Skip to main content
SpringerLink
Log in

Dementia and Psychiatric Disorders

  • Chapter
  • First Online:
Inherited Neurological Disorders

  • 843 Accesses

Abstract

Dementia is a broad category of neurodegenerative diseases that cause a decline in memory, the ability to acquiring knowledge and understanding that ultimately affect a person’s daily functioning. Other common symptoms include a decrease in the ability of attention, judgment, problem solving, comprehension, and production of language. Psychiatric problems are also very common in patients with dementia. Dementia is often sporadic, and the prevalence is associated with aging. The most common types of dementia are Alzheimer’s disease, vascular cognitive impairment, Lewy body dementia, and frontotemporal lobe degeneration. However, some hereditary disease such as Huntington’s disease (HD), cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Niemann–Pick disease (NPD), fatal familial insomnia (FFI), adrenoleukodystrophy (ALD), etc. can also manifest as cognitive impairment. However, most of these disorders present with characteristic symptoms other than cognitive decline. In this chapter, we presented several disorders with dementia or psychiatric problems caused by genetic mutations.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 54.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Bauer P, Laccone F, Rolfs A, Wüllner U, Bösch S, Peters H, Liebscher S, Scheible M, Epplen J, Weber B. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype. J Med Genet. 2004;41(3):230–2.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schöls L, Riess O. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol. 2003;54(3):367–75.

    Article  PubMed  Google Scholar 

  3. Kanazawa I. Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. Neurogenetics. 1998;2(1):1–17.

    Article  CAS  PubMed  Google Scholar 

  4. Paleacu D, Schechtman E, Inzelberg R. Association between family history of dementia and hallucinations in Parkinson disease. Neurology. 2005;64(10):1712–5.

    Article  PubMed  Google Scholar 

  5. Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, Nance M, Ross CA, Scahill RI, Wetzel R. Huntington disease. Nat Rev Dis Primers. 2015;1:15005.

    Article  PubMed  Google Scholar 

  6. Schoenfeld M, Myers RH, Cupples LA, Berkman B, Sax DS, Clark E. Increased rate of suicide among patients with Huntington’s disease. J Neurol Neurosurg Psychiatry. 1984;47(12):1283–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Huntington G. On chorea. Med Surg Report Weekly J (Philadelphia: S.W. Butler). 1872;26(15):317–21.

    Google Scholar 

  8. Group HsDCR. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993;72:971–83.

    Article  Google Scholar 

  9. Bean L, Bayrak-Toydemir P, Committee ALQA. American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease. Genet Med. 2014;16(12):e2.

    Article  PubMed  Google Scholar 

  10. Lee J-M, Ramos E, Lee J-H, Gillis T, Mysore J, Hayden M, Warby S, Morrison P, Nance M, Ross C. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012;78(10):690–5.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Wexler NS. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington’s disease age of onset. Proc Natl Acad Sci U S A. 2004;101(10):3498–503.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Milunsky J, Maher T, Loose B, Darras B, Ito M. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington’s disease. Clin Genet. 2003;64(1):70–3.

    Article  CAS  PubMed  Google Scholar 

  13. Rosenblatt A. Neuropsychiatry of Huntington’s disease. Dialogues Clin Neurosci. 2007;9(2):191–7.

    PubMed  PubMed Central  Google Scholar 

  14. Duff K, Paulsen JS, Beglinger LJ, Langbehn DR, Stout JC. Group P-HIotHS. Psychiatric symptoms in Huntington’s disease before diagnosis: the predict-HD study. Biol Psychiatry. 2007;62(12):1341–6.

    Google Scholar 

  15. Gatto EM, Parisi V, Etcheverry JL, Sanguinetti A, Cordi L, Binelli A, Persi G, Squitieri F. Juvenile Huntington disease in Argentina. Arq Neuropsiquiatr. 2016;74(1):50–4.

    Article  PubMed  Google Scholar 

  16. Henley SM, Wild EJ, Hobbs NZ, Warren JD, Frost C, Scahill RI, Ridgway GR, MacManus DG, Barker RA, Fox NC. Defective emotion recognition in early HD is neuropsychologically and anatomically generic. Neuropsychologia. 2008;46(8):2152–60.

    Article  PubMed  Google Scholar 

  17. Shannon KM, Fraint A. Therapeutic advances in Huntington’s disease. Mov Disord. 2015;30(11):1539–46.

    Article  PubMed  Google Scholar 

  18. Nance M, Paulsen JS, Rosenblatt A, Wheelock V. A Physician’s guide to the management of Huntington’s disease. New York: Huntington’s Disease Society of America; 2015.

