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FA2H Mutations in a Young Adult Presenting as an Isolated Cognitive Impairment Syndrome

  • Luis André Leal Ferman (a1) (a2), Mathieu Lévesque (a1) (a2), Sébastien Lévesque (a3) and Christian Bocti (a1) (a2) (a4)

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Corresponding author

Correspondence to: Luis André Leal Ferman, MD, FRCPC, Division of Neurology, Centre intégré universitaire de santé et de services sociaux de l’Estrie - Centre hospitalier universitaire de Sherbrooke, 3001 12e Avenue Nord, Sherbrooke, Quebec, CanadaJ1H 5N4. Email: luis.andre.leal.ferman@USherbrooke.ca Christian Bocti, MD, FRCPC, Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001 12e Avenue Nord, Sherbrooke, Quebec, CanadaJ1H 5N4. Email: christian.bocti@usherbrooke.ca

References

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1.Rattay, TW, Lindig, T, Baets, J.FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. Brain. 2019 Jun 1;142(6):1561–72.
2.Edvardson, S, Hama, H, Shaag, A, et al.Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008;83:643–48.
3.Kruer, MC, Gregory, A, Hayflick, SJ.Fatty Acid Hydroxylase-Associated Neurodegeneration. In: Adam, MP, Ardinger, HH, Pagon, RA, et al., editors. GeneReviews® [online]. Seattle, WA: University of Washington; 1993. Accessed at: http://www.ncbi.nlm.nih.gov/books/NBK56080/.
4.Dick, KJ, Al-Mjeni, R, Baskir, W, et al.A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology. 2008;71:248–52.
5.Mari, F, Berti, B, Romano, A, et al. Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review. Neurogenetics. Epub 2018 Feb 8.
6.Ioannidis, NM, Rothstein, JH, Pejaver, V, et al.REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99(4):877–85.
7.Tonelli, A, D’Angelo, MG, Arrigoni, F, et al.Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation. Eur J Neurol. 2012;19:e12729.
8.Kuruppu, DK, Matthews, BR.Young-onset dementia. Semin Neurol. 2013;33:365–85.

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FA2H Mutations in a Young Adult Presenting as an Isolated Cognitive Impairment Syndrome

  • Luis André Leal Ferman (a1) (a2), Mathieu Lévesque (a1) (a2), Sébastien Lévesque (a3) and Christian Bocti (a1) (a2) (a4)

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