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
Description
Summary: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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