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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Detalhes bibliográficos
Autor principal: Maciel, P. (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2005
Assuntos:
Neuroferritinopathy
Missense mutation
Basal ganglia
Science & Technology
Texto completo:http://hdl.handle.net/1822/3939
País:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/3939
Descrição
Resumo: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.

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