    Google Scholar 

  19. Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, Krebs MO, Julien J, Dubois B, Ducrocq X, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet. 1995;346(8980):934–9.

    Article  CAS  PubMed  Google Scholar 

  20. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cecillion M, Marechal E, Maciazek J, Vayssiere C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature. 1996;383(6602):707–10.

    Article  CAS  PubMed  Google Scholar 

  21. Federico A, Bianchi S, Dotti MT. The spectrum of mutations for CADASIL diagnosis. Neurol Sci. 2005;26(2):117–24.

    Article  CAS  PubMed  Google Scholar 

  22. Wang Z, Yuan Y, Zhang W, Lv H, Hong D, Chen B, Liu Y, Luan X, Xie S, Wu S. NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL. J Neurol Neurosurg Psychiatry. 2011;82(5):534–9.

    Article  PubMed  Google Scholar 

  23. Liu X, Zuo Y, Sun W, Zhang W, Lv H, Huang Y, Xiao J, Yuan Y, Wang Z. The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations. J Neurol Sci. 2015;354(1–2):63–9.

    Article  CAS  PubMed  Google Scholar 

  24. Liao YC, Hsiao CT, Fuh JL, Chern CM, Lee WJ, Guo YC, Wang SJ, Lee IH, Liu YT, Wang YF, Chang FC, Chang MH, Soong BW, Lee YC. Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles. PLoS One. 2015;10(8):e0136501.

    Article  PubMed  PubMed Central  Google Scholar 

  25. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol. 2009;8(7):643–53.

    Article  PubMed  Google Scholar 

  26. Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH, Powell JF. Diagnostic strategies in CADASIL. Neurology. 2002;59(8):1134–8.

    Article  CAS  PubMed  Google Scholar 

  27. Tikka S, Mykkanen K, Ruchoux MM, Bergholm R, Junna M, Poyhonen M, Yki-Jarvinen H, Joutel A, Viitanen M, Baumann M, Kalimo H. Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. Brain. 2009;132(Pt 4):933–9.

    Article  PubMed  PubMed Central  Google Scholar 

  28. Yanagawa S, Ito N, Arima K, et al. Cerebral autosomal recessive arteriopathy with subcortical infarcts andleukoencephalopathy. Neurology. 2002;58(5):817–20.

    Article  PubMed  Google Scholar 

  29. Nozaki H, Nishizawa M, Onodera O. Features of cerebral autosomal recessive ArteriopathyWith subcortical infarcts and leukoencephalopathy. Stroke. 2014;45(11):3447–53.

    Article  PubMed  Google Scholar 

  30. Wang XL, Li CF, Guo HW, et al. A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree. CNS Neurosci Ther. 2012;18(10):867–9.

    Article  CAS  PubMed  Google Scholar 

  31. Cai B, Zeng JB, Lin Y, et al. A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population. Neurol Sci. 2015;36(8):1387–91.

    Article  PubMed  Google Scholar 

  32. Mendioroz M, Fernandez-Cadenas I, Del RA, et al. A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. Neurology. 2010;75(22):2033–5.

    Article  CAS  PubMed  Google Scholar 

  33. Bianchi S, Di PC, Gallus GN, et al. Two novel HTRA1 mutations in a European CARASIL patient. Neurology. 2014;82(10):898–900.

    Article  PubMed  Google Scholar 

  34. Hara K, Shiga A, Fukutake T, et al. Association of HTRA1 mutations and familial ischemic cerebral small-vesseldisease. N Engl J Med. 2009;360(17):1729–39.

    Article  CAS  PubMed  Google Scholar 

  35. Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts andleukoencephalopathy (CARASIL): from discovery to gene identification. J Stroke Cerebrovasc Dis. 2011;20(2):85–93.

    Article  PubMed  Google Scholar 

  36. Oide T, Nakayama H, Yanagawa S, et al. Extensive loss of arterial medial smooth muscle cells and mural extracellularmatrix in cerebral autosomal recessive arteriopathy with subcortical infarcts andleukoencephalopathy (CARASIL). Neuropathology. 2008;28(2):132–42.

    Article  PubMed  Google Scholar 

  37. Cai B, Lin Y, Xue XH, et al. TAT-mediated delivery of neuroglobin protects against focal cerebral ischemia in mice. Exp Neurol. 2011;227(1):224–31.

