Pub Date : 2025-01-09DOI: 10.1080/01677063.2024.2440395
Leah Holm-Mercer, Thomas Coysh, Tze How Mok, Peter Rudge, Zita Reisz, Claire Troakes, Safa Al-Sarraj, Tracy Campbell, Laszlo L P Hosszu, Jan Bieschke, Fuquan Zhang, Jonathan D F Wadsworth, Colin Smith, Jenna Jenkinson, Timothy Rittman, Sebastian Brandner, Zane Jaunmuktane, John Collinge, Simon Mead
Inherited prion diseases (IPD) secondary to mutations of the prion protein gene, PRNP, exhibit diverse clinical phenotypes, capable of mimicking numerous primary neurodegenerative conditions. We describe the clinical phenotype and neuropathological findings in a family from County Limerick in Ireland presenting with Alzheimer's disease-like cognitive decline and motor symptoms caused by a novel missense mutation of PRNP. This mutation occurs in the PRNP central lysine cluster (CLC; codon 101-110), resulting in substitution of threonine with isoleucine at codon 107 (T107I). This case series highlights that IPD can be hard to distinguish from overlapping clinical syndromes seen in other neurodegenerative diseases. We also discuss similarities and differences of the novel mutation T107I to other pathogenic mutations of the CLC of PRNP.
{"title":"The novel T107I Inherited prion disease can present as a clinical and biomarker mimic of familial Alzheimer's disease.","authors":"Leah Holm-Mercer, Thomas Coysh, Tze How Mok, Peter Rudge, Zita Reisz, Claire Troakes, Safa Al-Sarraj, Tracy Campbell, Laszlo L P Hosszu, Jan Bieschke, Fuquan Zhang, Jonathan D F Wadsworth, Colin Smith, Jenna Jenkinson, Timothy Rittman, Sebastian Brandner, Zane Jaunmuktane, John Collinge, Simon Mead","doi":"10.1080/01677063.2024.2440395","DOIUrl":"https://doi.org/10.1080/01677063.2024.2440395","url":null,"abstract":"<p><p>Inherited prion diseases (IPD) secondary to mutations of the prion protein gene, <i>PRNP,</i> exhibit diverse clinical phenotypes, capable of mimicking numerous primary neurodegenerative conditions. We describe the clinical phenotype and neuropathological findings in a family from County Limerick in Ireland presenting with Alzheimer's disease-like cognitive decline and motor symptoms caused by a novel missense mutation of <i>PRNP.</i> This mutation occurs in the <i>PRNP</i> central lysine cluster (CLC; codon 101-110), resulting in substitution of threonine with isoleucine at codon 107 (T107I). This case series highlights that IPD can be hard to distinguish from overlapping clinical syndromes seen in other neurodegenerative diseases. We also discuss similarities and differences of the novel mutation T107I to other pathogenic mutations of the CLC of <i>PRNP</i>.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-7"},"PeriodicalIF":1.8,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-02DOI: 10.1080/01677063.2024.2419107
Randall Shortridge
{"title":"Enthusiasm meets opportunity: in memoriam of William L. Pak, 1932-2023.","authors":"Randall Shortridge","doi":"10.1080/01677063.2024.2419107","DOIUrl":"https://doi.org/10.1080/01677063.2024.2419107","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-2"},"PeriodicalIF":1.8,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-06-19DOI: 10.1080/01677063.2024.2335146
Baruch Minke
{"title":"The pioneering use of the PDA phenotype by Bill Pak for screening a network of phototransduction genes and the associated signaling pathways.","authors":"Baruch Minke","doi":"10.1080/01677063.2024.2335146","DOIUrl":"10.1080/01677063.2024.2335146","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"150-156"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141419576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-06-24DOI: 10.1080/01677063.2024.2366455
Paulo A Ferreira
The neurogenetics and vision community recently mourned William L. Pak, PhD, whose pioneering work spearheaded the genetic, electrophysiological, and molecular bases of biological processes underpinning vision. This essay provides a historical background to the daunting challenges and personal experiences that carved the path to seminal findings. It also reflects on the intellectual framework, mentoring philosophy, and inspirational legacy of Bill Pak's research. An emphasis and perspectives are placed on the discoveries and implications to date of the phosphatidylinositol-specific phospholipase C (PI-PLC), NorpA, and the cyclophilin, NinaA of the fruit fly, Drosophila melanogaster, and their respective mammalian homologues, PI-PLCβ4, and cyclophilin-related protein, Ran-binding protein 2 (Ranbp2) in critical biological processes and diseases of photoreceptors and other neurons.
