{"title":"一种新的DHTKD1基因突变伴ALS样表现:病例报告。","authors":"Deepak Menon, Saraswati Nashi, Manisha Mohanty, Rohin Dubbal, Farsana Mk, Seena Vengalil, Aneesha Thomas, Vijay Kumar, Dipti Baskar, Gautham Arunachal, Atchayaram Nalini","doi":"10.1080/21678421.2023.2273366","DOIUrl":null,"url":null,"abstract":"<p><p>DHTKD1 is a nuclear gene that encodes \"dehydrogenase E1 and transketolase domain-containing 1\", essential in mitochondrial metabolism. First identified in the patients of 2-amino-apidic and 2 oxoapidic aciduria, mutation in this gene has recently been implicated in CMT2Q and ALS. Here we report the case of a septuagenarian who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical exome sequencing revealed a heterozygous nonsense variant in exon 8 of the <i>DHTKD1</i> gene, which was previously described in CMT2Q. This report highlights the pleotropic phenotypic presentation of <i>DHTKD1</i> mutation and the need for genetic testing even in sporadic cases of ALS presenting at a later age.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A novel DHTKD1 gene mutation with ALS like presentation: a case report.\",\"authors\":\"Deepak Menon, Saraswati Nashi, Manisha Mohanty, Rohin Dubbal, Farsana Mk, Seena Vengalil, Aneesha Thomas, Vijay Kumar, Dipti Baskar, Gautham Arunachal, Atchayaram Nalini\",\"doi\":\"10.1080/21678421.2023.2273366\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>DHTKD1 is a nuclear gene that encodes \\\"dehydrogenase E1 and transketolase domain-containing 1\\\", essential in mitochondrial metabolism. First identified in the patients of 2-amino-apidic and 2 oxoapidic aciduria, mutation in this gene has recently been implicated in CMT2Q and ALS. Here we report the case of a septuagenarian who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical exome sequencing revealed a heterozygous nonsense variant in exon 8 of the <i>DHTKD1</i> gene, which was previously described in CMT2Q. This report highlights the pleotropic phenotypic presentation of <i>DHTKD1</i> mutation and the need for genetic testing even in sporadic cases of ALS presenting at a later age.</p>\",\"PeriodicalId\":72184,\"journal\":{\"name\":\"Amyotrophic lateral sclerosis & frontotemporal degeneration\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Amyotrophic lateral sclerosis & frontotemporal degeneration\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1080/21678421.2023.2273366\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/10/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Amyotrophic lateral sclerosis & frontotemporal degeneration","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/21678421.2023.2273366","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/10/25 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
A novel DHTKD1 gene mutation with ALS like presentation: a case report.
DHTKD1 is a nuclear gene that encodes "dehydrogenase E1 and transketolase domain-containing 1", essential in mitochondrial metabolism. First identified in the patients of 2-amino-apidic and 2 oxoapidic aciduria, mutation in this gene has recently been implicated in CMT2Q and ALS. Here we report the case of a septuagenarian who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical exome sequencing revealed a heterozygous nonsense variant in exon 8 of the DHTKD1 gene, which was previously described in CMT2Q. This report highlights the pleotropic phenotypic presentation of DHTKD1 mutation and the need for genetic testing even in sporadic cases of ALS presenting at a later age.