Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations
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DOI：
10.1212/wnl.0000000000001784
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发表时间：
2015-07-28
期刊：
影响因子：
9.9
通讯作者：
Franceschetti, Silvana
中科院分区：
文献类型：
--
作者：
Canafoglia, Laura;Gilioli, Isabella;Franceschetti, Silvana
目的：描述与CLN 6突变相关的神经元蜡样脂褐质沉积症患者的临床和神经生理学模式。方法：我们回顾了11例不同年龄的患者发病的特点。结果：临床疾病发病发生在第一个十年的生活中的8例，在第二和第三个十年的3。所有患儿均表现为进行性认知功能减退，伴共济失调、锥体束和锥体外系体征。复发性癫痫发作、视力丧失和肌阵挛大多在发病延迟后报告; 7名儿童在发病后4年内被椅子束缚并患有重度痴呆。一个孩子，在8年发病，有一个温和的过程。3例青少年/成人发作的患者表现为典型的进行性肌阵挛性癫痫表型，其中1例患者出现学习障碍。EEG背景是缓慢接近疾病发作的7名儿童，后来表现出严重的衰减，光阵发性反应（PPR）是目前在所有。3例青少年/成人患者的EEG背景正常，PPR较强。视网膜电图的早期衰减仅见于发病年龄小于5.5岁的儿童。体感诱发电位非常扩大，在所有patients.Conclusions：在所有患者中，多灶性肌阵挛痉挛和癫痫发作是一个关键的功能，但肌阵挛癫痫发作是一个早期和突出的迹象，在青少年/成人的形式。相反，儿童期发作的形式的特点是初始和严重的认知功能障碍加上视网膜电图和脑电图衰减。PPR和放大的体感诱发电位显示的皮质过度兴奋是一个普遍的特征。
Objectives:To describe the clinical and neurophysiologic patterns of patients with neuronal ceroid lipofuscinoses associated with CLN6 mutations.Methods:We reviewed the features of 11 patients with different ages at onset.Results:Clinical disease onset occurred within the first decade of life in 8 patients and in the second and third decades in 3. All children presented with progressive cognitive regression associated with ataxia and pyramidal and extrapyramidal signs. Recurrent seizures, visual loss, and myoclonus were mostly reported after a delay from onset; 7 children were chairbound and had severe dementia less than 4 years from onset. One child, with onset at 8 years, had a milder course. Three patients with a teenage/adult onset presented with a classic progressive myoclonic epilepsy phenotype that was preceded by learning disability in one. The EEG background was slow close to disease onset in 7 children, and later showed severe attenuation; a photoparoxysmal response (PPR) was present in all. The 3 teenage/adult patients had normal EEG background and an intense PPR. Early attenuation of the electroretinogram was seen only in children with onset younger than 5.5 years. Somatosensory evoked potentials were extremely enlarged in all patients.Conclusions:In all patients, multifocal myoclonic jerks and seizures were a key feature, but myoclonic seizures were an early and prominent sign in the teenage/adult form only. Conversely, the childhood-onset form was characterized by initial and severe cognitive impairment coupled with electroretinogram and EEG attenuation. Cortical hyperexcitability, shown by the PPR and enlarged somatosensory evoked potentials, was a universal feature.