Schizophrenia or Neurodegenerative Disease Prodrome? Outcome of a First Psychotic Episode in a 35-Year-Old Woman

Memory and Aging Center, Department of Neurology, University of California San Francisco, San Francisco, CA, USA.
Psychosomatics (Impact Factor: 1.86). 01/2012; 53(3):280-4. DOI: 10.1016/j.psym.2011.04.005
Source: PubMed


C ontrary to common clinical assumptions, neurode-generative disease can begin as early as the third decade of life, and some of these young patients present with isolated neuropsychiatric rather than cognitive symp-toms. These cases can exemplify the diagnostic overlap between psychiatric and neurological disease, as well as the procedural gaps that sometimes occur between psychi-atric and neurological clinical services. While technically these patients present with a psychiatric disorder, the cause of their symptoms is a specific neuropathologic disease that in many cases may be identifiable by genetic testing or a careful family history. Symptomatic and even disease-modifying treatments for some of these neurodegenerative diseases are currently in clinical trials and, thus, it is becoming increasingly urgent that clinicians recognize these "zebras" early in the disease process. Retrospective examination of these patients' clinical course may yield important information to improve diagnostic accuracy in the future. We report the case of a young woman who was initially diagnosed with schizophrenia in her 30s, but was found to have a rare genetic mutation in a -related gene, which together with a specific pattern of brain atrophy, pre-dict a 3R -opathy, i.e., frontotemporal lobar degeneration (FTLD) with Pick's neuropathology. 1 This suggests that the more appropriate clinical diagnosis for this patient was be-havioral variant frontotemporal dementia (bvFTD), a diag-nosis that could have led to an entirely different clinical care plan.

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Available from: Joshua D Woolley, Apr 25, 2014
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    • "Johnson and colleagues reported psychotic features in one patient with a valosin-containing protein gene VCP mutation [34]. Psychosis has only infrequently been reported in families with microtubule-associated protein tau gene MAPT mutations [35,36]. "
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