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
Case Reports
. 2017 Aug;7(4):e31-e34.
doi: 10.1212/CPJ.0000000000000297.

Adult-onset dystonia with marfanoid features

Scott A Norris  1 , Anja Pogarcic  1 , Matt Hicks  1 , Joel S Perlmutter  1 , Marwan Shinawi  1
Affiliations
Case Reports

Adult-onset dystonia with marfanoid features

Scott A Norris et al. Neurol Clin Pract. 2017 Aug.

Erratum in

No abstract available

PubMed Disclaimer

Figures

Figure.
Figure.. Homocysteine catabolism affected by cystathionine β-synthase deficiency
B6 = vitamin B6 (pyroxidine); B12 = vitamin B12 (cobalamin); BHMT = betaine-homocysteine S-methyltransferase; DMG = dimethylglycine; MS = methionine synthase; MTHF = methyltetrahydrofolate; SAH = S-adenosylhomocysteine; SAM = S-adenosylmethionine; THF = tetrahydrofolate.
See this image and copyright information in PMC

References

    1. Mudd SH, Skovby F, Levy HL, et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 1985;37:1–31. - PMC - PubMed
    1. Kempster PA, Brenton DP, Gale AN, Stern GM. Dystonia in homocystinuria. J Neurol Neurosurg Psychiatry 1988;51:859–862. - PMC - PubMed
    1. Sinclair AJ, Barling L, Nightingale S. Recurrent dystonia in homocystinuria: a metabolic pathogenesis. Mov Disord 2006;21:1780–1782. - PubMed
    1. Oladipo O, Spreitsma L, Dietzen DJ, Shinawi M. Increased homocysteine in a patient diagnosed with Marfan syndrome. Clin Chem 2010;56:1665–1668. - PubMed
    1. Varlibas F, Cobanoglu O, Ergin B, Tireli H. Different phenotypy in three siblings with homocystinuria. Neurologist 2009;15:144–146. - PubMed

Publication types

LinkOut - more resources