Posterior cortical atrophy in clinical practice

Abstract

AbstractBackgroundA consensus classification framework for posterior cortical atrophy (PCA) was proposed in 2017 to define the core clinico‐pathological syndrome. Main features include a variety of visuospatial deficits associated with posterior cortex dysfunction, together with predominant posterior cortical atrophy. Additional neurological symptoms may be present in what is termed PCA‐plus. Several proteinopathies could be the underlying neuropathology, though in vivo biomarkers only allow for identification of Alzheimer’s disease (AD).MethodWe described the clinical phenotype and biomarkers in a series of patients diagnosed at our memory clinic of PCA (n = 13). Retrospective review of age at onset, family history, cognitive symptoms, neurological deficits, patterns of brain atrophy in MRI, AD biomarkers in CSF, and available genetic analyses.ResultThere were eight women and five men; five had a family history of dementia (Goldman score 3.5) while eight were apparently sporadic cases. Age at onset of symptoms ranged from 30 to 75 years (median 66) and first neurological consultation was 1 to 2 years later, though both psychiatrists and ophthalmologists had already evaluated 46% of the cases. Diagnosis of PCA was established between 5 months and 5 years (mean 2 years) of first assessment. Brain atrophy was parieto‐occipital in 11 cases and temporo‐parietal in two (bilateral in seven, left predominant in four and right in two). Three cases had a PCA‐plus syndrome, one with parkinsonism an another two with CBD features. Five cases (including one with CBD) had AD CSF biomarkers studied, all with an A+T+N+ pattern. APOE was available in eight cases, five carried ε3/ε3 and three ε3/ε4 alleles. The patient with younger onset carried a PSEN1 pathogenic mutation (p.Pro436Gln). Three cases had C9orf72 expansion and plasma progranulin levels analyzed with negative results. Most cases were dependent for activities of daily living after five years of evolution.ConclusionThis series further contributes to the characterization of the clinical heterogeneity of PCA. Anxiety and depression are common in early stages of the disease. Biomarkers are usually consistent with AD.