3,419
Views
4
CrossRef citations to date
0
Altmetric
Case Report

A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom

, , , &
Pages 7-13 | Received 05 Oct 2021, Accepted 03 Dec 2021, Published online: 29 Dec 2021

References

  • Nozaki I, Hamaguchi T, Sanjo N, et al. Prospective 10-year surveillance of human prion diseases in Japan. Brain. 2010;133:3043–3057.
  • Hayashi Y, Iwasaki Y, Waza M, et al. Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease. Prion. 2020;14(1):109–117.
  • Qina T, Sanjo N, Hizume M, et al. Clinical features of genetic Creutzfeldt-Jakob disease with V180Imutation in the prion protein gene. BMJ Open. 2014;4(5):e004968.
  • Cummings JL. The neuropsychiatric inventory: assessing psychopathology in dementia patients. Neurology. 1997;48(5 Suppl 6):S10–16.
  • Devanand DP, Jacobs DM, Tang MX, et al. The course of psychopathologic features in mild to moderate Alzheimer disease. Arch Gen Psychiatry. 1997;54(3):257–263.
  • Solvason HB, Harris B, Zeifert P, et al. Psychological versus biological clinical interpretation: a patient with prion disease. Am J Psychiatry. 2002;159(4):528–537.
  • Will RG, Matthews WB. A retrospective study of Creutzfeldt-Jakob disease in England and Wales 1970–79. I: clinical features. J Neurol Neurosurg Psychiatry. 1984;47(2):134–140.
  • Wall CA, Rummans TA, Aksamit AJ, et al. Psychiatric manifestations of Creutzfeldt-Jakob disease: a 25-year analysis. J Neuropsychiatry Clin Neurosci. 2005;17(4):489–495.
  • Suzuki K, Matsumura N, Suzuki T, et al. A case of Creutzfeldt-Jakob disease with codon 129 polymorphism and codon 180 point mutation (in Japanese with English abstract). Nippon Ronen Igaku Zasshi. 2008; 45:107–111.
  • Iwasaki Y. Three cases of Creutzfeldt-Jakob disease with prion protein gene codon180 mutation presenting with pathological laughing and crying. J Neurol Sci. 2012;319(1–2):47–50.
  • Iwasaki Y, Mori K, Ito M, et al. A case of V180I genetic Creutzfeldt-Jakob disease presenting with conspicuous facial mimicry. Prion. 2019;13(1):151–155.
  • Borsje P, Wetzels RB, Lucassen PL, et al. The course of neuropsychiatric symptoms in community-dwelling patients with dementia: a systematic review. Int Psychogeriatr. 2015;27(3):385–405.
  • Cipriani G, Vedovello M, Ulivi M, et al. Delusional misidentification syndromes and dementia: a border zone between neurology and psychiatry. Am J Alzheimers Dis Other Demen. 2013;28(7):671–678.
  • Josephs KA. Capgras syndrome and its relationship to neurodegenerative disease. Arch Neurol. 2007;64(12):1762–1766.
  • Harciarek M, Kertesz A. The prevalence of misidentification syndromes in neurodegenerative diseases. Alzheimer Dis Assoc Disord. 2008;22(2):163–169.
  • McKeith IG, Boeve BF, Dickson DW, et al. Diagnosis and management of dementia with Lewy bodies: fourth consensus report of the DLB Consortium. Neurology. 2017;89(1):88–100.
  • Tomizawa Y, Taniguchi D, Furukawa Y. Genetic Creutzfeldt-Jakob disease mimicking dementia with Lewy bodies: clinical and radiological findings. J Neurol Sci. 2020;409:116604.
  • Brown P, Jannotta F, Cj G Jr, et al. Coexistence of Creutzfeldt-Jakob disease and Alzheimer’s disease in the same patient. Neurology. 1990;40(2):226–228.
  • Matsumura T, Kojima S, Kuroiwa Y, et al. An autopsy-verified case of Creutzfeldt–Jakob disease with codon 129 polymorphism and codon 180 point mutation. Clin Neurol. 1995;35:282–285. In Japanese.
  • Iwaski Y, Sone M, Kato T, et al. Clinicopathological characteristics Creutzfeldt–Jakob disease with a PrP V180I mutation and M129V polymorphism on different alleles. Clin Neurol. 1999;39:800–806. In Japanese.
  • Haraguchi T, Terada S, Ishizu H, et al. Coexistence of Creutzfeldt-Jakob disease, Lewy body disease, and Alzheimer’s disease pathology: an autopsy case showing typicalclinical features of Creutzfeldt-Jakob disease. Neuropathology. 2009;29(4):454–459.
  • Bagyinszky E, Giau VV, Youn YC, et al. Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases. Neuropsychiatr Dis Treat. 2018;14:2067–2085.
  • Bagyinszky E, Kang MJ, Pyun J, et al. Early-onset Alzheimer’s disease patient with prion (PRNP) p.Val180Ile mutation. Neuropsychiatr Dis Treat. 2019;15:2003–2013.
  • Devinsky O. Delusional misidentifications and duplications: right brain lesions, left brain delusions. Neurology. 2009;72(1):80–87.
  • Nagahama Y, Okina T, Suzuki N, et al. Neural correlates of psychotic symptoms in dementia with Lewy bodies. Brain. 2010;133(Pt 2):557–567.
  • Jedidi H, Daury N, Capa R, et al. Brain metabolic dysfunction in capgras delusion during Alzheimer’s disease: a positron emission tomography study. Am J Alzheimers Dis Other Demen. 2015;30(7):699–706.
  • Hudson AJ, Grace GM. Misidentification syndromes related to face specific area in the fusiform gyrus. J Neurol Neurosurg Psychiatry. 2000;69(5):645–648.
  • Perez-Madriñan G, Cook SE, Saxton JA, et al. Alzheimer disease with psychosis: excess cognitive impairment is restricted to the misidentification subtype. Am J Geriatr Psychiatry. 2004;12(5):449–456.
  • Ballard C, Holmes C, McKeith I, et al. Psychiatric morbidity in dementia with Lewy bodies: a prospective clinical and neuropathological comparative study with Alzheimer’s disease. Am J Psychiatry. 1999;156(7):1039–1045.
  • Prodromal DLB Diagnostic Study Group; McKeith IG, Ferman TJ, Thomas AJ, et al. Research criteria for the diagnosis of prodromal dementia with Lewy bodies. Neurology. 2020;94(17):743–755.