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. 2013 Jan-Mar;7(1):66-74.
doi: 10.1590/S1980-57642013DN70100011.

Frontal presentation of Alzheimer's disease: a series of patients with biological evidence by CSF biomarkers

Leonardo Cruz de Souza  1 , Maxime Bertoux  1 , Aurélie Funkiewiez  2 , Dalila Samri  2 , Carole Azuar  1 , Marie-Odile Habert  3 , Aurélie Kas  3 , Foudil Lamari  4 , Marie Sarazin  1 , Bruno Dubois  1
Affiliations

Frontal presentation of Alzheimer's disease: a series of patients with biological evidence by CSF biomarkers

Leonardo Cruz de Souza et al. Dement Neuropsychol. 2013 Jan-Mar.

Abstract
in English, Portuguese

Besides its typical amnesic presentation, focal atypical presentations of Alzheimer's disease (AD) have been described in neuropathological studies. These phenotypical variants of AD (so-called "atypical AD") do not follow the typical amnestic pattern and include non-amnestic focal cortical syndromes, such as posterior cortical atrophy and frontal variant AD. These variants exhibit characteristic histological lesions of Alzheimer pathology at post-mortem exam. By using physiopathological markers, such as cerebrospinal fluid markers, it is now possible to establish in vivo a biological diagnosis of AD in these focal cortical syndromes. We report a series of eight patients who were diagnosed with behavioural variant frontotemporal dementia based on their clinical, neuropsychological and neuroimaging findings, while CSF biomarkers showed an AD biological profile, thus supporting a diagnosis of frontal variant of AD.

Além da típica forma amnésica, apresentações focais atípicas da doença de Alzheimer (DA) foram descritas em estudos anatomopatológicos. Essas variantes fenotípicas da DA ("DA atípica") não seguem o padrão amnésico convencional e incluem síndromes corticais focais não amnésicas, tais como a atrofia cortical posterior e a variante frontal da DA. Essas variantes apresentam lesões histológicas características da DA ao exame patológico post-mortem. O uso de marcadores fisiopatológicos da DA, como os biomarcadores do líquido cefalorraquidiano, permite estabelecer in vivo um diagnóstico biológico de DA nessas síndromes corticais focais. Reportamos uma série de oito pacientes que foram clinicamente diagnosticados como portadores da variante comportamental da demência frontotemporal (de acordo com critérios clínicos, neuropsicológicos e de neuroimagem), mas nos quais a investigação dos biomarcadores do líquor mostrou um perfil biológico de DA, de modo que o diagnóstico da variante frontal de DA foi finalmente estabelecido.

Keywords: Alzheimer's disease; CSF biomarkers; frontotemporal dementia.

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Conflict of interest statement

Disclosure: The authors report no conflicts of interest.

Figures

Figure 1
Figure 1
Brain MRI from patient TA, 48 year-old woman. [A] Axial slice: mild cortical frontal atrophy, predominant in medial regions. [B] Coronal slice: absence of hippocampal atrophy.
Figure 2
Figure 2
Brain scintigraphy (SPECT) from patient TA, 48 year-old woman. [A] Brain SPECT after approximately one year since symptoms onset (May/2010): moderate hypoperfusion in medial and dorsolateral prefrontal cortex, with left predominance; very mild hypoperfusion in the left parietal cortex; no hypoperfusion in medial temporal regions. [B] Brain SPECT approximately two years after symptoms onset (March/2011): severe hypoperfusion in prefrontal cortex (with left predominance); severe hypoperfusion in the left parieto-temporal cortex; mild hypoperfusion in the right parieto-temporal cortex; very mild hypoperfusion in the medial temporal regions.
See this image and copyright information in PMC

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