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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 25, 2024 - Issue 3-4
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Brief Report

A novel DHTKD1 gene mutation with ALS like presentation: a case report

Deepak Menon1 Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bangalore, India and
,
Saraswati Nashi1 Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bangalore, India and
,
Manisha Mohanty1 Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bangalore, India and
,
Rohin Dubbal1 Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bangalore, India and
,
Farsana MK1 Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bangalore, India and
,
Seena Vengalil1 Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bangalore, India and
,
Aneesha Thomas1 Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bangalore, India and
,
Vijay Kumar1 Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bangalore, India and
,
Dipti Baskar1 Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bangalore, India and
,
Gautham Arunachal2 Department of Human Genetics, National Institute of Mental Health and Neuro-Sciences, Bangalore, India
&
Atchayaram Nalini1 Department of Neurology, National Institute of Mental Health and Neuro-Sciences, Bangalore, India andCorrespondence[email protected]
 show all
Pages 413-415 | Received 24 Aug 2023, Accepted 10 Oct 2023, Published online: 25 Oct 2023

References

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  • Jankovic M, Novakovic I, Gamil Anwar Dawod P, Gamil Anwar Dawod A, Drinic A, Abdel Motaleb FI, et al. Current concepts on genetic aspects of mitochondrial dysfunction in amyotrophic lateral sclerosis. Int J Mol Sci. 2021;22:9832.
  • Xu W, Zhu H, Gu M, Luo Q, Ding J, Yao Y, et al. DHTKD1 is essential for mitochondrial biogenesis and function maintenance. FEBS Lett. 2013;587:3587–92.
  • Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, et al. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am J Hum Genet. 2012;91:1082–7.
  • Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Hölker I, Altmueller J, et al. Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum Mutat. 2018;39:1284–98.
  • Xu W. y, Gu M. m, Sun L. h, Guo W. t, Zhu H. b, Ma J. f, et al. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet. 2012;91:1088–94.
  • Osmanovic A, Gogol I, Martens H, Widjaja M, Müller K, Schreiber-Katz O, et al. Heterozygous DHTKD1 variants in two European cohorts of amyotrophic lateral sclerosis patients. Genes. 2021;13:84.
  • Kumar KH. Charcot Marie Tooth disease type 2Q with DHTKD1 mutation-a report of the first case from India. Neurology. 2020;94:186. https://n.neurology.org/content/94/15_Supplement/186

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