Poster C58, Sunday, March 25, 1:00-3:00 pm, Exhibit Hall C
Phenotypic expression of presenilin 1 p.Gly206Ala autosomal dominant Alzheimer’s disease
Evin Bender1, Maya Lichtenstein1; 1Geisinger Health System
This case presentation describes the phenotypic expression of a Presenilin-1 gene mutation resulting in a glycine-alanine substitution (p.Gly206Ala) for autosomal dominant Alzheimer’s disease (AD), which has not previously been detailed in the literature. Our patient is a 56 year old woman with a family history of early onset dementia who presented with symptoms of behavioral changes including an initial 100 pound weight loss followed by hyperorality, disinhibition, apathy, disturbing visual hallucinations, restlessness and memory changes. Symptoms began two years prior and were initially attributed to depression. Methods for this case include review of history, neurological examination, imaging, CSF and genetic testing. Neurological examination was significant for redirectable lability, difficulty maintaining adequate attention, cognitive deficits across domains, and lack of parkinsonian features with otherwise normal examination. Brain MRI showed bilateral amygdala and hippocampal hyperintensities; repeat MRI 1 week later showed resolution. Autoimmune/paraneoplastic testing was negative; CSF was compatible with Alzheimer’s disease. Genetic testing revealed a presenilin-1 gene mutation, which has been described in Caribbean Hispanic families. It has been suggested to present with psychiatric features, which have not previously been described in detail. In summation, this patient presented with early dramatic neuropsychiatric changes, followed by cognitive decline including attention, memory and disorientation, and MRI concerning for an autoimmune process. She was found to have a Presenilin-1 mutation (p.Gly206Ala) for autosomal dominant AD. The phenotype for this mutation has not previously been described in the literature. Clinicians should be aware of AD “masquerading” as psychiatric disease, frontotemporal dementia or an autoimmune process.
Topic Area: LONG-TERM MEMORY: Development & aging