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TitleNeuroferritinopathy : missense mutation in FTL causing early-onset bilateral pallidal involvement
Author(s)Maciel, P.
Cruz, V. T.
Constante, M.
Iniesta, I.
Costa, Maria do Carmo
Gallati, S.
Sousa, Nuno
Sequeiros, Jorge
Coutinho, P.
Santos, M. M.
Missense mutation
Basal ganglia
Issue dateAug-2005
PublisherAmerican Academy of Neurology (AAN)
Citation"Neurology". ISSN 0028-3878. 65:4 (2005) 603-605.
Abstract(s)The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. This mutation was also present in his asymptomatic mother and younger brother, who had abnormally low levels of ferritin in the serum. The patient and his mother displayed bilateral involvement of the pallidum.
Publisher version
AccessOpen access
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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