J S Goldman
Affiliation: University of California
- When sporadic disease is not sporadic: the potential for genetic etiologyJill S Goldman
University of California, Memory and Aging Center, San Francisco 94143 1207, USA
Arch Neurol 61:213-6. 2004..Approximately 2% of Alzheimer disease cases and 10% to 15% of prion disease cases are due to mutations in autosomal dominant genes. Mutations have been found in patients without family histories of neurological disease...
- Frontotemporal dementia: genetics and genetic counseling dilemmasJill S Goldman
Memory and Aging Center, University of California, San Francisco, Department of Neurology, San Francisco, California 94143 1207, USA
Neurologist 10:227-34. 2004..The objective of this paper is to enable physicians to recognize hereditary patterns and genetic concerns of FTD families and to understand genetic counseling strategies...
- Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutationJill S Goldman
UCSF Memory and Aging Center, San Francisco, CA 94143, USA
Int J Geriatr Psychiatry 17:649-51. 2002..Early-onset familial Alzheimer's disease (EOFAD) is linked to mutations in three autosomal dominant genes: PS1, PS2 and APP. The clinical presentation and age of onset of mutations is variable...
- Early-onset Alzheimer disease: when is genetic testing appropriate?Jill S Goldman
University of California, San Francisco Memory and Aging Center, 94143 1207, USA
Alzheimer Dis Assoc Disord 18:65-7. 2004..However, many practical and ethical issues must be considered before ordering this test for patients with early-onset AD. In this paper, we present a case that demonstrates the complexities of genetic testing for early-onset AD...
- Presenilin 1 Glu318Gly polymorphism: interpret with cautionJill S Goldman
Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA 94143 1207, USA
Arch Neurol 62:1624-7. 2005..When this polymorphism is found in a symptomatic person with a family history of dementia, counseling on recurrence risk becomes very problematic...
- Comparison of family histories in FTLD subtypes and related tauopathiesJ S Goldman
Memory and Aging Center, University of California, San Francisco, CA 94117, USA
Neurology 65:1817-9. 2005..FTD/ALS was the most and SD the least heritable subtype. FTLD syndromes appear to have different etiologies and recurrence risks...
- New genes, new dilemmas: FTLD genetics and its implications for familiesJill S Goldman
Sergievsky Center and Taub Institute, Columbia University, New York, NY 10036, USA
Am J Alzheimers Dis Other Demen 22:507-15. 2007..The aims of this article are to describe the genetics of the FTLD spectrum and aid in the genetic counseling of individuals who may carry genetic mutations...
- Genetic research and genetic testing in Alzheimer's disease: a view from the bridgeJennifer Williamson
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Columbia Huntington s Disease Center of Excellence, New York, NY, USA
Nat Clin Pract Neurol 3:356-7. 2007