Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT ge
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LETTER TO THE EDITOR
Open Access
Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype Guoping Peng†, Ping Liu†, Fangping He and Benyan Luo*
Abstract Posterior cortical atrophy (PCA) represents a special clinicoradiologic syndrome characterized by progressive visuospatial and visuoperceptual deficits. PCA and corticobasal syndrome (CBS) may share similar pathogenetic mechanisms. We report the clinical, neuropsychological, imaging, and genetic features of a patient with initial visual problems, who further developed other cognitive impairments and asymmetric extrapyramidal signs fitting into the diagnosis of CBS. Genetic testing revealed homozygous for the T allele of the rs5848 GRN variant. This study provided an evidence for CBS belonging to the clinical spectrum of GRN genetic variant and demonstrated CBS may initially present with symptoms of PCA in rare cases. Keywords: Progranulin, rs5848, Posterior cortical atrophy, Corticobasal syndrome
Correspondence Letters to the Editor: Posterior cortical atrophy (PCA) is a neurodegenerative disorder characterized by progressive visuospatial and visuoperceptual deficits [1]. The dynamics of its progression and clinical outcome are not well known. Pathological studies have shown that Alzheimer’s disease (AD) is the most common underlying etiology of PCA. However, a small number of cases are also reported with other degeneration diseases [2]. The exact genetic basis of PCA remains unclear, however, mutations have been reported in the prion protein gene (PRNP) [3], presenilin 1 and 2 genes (PSEN1 and PSEN2) [4], microtubuleassociated protein tau gene (MAPT) [5], and progranulin gene (GRN) [6], suggesting heterogeneity of its genetic mechanism. Here, we describe a case of a PCA patient with initial visual problems, who developed further cognitive impairments and asymmetric extrapyramidal signs that fitted with a diagnosis of corticobasal syndrome (CBS). * Correspondence: [email protected] † Equal contributors Department of Neurology, First Affiliated Hospital, College of Medicine, Zhejiang University, 79 Qingchun Road, Hangzhou 310003, China
The patient’s initial symptoms were discovered in early 2009 at the age of 52, as it was noted that he took longer time to return home alone than before. He also began to complain of blurred vision, but it did not affect his daily life. Two years later, he began to suffer from progressive spatial disorientation. He was unable to fetch objects with either arm by visual guidance. His memory also began to decline and sometimes he spoke not fluently. In 2012, he exhibited problems in writing simple words, calculating and discerning fingers. He walked more slowly and sometimes exhibited tremor and myoclonus of his upper limbs, especially his right side. In May 2013, he complained of deterioration and difficulty in tracking specific objects in his visual field. He also had difficulty in riding, dressing himself, and distinguishing coats from pants. He urinated any
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