神经遗传学和视觉学界最近悼念了威廉-L-帕克（William L. Pak）博士，他的开创性工作是视觉生物过程的遗传学、电生理学和分子基础的先驱。这篇文章介绍了白威廉在取得开创性发现的道路上所面临的艰巨挑战和个人经历的历史背景。文章还反思了比尔-帕克研究的知识框架、指导理念和鼓舞人心的遗产。文章重点论述了迄今为止发现的磷脂酰肌醇特异性磷脂酶 C（P IP LC）、NorpA 和环纤蛋白、果蝇的 NinaA 以及它们各自的哺乳动物同源物 P I-P LCβ4 和环纤蛋白相关蛋白 Ran 结合蛋白 2（Ranbp2）在感光器和其他神经元的关键生物过程和疾病中的作用和影响。
{"title":"Personal essay of a rookie's journey with Bill Pak and his legacy: tales and perspectives on PI-PLC, NorpA and cyclophilin, NinaA - William L. Pak, PhD., 1932-2023: in memoriam.","authors":"Paulo A Ferreira","doi":"10.1080/01677063.2024.2366455","DOIUrl":"10.1080/01677063.2024.2366455","url":null,"abstract":"<p><p>The neurogenetics and vision community recently mourned William L. Pak, PhD, whose pioneering work spearheaded the genetic, electrophysiological, and molecular bases of biological processes underpinning vision. This essay provides a historical background to the daunting challenges and personal experiences that carved the path to seminal findings. It also reflects on the intellectual framework, mentoring philosophy, and inspirational legacy of Bill Pak's research. An emphasis and perspectives are placed on the discoveries and implications to date of the phosphatidylinositol-specific phospholipase C (PI-PLC), NorpA, and the cyclophilin, NinaA of the fruit fly, <i>Drosophila melanogaster</i>, and their respective mammalian homologues, PI-PLCβ4, and cyclophilin-related protein, Ran-binding protein 2 (Ranbp2) in critical biological processes and diseases of photoreceptors and other neurons.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"165-174"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-07-22DOI: 10.1080/01677063.2024.2380297
Barry Ganetzky
{"title":"A tribute to Bill Pak, unsung hero of neurogenetics.","authors":"Barry Ganetzky","doi":"10.1080/01677063.2024.2380297","DOIUrl":"10.1080/01677063.2024.2380297","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"145-149"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141748442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-12-30DOI: 10.1080/01677063.2024.2448092
Chun-Fang Wu
{"title":"Tribute to Dr. William L. Pak and the origins of the Cold Spring Harbor summer course on <i>Drosophila</i> neurobiology.","authors":"Chun-Fang Wu","doi":"10.1080/01677063.2024.2448092","DOIUrl":"https://doi.org/10.1080/01677063.2024.2448092","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"38 4","pages":"135"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-11-04DOI: 10.1080/01677063.2024.2393315
W L Pak
{"title":"The initial years of the Cold Spring Harbor Laboratory summer course on the neurobiology of <i>Drosophila</i>.","authors":"W L Pak","doi":"10.1080/01677063.2024.2393315","DOIUrl":"10.1080/01677063.2024.2393315","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"136-139"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-09-02DOI: 10.1080/01677063.2024.2393884
Ralph J Greenspan
{"title":"Memoir of the early years of the CSHL summer <i>Drosophila</i> neurobiology course: 1984-1985.","authors":"Ralph J Greenspan","doi":"10.1080/01677063.2024.2393884","DOIUrl":"10.1080/01677063.2024.2393884","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"140-143"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-07-08DOI: 10.1080/01677063.2024.2374054
Martin G Burg
{"title":"Bill Pak: reflections on mentoring.","authors":"Martin G Burg","doi":"10.1080/01677063.2024.2374054","DOIUrl":"10.1080/01677063.2024.2374054","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"175-177"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-11-26DOI: 10.1080/01677063.2024.2428949
Dora Varvara, Serena Lattante, Stefania Magri, Francesca Balistreri, Francesca De Razza, Franco Taroni, Salvatore Mauro
Genetic variants in GARS1 gene, encoding for the glycyl tRNA synthetase 1, cause Charcot-Marie-Tooth disease, type 2D (CMT2D). Here we describe a 14-year-old boy affected by neuropathy with prominent weakness in the upper extremities carrying two in cis missense variants in GARS1 gene: the c.803C > T, p.Thr268Ile and the c.842T > A, p.Met281Lys. The mutated allele segregates in affected member of the family, thus supporting its pathogenic role. Although a combined role of these variants cannot be excluded, we suggest a strong association of the variant c.842T > A (p.Met281Lys), never reported in patients neither in controls, with the disease. In Italian patients, pathogenic variants in GARS1 are very rare, so our result expands the mutational spectrum of the gene and the genetic epidemiology of CMT2D.
{"title":"A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in <i>GARS1</i>.","authors":"Dora Varvara, Serena Lattante, Stefania Magri, Francesca Balistreri, Francesca De Razza, Franco Taroni, Salvatore Mauro","doi":"10.1080/01677063.2024.2428949","DOIUrl":"10.1080/01677063.2024.2428949","url":null,"abstract":"<p><p>Genetic variants in <i>GARS1</i> gene, encoding for the glycyl tRNA synthetase 1, cause Charcot-Marie-Tooth disease, type 2D (CMT2D). Here we describe a 14-year-old boy affected by neuropathy with prominent weakness in the upper extremities carrying two <i>in cis</i> missense variants in <i>GARS1</i> gene: the c.803C > T, p.Thr268Ile and the c.842T > A, p.Met281Lys. The mutated allele segregates in affected member of the family, thus supporting its pathogenic role. Although a combined role of these variants cannot be excluded, we suggest a strong association of the variant c.842T > A (p.Met281Lys), never reported in patients neither in controls, with the disease. In Italian patients, pathogenic variants in <i>GARS1</i> are very rare, so our result expands the mutational spectrum of the gene and the genetic epidemiology of CMT2D.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"184-186"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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