Neuroferritinopathy: a new inborn error of iron metabolism - PubMed (original) (raw)

Neuroferritinopathy: a new inborn error of iron metabolism

Michael J Keogh et al. Neurogenetics. 2012 Feb.

Abstract

Neuroferritinopathy is an autosomal dominant progressive movement disorder which occurs due to mutations in the ferritin light chain gene (FTL1). It presents in mid-adult life and is the only autosomal dominant disease in a group of conditions termed neurodegeneration with brain iron accumulation (NBIA). We performed brain MRI scans on 12 asymptomatic descendants of known mutation carriers. All three harbouring the pathogenic c.460InsA mutation showed iron deposition; these findings show pathological iron accumulation begins in early childhood which is of major importance in understanding and developing treatment for NBIA.

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Figures

Fig. 1

Fig. 1

Transaxial T2*-weighted gradient echo images at the level of the a midbrain, b basal ganglia, c thalami and d motor cortex. Gene-positive subject (subject A) from the 6–16-year-old group. Signal hypointensity is seen in the substantia nigra (a, b) and globus pallidus (c)

Fig. 2

Fig. 2

Subject B (17–25-year-old group). T2* signal hypointensity in the substantia nigra (a, arrow), red nucleus (a, arrowhead), globus pallidus (b, c) and thalami (c, arrow). There is faint hypointensity involving the motor strip (d, arrow)

Fig. 3

Fig. 3

Subject C (27–36-year-old group). Substantia nigra and red nucleus (a), globus pallidus and thalamus (b, c) and motor cortex (d) T2* signal hypointensity. The thalamic hypointensity in particular is more prominent than in subjects A and B

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