's conditions and the side effects of the treatment. Results: After treatment, the patient's symptoms were stabilized, and the patient suffered no abnormalities or side effects. No special changes in condition were noted during treatment period, and the patient was very satisfied with his response to treatment. Conclusion: Existing treatments have some considerable after effects and are difficult to apply in domestic clinics. In this regard, our findings should open possibilities for new clinical guidelines. Nevertheless, the limitations associated with this case study should be resolved, and more studies need to be conducted.

• Annals of Clinical Neurophysiology
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• v.17 no.1
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• pp.1-16
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• 2015

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is characterized by progressive death of motor neurons in the cortex, brainstem, and spinal cord. Until now, many treatment strategies have been tested in ALS, but so far only Riluzole has shown efficacy of slightly slowing disease progression. The pathophysiological mechanisms underlying ALS are multifactorial, with a complex interaction between genetic factors and molecular pathways. Other motor neuron disease such as spinal muscular atrophy (SMA) and spinobulbar muscular atrophy (SBMA) are also progressive neurodegenerative disease with loss of motor neuron as ALS. This common thread of motor neuron loss has provided a target for the development of therapies for these motor neuron diseases. A better understanding of these pathogenic mechanisms and the potential pathological relationship between the various cellular processes have suggested novel therapeutic approaches, including stem cell and genetics-based strategies, providing hope for feasible treatment of ALS.

• Annals of Clinical Neurophysiology
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• v.12 no.2
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• pp.70-72
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• 2010

We report a 53-year-old male having Kennedy disease who complained of severe bilateral tinnitus and autophony. He was diagnosed as patulous Eustachian tube based on the observation of fluttering motion of the tympanic membrane associated with respiration, which is presumed to occur secondary to bulbar weakness. The patulous Eustachian tube affected the management of his respiratory problem by impairing his ability to tolerate BiPAP. We report this rare condition with a literature review.

• Journal of Microbiology and Biotechnology
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• v.8 no.6
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• pp.663-668
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• 1998

Several neurodegenerative diseases such as Huntington's disease, dentatorubralpallidoluysian atrophy, spinobulbar muscular atrophy, Machado-Joseph disease, and spinocerebellar ataxias type 1 are associated with the aggregation of expanded glutamine repeats within their proteins. Generally, in clinically affected individuals, the expansion of the polyglutamine sequences is beyond 40 residues. To address the length of polyglutamine that forms aggregation, we have constructed plasmids encoding glutathione S-transferase (GST) Machado-Joseph disease gene fusion proteins containing polyglutamine and investigated the formation of aggregates in E. coli. Surprisingly, even $(Gin)_8$, in the normal range as well as $(Gin)_{65}$ in the pathogenic range enhanced the formation of insoluble protein aggregates, whereas $(Ser)_8$, and $(Aia)_8$, did not form aggregates. Our results indicate that the formation of protein aggregates in GST-polyglutamine proteins is specifically mediated by the polyglutamine repeat sequence within their protein structure. Our study may contribute to the understanding of the molecular mechanism of the formation of protein aggregates in neurodegenerative disorders and the development of preventative strategies.