When Sporadic Disease Is Not Sporadic

Abstract

Certain neurodegenerative diseases may have a genetic etiology, despite the lack of a positive family history. Revealing a newly discovered hereditary cause of Creutzfeldt-Jakob disease or Alzheimer disease can have a profound effect on families. Pretest counseling on genetic issues is essential to better prepare families and to allow them to make an informed choice about learning genetic test results.

Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know

“…The more complicated familial situations reported occurred when the index case was diagnosed while dying and without the whole family realizing the impact of such a diagnosis. Indeed, a case has been reported where after a discussion with the family member, these latters decided they prefer to not know if the index case was genetic or sporadic (Goldman et al, 2004).…”

Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know

“…The more complicated familial situations reported occurred when the index case was diagnosed while dying and without the whole family realizing the impact of such a diagnosis. Indeed, a case has been reported where after a discussion with the family member, these latters decided they prefer to not know if the index case was genetic or sporadic (Goldman et al, 2004).…”

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature

“…A positive family history is frequently used as a sign of genetically determined disease. About 50% of patients with pathogenic PRNP mutations, however, are seemingly sporadic and have negative family history for prion diseases or other neurodegenerative disorders, and hence absence of family history alone should not be used as an evidence against the need of genetic testing [Goldman et al, 2004;Kovacs et al, 2005]. We and many specialists feel that all parients diagnosed with PrD should be offered genetic counseling and testing for mutations in PRNP, when available.…”

“…Importantly, a positive family history of PrD is found in only 50-75% of patients with gJCD, but this percentage varies greatly depending on the mutation [Kovacs et al, 2005]. In many gPrD cases with a reportedly negative family history of PrD, further inspection will usually uncover a family history of dementia or neuropsychiatric illness, however, that was likely PrD, but had likely been misdiagnosed [Goldman et al, 2004].…”

Familial Creutzfeldt-Jakob Disease Cluster Among an African American Family

“…For persons in families affected by fCJD, genetic counseling can help facilitate informed decision making about genetic testing and family planning options that avoid the risk of passing the variant gene to future generations (ie, nonchildbearing, adoption, sperm or egg donation, in vitro fertilization with preimplantation genetic testing). 9,10…”

Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know

“…The more complicated familial situations reported occurred when the index case was diagnosed while dying and without the whole family realizing the impact of such a diagnosis. Indeed, a case has been reported where after a discussion with the family member, these latters decided they prefer to not know if the index case was genetic or sporadic (Goldman et al, 2004).…”

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature

“…A positive family history is frequently used as a sign of genetically determined disease. About 50% of patients with pathogenic PRNP mutations, however, are seemingly sporadic and have negative family history for prion diseases or other neurodegenerative disorders, and hence absence of family history alone should not be used as an evidence against the need of genetic testing [Goldman et al, 2004;Kovacs et al, 2005]. We and many specialists feel that all parients diagnosed with PrD should be offered genetic counseling and testing for mutations in PRNP, when available.…”

“…Importantly, a positive family history of PrD is found in only 50-75% of patients with gJCD, but this percentage varies greatly depending on the mutation [Kovacs et al, 2005]. In many gPrD cases with a reportedly negative family history of PrD, further inspection will usually uncover a family history of dementia or neuropsychiatric illness, however, that was likely PrD, but had likely been misdiagnosed [Goldman et al, 2004].…”

Familial Creutzfeldt-Jakob Disease Cluster Among an African American Family

“…For persons in families affected by fCJD, genetic counseling can help facilitate informed decision making about genetic testing and family planning options that avoid the risk of passing the variant gene to future generations (ie, nonchildbearing, adoption, sperm or egg donation, in vitro fertilization with preimplantation genetic testing). 9,10…”

Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know

“…The more complicated familial situations reported occurred when the index case was diagnosed while dying and without the whole family realizing the impact of such a diagnosis. Indeed, a case has been reported where after a discussion with the family member, these latters decided they prefer to not know if the index case was genetic or sporadic (Goldman et al, 2004).…”

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature

“…A positive family history is frequently used as a sign of genetically determined disease. About 50% of patients with pathogenic PRNP mutations, however, are seemingly sporadic and have negative family history for prion diseases or other neurodegenerative disorders, and hence absence of family history alone should not be used as an evidence against the need of genetic testing [Goldman et al, 2004;Kovacs et al, 2005]. We and many specialists feel that all parients diagnosed with PrD should be offered genetic counseling and testing for mutations in PRNP, when available.…”

“…Importantly, a positive family history of PrD is found in only 50-75% of patients with gJCD, but this percentage varies greatly depending on the mutation [Kovacs et al, 2005]. In many gPrD cases with a reportedly negative family history of PrD, further inspection will usually uncover a family history of dementia or neuropsychiatric illness, however, that was likely PrD, but had likely been misdiagnosed [Goldman et al, 2004].…”

Familial Creutzfeldt-Jakob Disease Cluster Among an African American Family

“…For persons in families affected by fCJD, genetic counseling can help facilitate informed decision making about genetic testing and family planning options that avoid the risk of passing the variant gene to future generations (ie, nonchildbearing, adoption, sperm or egg donation, in vitro fertilization with preimplantation genetic testing). 9,10…”