Familial Creutzfeldt-Jakob Disease

Case report and role of genetic counseling in post mortem testing

Kristin Clift, Kimberly Guthrie, Eric W Klee, Nicole Boczek, Margot Cousin, Patrick Blackburn, Paldeep Atwal

Research output: Contribution to journalArticle

Abstract

Here we present a case of an asymptomatic 53-year-old woman who sought genetic testing for Familial Creutzfeldt-Jakob Disease (fCJD) after learning that her mother had fCJD. The patient's mother had a sudden onset of memory problems and rapidly deteriorating mental faculties in her late 70s, which led to difficulties ambulating, progressive non-fluent aphasia, dysphagia and death within ∼1 y of symptom onset. The cause of death was reported as “rapid onset dementia.” The patient's family, unhappy with the vague diagnosis, researched prion disorders online and aggressively pursued causation and submitted frozen brain tissue from the mother to the National Prion Disease Surveillance Center, where testing revealed a previously described 5-octapeptide repeat insertion (5-OPRI) in the prion protein gene (PRNP) that is known to cause fCJD. The family had additional questions about the implications of this result and thus independently sought out genetic counseling. While rare, fCJD is likely underdiagnosed due to clinical heterogeneity, rapid onset, early non-specific symptomatology, and overlap in the differential diagnosis of Alzheimer disease and Lewy body dementias. When fCJD is identified, a multidisciplinary approach to return of results that includes the affected patient's provider, genetics professionals, and mental health professionals is key to the care of the family. We present an example case which discusses the psychosocial issues encountered and the role of genetic counseling in presymptomatic testing for incurable neurodegenerative conditions. Ordering physicians should be aware of the basic issues surrounding presymptomatic genetic testing and identify local genetic counseling resources for their patients.

Original languageEnglish (US)
Pages (from-to)502-506
Number of pages5
JournalPrion
Volume10
Issue number6
DOIs
StatePublished - Nov 1 2016

Fingerprint

Creutzfeldt-Jakob Syndrome
Genetic Counseling
Testing
Mothers
Genetic Testing
Prions
Lewy Body Disease
Prion Diseases
Aphasia
Deglutition Disorders
Causality
Dementia
Cause of Death
Mental Health
Alzheimer Disease
Differential Diagnosis
Learning
Physicians
Brain
Health

Keywords

  • Familial Creutzfeldt-Jakob disease
  • genetic counseling
  • prion disease
  • PRPN
  • return of results

ASJC Scopus subject areas

  • Biochemistry
  • Cellular and Molecular Neuroscience
  • Cell Biology
  • Infectious Diseases

Cite this

Familial Creutzfeldt-Jakob Disease : Case report and role of genetic counseling in post mortem testing. / Clift, Kristin; Guthrie, Kimberly; Klee, Eric W; Boczek, Nicole; Cousin, Margot; Blackburn, Patrick; Atwal, Paldeep.

In: Prion, Vol. 10, No. 6, 01.11.2016, p. 502-506.

Research output: Contribution to journalArticle

Clift, K, Guthrie, K, Klee, EW, Boczek, N, Cousin, M, Blackburn, P & Atwal, P 2016, 'Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing', Prion, vol. 10, no. 6, pp. 502-506. https://doi.org/10.1080/19336896.2016.1254858
Clift, Kristin ; Guthrie, Kimberly ; Klee, Eric W ; Boczek, Nicole ; Cousin, Margot ; Blackburn, Patrick ; Atwal, Paldeep. / Familial Creutzfeldt-Jakob Disease : Case report and role of genetic counseling in post mortem testing. In: Prion. 2016 ; Vol. 10, No. 6. pp. 502-506.
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