A Case of Logopenic Primary Progressive Aphasia with C9ORF72 Expansion and Cortical Florbetapir Binding

作者：Saint Aubert Laure^*; Sagot Catherine; Wallon David; Hannequin Didier; Payoux Pierre; Nemmi Federico; Bezy Catherine; Chauveau Nicolas; Campion Dominique; Puel Michele; Chollet Francois; Pariente Jeremie

来源：Journal of Alzheimer's Disease, 2014, 42(2): 413-420.

DOI：10.3233/JAD-140222

• Alzheimer%26apos
• s disease
• C9ORF72 expansion
• florbetapir
• logopenic primary aphasia

We report the case of a 65-year-old woman, clinically diagnosed with the logopenic variant of primary progressive aphasia (PPA), and carrier of C9ORF72 expansion, despite cerebrospinal fluid biomarkers suggesting Alzheimer%26apos;s disease (AD). She underwent structural MRI, metabolic PET, and amyloid PET imaging using florbetapir. Comparison with healthy controls revealed widespread hypometabolism, left sided cortical atrophy, and an increased cortical amyloid load. No difference in amyloid binding was found between the patient and predemential AD patients. This case provides evidence of amyloidopathy in a carrier of C9ORF72 expansion exhibiting a clinical profile of the logopenic variant of PPA.

• 出版日期2014