Objective: To describe a  series (clinical  and imaging)  of movement disorders occurring in  patients with hemochromatosis

Background: Hemochromatosis is a frequent disease, characterized by deposits of excess iron that causes multiple organ dysfunction (1).  Hereditary hemochromatosis (HH)  is a  frequent  autosomal recessive disorder in Europe. The cause of  most cases of HH is a homozygous mutation in HFE (hemostatic iron regulator; chromosome 6p22.2, exon 4, c.845G→A, rs1800562). Hemochromatosis  can be suspected by elevation of  ferritin and transferrin saturation. Clinically, hemochromatosis  is manifested by liver disease, arthritis, diabetes and cardiomyopathy (1,2). Occasionally, movement disorders have been described in patients with hemochromatosis  (3-6) although this association has been debated (7). Recently, an abnormal brain iron deposition on imaging  has been noted in HH carriers and many of these patients exhibited movement disorders according to the authors (8,9)

Over the last years we had the opportunity to study several patients with hemochromatosis and movement disorders including dystonia and late onset non-HD chorea

Method: Retrospective study of  patients with hemochromatosis  and movement disorders who fulfilled the following criteria:

a) Hematological (elevated ferritin and/or transferrin saturation) and genetic data of hemochromatosis 

b) Presence of movement disorders (including tremor, parkinsonism, dystonia, tics, myoclonus and chorea)

c) No better explanation for the presence of movement disorders including  hereditary parkinsonism, Huntington´s disease etc

Results: For the moment we identified 9 cases of movement disorders associated with  Hemochromatosis (8 genetically confirmed, one patient with typical hematological abnormalities but negative for the most frequent HH mutations). These patients presented parkinsonism (4), mixed tremor (2), postural tremor (1), late onset chorea (1) and focal dystonia (1).

Brain MRI showed Fe accumulation in  some patients :  Fig 1 (T2)  and Fig 2  (SWI)

Conclusion: Hemochromatosis may be associated with  Movement Disorders including late onset chorea (negative HD gene). In some cases, Fe accumulation can be shown in basal ganglia

Figure 1. MRI from patient 1

Figure 2. MRI from patient 2

References: 1- Yen AW, Fancher TL, Bowlus CL. Revisiting hereditary hemochromatosis: current concepts and progress. Am J Med. 2006 May;119(5):391-9. doi: 10.1016/j.amjmed.2005.10.041
2- Olynyk JK, Ramm GA. Hemochromatosis. N Engl J Med. 2022 Dec 8;387(23):2159-2170. doi: 10.1056/NEJMra2119758
3- Demarquay G, Setiey A, Morel Y, Trepo C, Chazot G, Broussolle E. Clinical report of three patients with hereditary hemochromatosis and movement disorders.Mov Disord. 2000 Nov;15(6):1204-9. doi: 10.1002/15318257(200011)15:6<1204::aid-mds1021>3.0.co;2-t.
4- Di Filippo M, Floridi P, Rossi V, Mattucci E, Rossi A, Calabresi P, Tambasco N. A young patient with type C multiple system atrophy and hereditary hemochromatosis. J Neurol. 2010 Feb;257(2):294-5. doi: 10.1007/s00415-009-5345-6. Epub 2009 Oct 14.
5- Williams S, Vinjam MR, Ismail A, Hassan A. A parkinsonian movement disorder with brain iron deposition and a haemochromatosis mutation. J Neurol. 2013 Aug;260(8):2170-1. doi: 10.1007/s00415-013-6995-y. Epub 2013 Jun 23
6- Kumar N, Rizek P, Sadikovic B, Adams PC, Jog M. Movement Disorders Associated With Hemochromatosis. Can J Neurol Sci. 2016 Nov;43(6):801-808. doi: 10.1017/cjn.2016.286
7- Russo N, Edwards M, Andrews T, O’Brien M, Bhatia KP. Hereditary haemochromatosis is unlikely to cause movement disorders–a critical review.J Neurol. 2004 Jul;251(7):849-52. doi: 10.1007/s00415-004-0445-9
8- Sharma S, Sethi SK, Reese D, Gharabaghi S, Yerramsetty KK, Palutla VK, Chen Y, Haacke EM, Jog MS. Brain iron deposition and movement disorders in hereditary haemochromatosis without liver failure: A cross-sectional study. Eur J Neurol. 2022 May;29(5):1417-1426. doi: 10.1111/ene.15242. Epub 2022 Jan 14
9- Loughnan R, Ahern J, Tompkins C, Palmer CE, Iversen J, Thompson WK, Andreassen O, Jernigan T, Sugrue L, Dale A, Boyle MET, Fan CC. Association of Genetic Variant Linked to Hemochromatosis With Brain Magnetic Resonance Imaging Measures of Iron and Movement Disorders. JAMA Neurol. 2022 Sep 1;79(9):919-928. doi: 10.1001/jamaneurol.2022.2030.

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