• Annals of Clinical Neurophysiology
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• v.24 no.2
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• pp.90-92
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• 2022

AGel amyloidosis is an autosomal dominantly inherited disease caused by a GSN mutation, and affected patients typically present with the clinical triad of corneal lattice dystrophy, progressive cranial neuropathy, and cutis laxa. We report a Korean family with AGel amyloidosis with predominant manifestations of facial and bulbar muscle weakness. Whole-exome sequencing revealed a common missense mutation (p.Asp214Tyr) in GSN. This case strongly suggests that AGel amyloidosis should be considered when a patient presents with progressive facial and bulbar palsies.

• Journal of Acupuncture Research
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• v.34 no.1
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• pp.49-58
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• 2017

Objectives : To introduce a rare case of a patient with Progressive Bulbar Palsy (PBP) and suggest the possibility of treatment using electroacupuncture and Korean Medicine. Methods : A 61-year-old man with PBP, complaining of dysarthria, was treated with electroacupuncture and Korean Medicine, from June 16 to July 10, 2015. Improvements in symptoms were measured using the speech mechanism screening test (SMST), measurement of tongue and orbicularis oris motility, and speech handicap index (SHI). Results : The scores of SMST, motility of tongue and orbicularis oris showed a tendency for gradual improvement with 25 days of Korean Medicine Treatment after admission, but conversation was still impossible. In SHI scores, one point increased in the speech domain and one point decreased in the psycho-social domain, and three points increased in the other domain. Conclusion : Electroacupuncture and Korean Medicine Treatment improved dysarthria caused by PBP, but not completely. Korean Medicine Treatment seems effective in the management of accompanying symptoms such as black hairy tongue, dry mouth, and general condition. The symptoms of PBP are similar to those of amyotrophic lateral sclerosis and there is controversy regarding the classification of PBP. The most important aspect of treating a patient with PBP is an early diagnosis and devising appropriate rehabilitation strategies.

• Annals of Clinical Neurophysiology
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• v.2 no.2
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• pp.107-113
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• 2000

Background & Objectives : Motor evoked potentials(MEPs) to magnetic trans cranial stimulation were performed to evaluate upper motor neuron involvement and relationship to lower motor neuron involvement in motor neuron disease patients. Method : MEPs were obtained in the 17 consecutive patients with motor neuron disease. These patients were divided into three group based on clinical evidence of upper and lower motor neuron involvement, bulbar symptom; amyotrophic lateral sclerosis(ALS), progressive muscular atrophy(PMA), progressive bulbar palsy(PBP). MEPs were recorded from abductor pollicis brevis and abductor hallucis muscles. Abnormal MEPs were defined by delayed central motor conduction time or absent MEP. Results : MEPs were abnormal in 64%(11/17) of patients; 100%(7/7) in ALS, 64%(4/7) in PMA, 0%(0/3) in PBP respectively. In 68 total recording muscles, 34 muscles had evidence of motor weakness and showed abnormal responses in 59%(20/34). Whereas 34 muscles with normal strength, only 3%(1/34) of muscles showed abnormal response. Conclusion : MEPs are well correlated with upper motor neuron signs in ALS and may detect masking upper motor neuron signs in PMA. The muscles with lower motor neuron sign(weakness) usually relate with abnormal MEPs reponses.