Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E, Reches A, Bembi B, Zimran A
Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center, Jerusalem, Israel.
QJM. 1996 Sep;89(9):691-4. doi: 10.1093/qjmed/89.9.691.
Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological involvement. Type I has hitherto been considered non-neuronopathic. We present six cases and a review of the literature of Parkinsonian symptoms in type I Gaucher disease patients. The hallmark of this atypical Parkinsonian syndrome is a relatively severe clinical course with early appearance of neurological signs in the 4th to 6th decade of life, aggressive progression of the signs and refractoriness to conventional anti-Parkinson therapy. We discuss the implications of these findings in the light of enzyme replacement therapy for Gaucher disease.
戈谢病是最常见的糖脂贮积症，传统上根据是否存在神经系统受累分为不同类型。迄今为止，I型一直被认为是非神经病变型。我们报告了6例I型戈谢病患者出现帕金森症状的病例，并对相关文献进行了综述。这种非典型帕金森综合征的特点是临床病程相对严重，在40至60岁时早期出现神经体征，体征进展迅速，对传统抗帕金森治疗无效。我们根据戈谢病的酶替代疗法来讨论这些发现的意义。
