Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Apr 27;9(5):707-709.
doi: 10.1002/mdc3.13450. eCollection 2022 Jul.

Progressive Generalized Dystonia-Parkinsonism in a Child with Fumaric Aciduria

Diogo Reis-Carneiro  1 , Conceição Robalo  2 , Mário Laço  3 , Marie Vidailhet  4   5 , Luísa Diogo  6
Affiliations

Progressive Generalized Dystonia-Parkinsonism in a Child with Fumaric Aciduria

Diogo Reis-Carneiro et al. Mov Disord Clin Pract. .
No abstract available

Keywords: dystonia; fumaric aciduria; inherited metabolic disorder; parkinsonism; pediatric.

PubMed Disclaimer

Figures

FIG. 1
FIG. 1
(A) Brain MRI at age 12, with thin corpus callosum and mild cortico‐subcortical generalized atrophy. No lesions involved the basal ganglia, cerebellum, or pyramidal tracts. (B) Pedigree depicting the index case (arrow) and her unaffected parents. (C) Chromatograms of the c.267 + 1_267 + 10del and c.1431_1433dup FH mutations.
See this image and copyright information in PMC

References

    1. Zinn AB, Kerr DS, Hoppel CL. Fumarase deficiency: A new cause of mitochondrial encephalomyopathy. N Engl J Med 1986;315(8):469–475. 10.1056/NEJM198608213150801. - DOI - PubMed
    1. Kerrigan JF, Aleck KA, Tarby TJ, Bird CR, Heidenreich RA. Fumaric aciduria: Clinical and imaging features. Ann Neurol 2000;47:583–588. - PubMed
    1. Bourgeron T, Chretien D, Poggi‐Bach J, et al. Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest 1994;93(6):2514–2518. 10.1172/JCI117261. - DOI - PMC - PubMed
    1. Whelan DT, Hill RE, McClorry S. Fumaric aciduria: A new organic aciduria, associated with mental retardation and speech impairment. Clin Chim Acta 1983;132:301–308. - PubMed
    1. Peetsold M, Goorden S, Breuning M, et al. Fumarase deficiency: A case with a new pathogenic mutation and a review of the literature. J Child Neurol 2021;36(4):310–323. 10.1177/0883073820962931. - DOI - PubMed

LinkOut - more resources