{"title":"A new <i>GRN</i> variant in logopenic variant primary progressive aphasia: a case report and literature review.","authors":"Sha-Sha Jia, Pu-Lei Li, Ping Gao, Ye Jiang, Cheng-Liang Zhang, Wen-Wei Yun","doi":"10.1080/13554794.2024.2436215","DOIUrl":null,"url":null,"abstract":"<p><p>The majority of genetic Primary progressive aphasia (PPA) patients harbor mutations in the granulin (<i>GRN</i>) gene. The present case showed impaired performances in single-word retrieval in spontaneous speech and naming, and repetition. Head MRI revealed marked lateral atrophy in the left parietal cortex. A diagnosis of logopenic variant PPA (lvPPA) was established. Genetic analysis showed a heterozygous 10-bp frameshift deletion in exon 4 of the <i>GRN</i> gene (NM_002087.4), leading to transformation of cysteine into alanine at amino acid 92 and creation of a premature stop codon at position 161. This patient represented a rare case of <i>GRN</i>-associated lvPPA. A new mutation site was detected in exon 4 of <i>GRN</i> gene.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-6"},"PeriodicalIF":0.6000,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurocase","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/13554794.2024.2436215","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
The majority of genetic Primary progressive aphasia (PPA) patients harbor mutations in the granulin (GRN) gene. The present case showed impaired performances in single-word retrieval in spontaneous speech and naming, and repetition. Head MRI revealed marked lateral atrophy in the left parietal cortex. A diagnosis of logopenic variant PPA (lvPPA) was established. Genetic analysis showed a heterozygous 10-bp frameshift deletion in exon 4 of the GRN gene (NM_002087.4), leading to transformation of cysteine into alanine at amino acid 92 and creation of a premature stop codon at position 161. This patient represented a rare case of GRN-associated lvPPA. A new mutation site was detected in exon 4 of GRN gene.
期刊介绍：
Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.
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