Atypical Symptoms in Familial Alzheimer’s Partly Determined by Mutation Type, Study Finds

Atypical Symptoms in Familial Alzheimer’s Partly Determined by Mutation Type, Study Finds
The mutated gene, as well as the position of the mutation within a gene, impact the kind of symptoms patients with dominantly inherited Alzheimer’s disease develop, according to new research. These findings also underscored the notion that familial Alzheimer’s is a highly variable condition, making genetic testing a crucial component when examining young people with dementia and other neurological symptoms. The study, "Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series," recently appeared in the journal The Lancet Neurology. Mutations in the genes PSEN1, PSEN2, and APP cause an inherited form of Alzheimer’s disease in a small proportion of patients. Scientists know that, much like patients with sporadic forms of the condition, dominantly inherited Alzheimer’s patients often have cognitive symptoms other than memory impairment. Not much is known about factors that may determine if a patient is likely to develop a particular symptom, however. Researchers from University College London decided to explore such factors in patients treated at the Dementia Research Centre in London. The research team analyzed data retrospectively, including patients with familial Alzheimer’s caused by mutations in the genes APP and PSEN1, and treated at the center between July 1, 1987, and Oct. 31, 2015. Information about the age of symptom onset was available for 213 people, and 121 had detailed information that inclu
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