Worgall S, Kekatpure M V, Heier L, Ballon D, Dyke J P, Shungu D, Mao X, Kosofsky B, Kaplitt M G, Souweidane M M, Sondhi D, Hackett N R, Hollmann C, Crystal R G
Department of Genetic Medicine, Weill Medical College of Cornell University, New York, NY 10021, USA.
Neurology. 2007 Aug 7;69(6):521-35. doi: 10.1212/01.wnl.0000267885.47092.40.
Late infantile neuronal ceroid lipofuscinosis (LINCL) is associated with progressive degeneration of the brain and retina starting in early childhood.
Thirty-two individual neurologic, ophthalmologic, and CNS imaging (MRI and MRS) assessments of 18 children with LINCL were analyzed. Disease severity was followed by two rating scales, one previously established but modified to solely assess the brain and exclude the retinal disease (modified Hamburg LINCL scale), and a newly developed scale, with expanded evaluation of the CNS impairment (Weill Cornell LINCL scale).
For the 18 children, the Weill Cornell scale yielded a closer correlation with both age and time since initial clinical manifestation of the disease than did the modified Hamburg scale. There were no significant differences as a function of age or time since initial manifestation of the disease in the rating scales among the most frequent CLN2 mutations (G3556C, 56% of all alleles or C3670T, 22% of all alleles). Measurements of cortical MRS N-acetyl-aspartate content, MRI ventricular, gray matter and white matter volume, and cortical apparent diffusion coefficient correlated to a variable degree with the age of the children and the time since initial clinical manifestation of the disease. All imaging measurements correlated better with the Weill Cornell CNS scale compared to the modified Hamburg LINCL scale.
The data suggest that the Weill Cornell late infantile neuronal ceroid lipofuscinosis (LINCL) scale, together with several of the MRI measurements, may be useful in the assessment of severity and progression of LINCL and for the evaluation of novel therapeutic strategies.
晚期婴儿型神经元蜡样脂褐质沉积症（LINCL）与儿童早期开始的脑和视网膜进行性退变相关。
对18例LINCL患儿进行了32次个体神经学、眼科和中枢神经系统成像（MRI和MRS）评估。采用两种评分量表跟踪疾病严重程度，一种是先前制定但经修改以仅评估脑并排除视网膜疾病的量表（改良汉堡LINCL量表），另一种是新开发的量表，对中枢神经系统损伤进行了扩展评估（威尔康奈尔LINCL量表）。
对于这18例患儿，与改良汉堡量表相比，威尔康奈尔量表与年龄以及自疾病首次临床表现以来的时间的相关性更强。在最常见的CLN2突变（G3556C，占所有等位基因的56%或C3670T，占所有等位基因的22%）中，评分量表在疾病首次表现后的年龄或时间方面没有显著差异。皮质MRS N - 乙酰天门冬氨酸含量、MRI脑室、灰质和白质体积以及皮质表观扩散系数的测量值与患儿年龄和自疾病首次临床表现以来的时间在不同程度上相关。与改良汉堡LINCL量表相比，所有成像测量值与威尔康奈尔中枢神经系统量表的相关性更好。
数据表明，威尔康奈尔晚期婴儿型神经元蜡样脂褐质沉积症（LINCL）量表以及一些MRI测量值可能有助于评估LINCL的严重程度和进展情况，并用于评估新的治疗策略。
