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題 名 | Charcot-Marie-Tooth Disease Type 1A: A Clinical, Electrophysiological, Pathological, and Genetic Study=Charcot-Marie-Tooth 1A型:臨床、電生理、病理、和基因研究 |
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作 者 | 謝向堯; 郭弘周; 朱俊哲; 林恭平; 黃錦章; | 書刊名 | 長庚醫學 |
卷 期 | 27:4 2004.04[民93.04] |
頁 次 | 頁300-306 |
分類號 | 415.9 |
關鍵詞 | Charcot-Marie-Tooth 1A型; 末梢髓鞘蛋白22; 去髓鞘變化; 洋蔥球狀變化; 分子基因研究; 神經病理學; Charcot-Marie-Tooth type 1A; Peripheral myelin protein 22; Demyelination; Onionbulb; Molecular genetic study; Neuropathology; |
語 文 | 英文(English) |
中文摘要 | 不同的臨床症狀、去髓鞘神經病變的電生狂表現、及病理上洋聰球狀變化都可在Charcot-marie-Tooth 1A型見到。我們報告一家族內3名成員擊Charcot-marie-Tooth 1A型,同時也作基因皆析以確定有PMP22的複製。開始發病通常是不知不覺的,年齡從3歲不等。臨床表現包括遠端允肉無力及萎縮,輕微感覺喪失,肌腱反射減少或消失。雖然電生理檢查均有明顯異常,但臨床嚴重程度差異頗大。患者的神經切片顯示去髓鞘病變和洋蔥球狀變化。臨床表現、電生理檢查、病理變化或基因分析,徐Charcot-marie-Tooth 1A的診斷上均具有相當的重要性。 |
英文摘要 | Various clinical manifestations, electrophysiological findings, and sural nerve biopsies are reported in a Taiwanese family with type 1A Charcot-Marie-Tooth disease (CMT-1A). In addition, molecular genetic studies for duplication of the peripheral myelin protein 22 (PMP22) gene were also performed. There were 3 patients (2 men and 1 woman) with ages at onset ranging from 37 to 44 years. The onset of sypmptoms was insidious, and the neurological manifestations included distal muscle weakness and wasting, mild sensory loss, and hyporeflexia or are flexia. The weverity of clinical manifestations varied from mild to severe, althought with very prominent demyelinating polyneuropathy in electrophysiological studies. The sural nerve biolpsy study revealed demyelination and an onion-bulb appearance. The molecular genetic studies confirmed duplication of the PMP22 gene in chromosome 17p11.2-12. We conclude that the clinical presentations, electrophysiological studies, and pathological studies as well as the molecular genetic anlaysis remain important in the clinical diagnosis of CMT-1A. |
本系統中英文摘要資訊取自各篇刊載內容。