    Article  CAS  PubMed  Google Scholar 

  38. Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, Kass NE, Moser HW. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol. 2001;49(4):512–7.

    Article  CAS  PubMed  Google Scholar 

  39. Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, Barth PG, Wanders RJ. Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy. Mol Genet Metab. 2005;84(2):144–51.

    Article  CAS  PubMed  Google Scholar 

  40. Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature. 1993;361(6414):726–30.

    Article  CAS  PubMed  Google Scholar 

  41. Kok F, Neumann S, Sarde CO, Zheng S, Wu KH, Wei HM, Bergin J, Watkins PA, Gould S, Sack G, et al. Mutational analysis of patients with X-linked adrenoleukodystrophy. Hum Mutat. 1995;6(2):104–15.

    Article  CAS  PubMed  Google Scholar 

  42. Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat. 2001;18(6):499–515.

    Article  CAS  PubMed  Google Scholar 

  43. Moser HW, Loes DJ, Melhem ER, Raymond GV, Bezman L, Cox CS, Lu SE. X-linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. Neuropediatrics. 2000;31(5):227–39.

    Article  CAS  PubMed  Google Scholar 

  44. Steinberg SJ, Moser AB, Raymond GV. X-linked adrenoleukodystrophy. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2017. 1999 Mar 26 [updated 2015 Apr 9].

    Google Scholar 

  45. Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis. 2012;7:51.

    Article  PubMed  PubMed Central  Google Scholar 

  46. Lugaresi E, Medori R, Montagna P, et al. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med. 1986;315(16):997–1003.

    Article  CAS  PubMed  Google Scholar 

  47. Harder A, Gregor A, Wirth T, et al. Early age of onset in fatal familial insomnia. Two novel cases and review of the literature. J Neurol. 2004;251(6):715–24.

    CAS  PubMed  Google Scholar 

  48. Krasnianski A, Bartl M, Sanchez Juan PJ, et al. Fatal familial insomnia: clinical features and early identification. Ann Neurol. 2008;63(5):658–61.

    Article  PubMed  Google Scholar 

  49. Montagna P, Cortelli P, Avoni P, et al. Clinical features of fatal familial insomnia: phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene. Brain Pathol. 1998;8:515–20.

    Article  CAS  PubMed  Google Scholar 

  50. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, Group N-CGW. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106(3):330–44.

    Article  CAS  PubMed  Google Scholar 

  51. Sturley SL, Patterson MC, Balch W, Liscum L. The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta. 2004;1685(1–3):83–7.

    Article  CAS  PubMed  Google Scholar 

  52. Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F. The adult form of Niemann-Pick disease type C. Brain. 2007;130(Pt 1):120–33.

    PubMed  Google Scholar 

  53. Lazzaro VD, Marano M, Florio L, De Santis S. Niemann-Pick type C: focus on the adolescent/adult onset form. Int J Neurosci. 2016;126(11):963–71.

    Google Scholar 

  54. Salsano E, Umeh C, Rufa A, Pareyson D, Zee DS. Vertical supranuclear gaze palsy in Niemann-Pick type C disease. Neurol Sci. 2012;33(6):1225–32.

    Article  PubMed  Google Scholar 

  55. Bauer P, Balding DJ, Klunemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet. 2013;22(21):4349–56.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  56. Grau AJ, Brandt T, Weisbrod M, Niethammer R, Forsting M, Cantz M, Vanier MT, Harzer K. Adult Niemann-Pick disease type C mimicking features of multiple sclerosis. J Neurol Neurosurg Psychiatry. 1997;63(4):552.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China

    Hong-Lei Li, Yan-Bin Zhang, Sheng Chen, Zhi-Jun Liu & Hao Yu

  2. Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China

    Bin Cai & Yan-Fang Niu

Authors
  1. Hong-Lei Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yan-Bin Zhang
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sheng Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Bin Cai
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Zhi-Jun Liu
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Yan-Fang Niu
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Hao Yu
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Hong-Lei Li .

Editor information

Editors and Affiliations

  1. Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China

    Zhi-Ying Wu

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Nature Singapore Pte Ltd.

About this chapter

Cite this chapter

Li, HL. et al. (2017). Dementia and Psychiatric Disorders. In: Wu, ZY. (eds) Inherited Neurological Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-10-4196-9_7

Download citation

  • DOI: https://doi.org/10.1007/978-981-10-4196-9_7

  • Published:

  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-10-4195-2

  • Online ISBN: 978-981-10-4196-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation