Article
The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy.
Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2019
Grimaldi Silvia, Cupidi Chiara, Smirne Nicoletta, Bernardi Livia, Giacalone Fabio, Piccione Giuseppina, Basiricò Salvatore, Mangano Giuseppe Donato, Nardello Rosaria, Orsi Laura, Grosso Enrico, Laganà Valentina, Mitolo Micaela, Maletta Raffaele Giovanni, Bruni Amalia Cecilia
Abstract excerpt
BACKGROUND: Dentatorubral-pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japan but rare in Caucasians. The objective of this study was to reconstruct the pedigree of Italian dentatorubral-pallidoluysian atrophy familial cases describing their clinical features. METHODS: We investigated 6 apparently unrelated dentatorubral-pallidoluysian atrophy families comprising a total...
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