- 作者：Virginia Maria Ginocchio ; Adele D'Amico ; Enrico Bertini ; Ferdin ; o Ceravolo ; Andrea Dardis ; Daniela Verrigni ; Bruno Bembi ; Carlo Dionisi-Vici ; Federica Deodato
- 关键词：NPC ; Niemann&ndash ; Pick disease type C ; CS ; composite score ; BS ; body surface ; LE/L ; late endosomes/lysosomes ; ER ; endoplasmic reticulum
- 刊名：Molecular Genetics and Metabolism
- 出版年：2013
- 出版时间：November, 2013
- 年：2013
- 卷：110
- 期：3
- 页码：329-335
- 全文大小：546 K
We evaluated data from 10 NPC patients treated with Miglustat in a single study centre. All disease manifestations were assessed and patients were stratified according to age at onset of neurological symptoms. Neurological data were recorded by using a modified version of the NP-C disability scale; a ¡°composite score¡± and a ¡°mean annual change¡± were calculated to evaluate disease progression.
We observed a mean annual change of the composite score of 0.04 in our cohort, indicating slower progression of neurological symptoms if compared with the natural history of the disease. The evidence of slower disease evolution in patients treated with Miglustat suits with previous data and here it is also emphasized by the comparison between disease progression in two early-infantile onset patients receiving different Miglustat dosages. Evaluation of the mean annual change for individual subgroups of patients evidenced minor values in juvenile patients, highlighting better response in such class of patients. Among individual neurological parameters, swallowing showed the minor mean annual change (0.02), indicating better response to therapy. We underline the importance of using a standardized disability scale to quantify and compare neurological features and their evolution over time.