Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement

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 abno...

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Bibliographic Details
Main Author: Maciel, P. (author)
Other Authors: Cruz, V. T. (author), Constante, M. (author), Iniesta, I. (author), Costa, Maria do Carmo (author), Gallati, S. (author), Sousa, Nuno (author), Sequeiros, Jorge (author), Coutinho, P. (author), Santos, M. M. (author)
Format: article
Language:eng
Published: 2005
Subjects:
Neuroferritinopathy
Missense mutation
Basal ganglia
Science & Technology
Online Access:http://hdl.handle.net/1822/3939
Country:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/3939

Internet

http://hdl.handle.net/1822/3939

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