Chew Nee K, Mir Pablo, Edwards Mark J, Cordivari Carla, Martino Davide, Schneider Susanne A, Kim Hee-Tae, Quinn Niall P, Bhatia Kailash P
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom.
Mov Disord. 2008 Jan;23(1):107-13. doi: 10.1002/mds.21812.
We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.
我们报告了8例经基因证实的泛发性进行性肌阵挛性癫痫(ULD)病例,旨在重新评估基因特征明确的患者中ULD的临床特征和自然病史。这8例患者首次出现症状的平均年龄为10.6岁(范围:6 - 14岁)。主要临床特征为动作性肌阵挛、小脑共济失调、癫痫发作和轻度智力障碍。我们报告了ULD的三个新临床特征:眼球运动失用、肌张力障碍和快速进展性痴呆。所有患者都需要至少四种抗肌阵挛药物联合使用,但尽管如此,所有患者均因动作性肌阵挛而严重致残。在疾病平均持续29.9年(范围:21 - 37年)后,4例患者借助辅助器具行走,另外4例则需轮椅代步。与ULD相关的临床表型比之前认识到的更多样化,尽管长期功能结局和生存率有所改善,但抗肌阵挛药物的总体疗效仍不尽人意。