Article
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.
Journal of the neurological sciences - 15 Sept 2015
Di Giacopo Raffaella, Cianetti Luciano, Caputo Viviana, La Torraca Ilaria, Piemonte Fiorella, Ciolfi Andrea, Petrucci Simona, Carta Claudio, Mariotti Paolo, Leuzzi Vincenzo, Valente Enza Maria, D'Amico Adele, Bentivoglio Annarita, Bertini Enrico, Tartaglia Marco, Zampino Giuseppe
Abstract excerpt
OBJECTIVE: This work investigated the molecular cause responsible for a late-onset parkinsonism-dystonia phenotype in three Italian siblings, and clinically characterize this condition. METHODS: Extensive neurophysiological and neuroradiological exams were performed on the three sibs. Most frequent late-onset metabolic diseases were ruled out through laboratory and biochemical analyses. A whole exome sequencing...
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