Journal article

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Laura Canafoglia, Isabella Gilioli, Federica Invernizzi, Vito Sofia, Valeria Fugnanesi, Michela Morbin, Luisa Chiapparini, Tiziana Granata, Simona Binelli, Vidmer Scaioli, Barbara Garavaglia, Nardo Nardocci, Samuel F Berkovic, Silvana Franceschetti



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..

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University of Melbourne Researchers