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 Volume 65, Number 4, August 23, 2005
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NEUROLOGY 2005;65:603-605
© 2005 American Academy of Neurology
Brief Communications

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

P. Maciel, PhD, V. T. Cruz, MD, M. Constante, BSc, I. Iniesta, MD, M. C. Costa, BSc, S. Gallati, PhD, N. Sousa, MD, PhD, J. Sequeiros, MD, PhD, P. Coutinho, MD, PhD and M. M. Santos, PhD

From the Life and Health Sciences Research Institute (Drs. Maciel, Costa, and Sousa), School of Health Sciences, University of Minho, Braga, Portugal; UnIGENe (Drs. Maciel, Constante, Costa, Sequeiros, Coutinho, and Santos), IBMC, Department of Population Studies (Drs. Maciel and Sequeiros), ICBAS, University of Porto, Portugal; Hosp. S. Sebastião (Drs. Cruz, Iniesta, and Coutinho), Sta. Maria da Feira, Portugal; Department of Medicine (Drs. Constante and Santos), CHUM–Hôpital Notre-Dame, Université de Montreal, Québec, Canada; Department of Clinical Research and Department of Pediatrics (Dr. Gallati), University of Berne, Inselspital, Switzerland.

Address correspondence and reprint requests to Dr. Patrícia Maciel, Life and Health Sciences Research Institute, School of Health Sciences, University of Minho, Campus de Gualtar, 4710-057 Braga, Portugal; email: pmaciel{at}ecsaude.uminho.pt

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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the August 23 issue to find the title link for this article.

Research supported by FCT/FEDER (CBO/33485/99). M.C.C. and M.C. received FCT scholarships.

Disclosure: The authors report no conflicts of interest.

Received October 6, 2004. Accepted in final form February 24, 2005.




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