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Case Reports
. 2005 Aug 23;65(4):603-5.
doi: 10.1212/01.wnl.0000178224.81169.c2.

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

P Maciel  1 , V T Cruz, M Constante, I Iniesta, M C Costa, S Gallati, N Sousa, J Sequeiros, P Coutinho, M M Santos
Affiliations
Case Reports

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

P Maciel et al. Neurology. .

Abstract

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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Conflict of interest statement

Disclosure: The authors report no conflicts of interest.

Figures

Figure 1
Figure 1
MRI study of the patient (a through e) and his mother (f). A bilateral pallidal hyperintensity can be observed in axial T2-weighted (a), fluid-attenuated inversion recovery (b), and coronal T2 images; no significant surrounding hypointensities were noted in these images. A diffuse atrophy of the parenchyma could also be appreciated, including the vermian region (d). Similar T2-weighted images of the patient (e) and his mother (f) revealed the same pattern of pallidal involvement, although the extent of signal alterations was smaller in the mother’s study, where no concomitant parenchimal atrophy was noted.
Figure 2
Figure 2
Pedigree of the family in study (a): black square = individual with clinical signs, low ferritin levels, MRI findings and FTL mutation; half-filled circle = low ferritin levels, MRI findings and FTL mutation; low ferritin levels and FTL mutation; circle or square with an n = no FTL mutation. Molecular analysis revealing the heterozygous 474 A>G sequence change in the FTL gene: (b) sequencing chromatogram of the PCR product including exons 3 and 4 of the patients and (c) PCR-RFLP analysis of all family members available for study. C- control individual, CU –undigested PCR product, B-PCR blank.
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