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April 19, 2011; 76 (16) Clinical/Scientific Notes

Presenilin-1 mutation associated with amnesia, ataxia, and medial temporal lobe T2 signal changes

Tobias C. Langheinrich, Charles A.J. Romanowski, Stephen Wharton, Marios Hadjivassiliou
First published April 18, 2011, DOI: https://doi.org/10.1212/WNL.0b013e318216eb5f
Tobias C. Langheinrich
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Charles A.J. Romanowski
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Stephen Wharton
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Marios Hadjivassiliou
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Presenilin-1 mutation associated with amnesia, ataxia, and medial temporal lobe T2 signal changes
Tobias C. Langheinrich, Charles A.J. Romanowski, Stephen Wharton, Marios Hadjivassiliou
Neurology Apr 2011, 76 (16) 1435-1436; DOI: 10.1212/WNL.0b013e318216eb5f

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This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.

In the correct clinical context, an important cause of medial temporal MRI signal abnormality is herpes simplex encephalitis. In more subacute presentations, autoimmune or paraneoplastic limbic encephalitis are common etiologies. We present a man with subacute onset of memory impairment and gait ataxia whose MRI was suggestive of limbic encephalitis. After exclusion of infectious causes, immunosuppression was started. He eventually proved to have Alzheimer disease (AD) due to the S170F mutation in the presenilin 1 (PS-1) gene.

Case report.

A 34-year-old welder presented to our neurology department with memory impairment and unsteadiness. His work colleagues reported a few months' history of frequently loosing his tools and difficulties with his balance.

When examined he was disorientated in time and he had no recall of a name and address after a 5-minute delay. There was head titubation, truncal, mild finger-nose, and gait ataxia. Diadochokinesis was poor bilaterally. Otherwise the examination was normal.

MRI showed generalized cerebral (figure e-1 on the Neurology® Web site at www.neurology.org) and cerebellar atrophy, increased signal from both hippocampi and amygdalae …

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