Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
권호 표지
DOI QR코드

DOI QR Code

Likely pathogenic FIG4 related amyotrophic lateral sclerosis patient who correlated with clinical, imaging and neuropsychological studies

  • Ko, Pan-Woo (Department of Neurology, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University) ;
  • Min, Yu-Sun (Department of Rehabilitation, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University) ;
  • Park, Jin-Sung (Department of Neurology, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University)
  • Received : 2019.11.05
  • Accepted : 2020.01.30
  • Published : 2020.04.30
Download PDF
⟨ Previous Next ⟩

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with numerous causes that include genetic factors. Efforts to reveal the genetics of ALS have identified several candidate genes that are associated with familial and sporadic ALS. Here we report a Korean ALS patient who showed prominent upper motor-neuron-related symptoms with marked brain atrophy and neuropsychological deficits. The findings were highly suggestive of ALS in a patient with a likely pathogenic FIG4 variant.

Keywords

References

  1. Renton AE, Chio A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 2014;17:17-23. https://doi.org/10.1038/nn.3584
  2. Kim HJ, Oh KW, Kwon MJ, Oh SI, Park JS, Kim YE, et al. Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing. Neurobiol Aging 2016;37:209. e9-e16.
  3. Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, et al. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 2007;448:68-72. https://doi.org/10.1038/nature05876
  4. Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, et al. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 2009;84:85-88. https://doi.org/10.1016/j.ajhg.2008.12.010
  5. Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, et al. Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet 2013;92:781-791. https://doi.org/10.1016/j.ajhg.2013.03.020
  6. Osmanovic A, Rangnau I, Kosfeld A, Abdulla S, Janssen C, Auber B, et al. FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. Eur J Hum Genet 2017;25:324-331. https://doi.org/10.1038/ejhg.2016.186
  7. Massman PJ, Sims J, Cooke N, Haverkamp LJ, Appel V, Appel SH. Prevalence and correlates of neuropsychological deficits in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 1996;61:450-455. https://doi.org/10.1136/jnnp.61.5.450
  8. Ringholz GM, Appel SH, Bradshaw M, Cooke NA, Mosnik DM, Schulz PE. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 2005;65:586-590. https://doi.org/10.1212/01.wnl.0000172911.39167.b6