We report the first known case in Israel of a patient with an early childhood onset of ceroid-lipofuscinosis who is homozygous to a mutation of the CLN8 gene. This patient further expands the clinical varieties of CLN8, initially reported in Finland and Turkey and recently in Italy. The ultrastructural pathology of a skin biopsy specimen revealed abundant typical fingerprint profiles, but rare granular osmiophilic bodies and curvilinear structures. Sequencing of exon 3 of the CLN8 gene revealed a novel C>G missense mutation at a conserved amino acid glutamine 256 to glutamic acid. Our findings further raise the possibility of the existence of a Mediterranean CLN8 variant.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.pediatrneurol.2007.01.008 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Two compound heterozygous variants in the gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.
Front Pediatr
May 2024
Departamento de Genética, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.
Background: Neuronal Ceroid Lipofuscinosis (NCL) disorders, recognized as the primary cause of childhood dementia globally, constitute a spectrum of genetic abnormalities. CLN8, a subtype within NCL, is characterized by cognitive decline, motor impairment, and visual deterioration. This study focuses on an atypical case with congenital onset and a remarkably slow disease progression.
View Article and Find Full Text PDFMitochondria-related chemoradiotherapy resistance genes-based machine learning model associated with immune cell infiltration on the prognosis of esophageal cancer and its value in pan-cancer.
Transl Oncol
April 2024
Department of Pathology, Xiang-ya Hospital, Central South University, Changsha City, Hunan Province, China; Department of Pathology, School of Basic Medicine, Central South University, Changsha City, Hunan Province, China; Ultrapathology (Biomedical Electron Microscopy) Center, Department of Pathology, Xiang-ya Hospital, Central South University, Changsha City, Hunan Province, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China. Electronic address:
Esophageal cancer, known for its high incidence and low five-year survival rate, poses significant treatment challenges. A key aspect of this challenge is the close link between mitochondria and resistance to chemoradiotherapy (CRT). Currently, there is a scarcity of biomarkers for predicting CRT response and prognosis in esophageal cancer.
View Article and Find Full Text PDFThe involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.
Neurobiol Dis
September 2023
Department Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy. Electronic address:
The progressive myoclonic epilepsies (PMEs) are a group of rare neurodegenerative diseases characterized by myoclonus, epileptic seizures, and progressive neurological deterioration with cerebellar involvement. They include storage diseases like Gaucher disease, Lafora disease, and forms of neuronal ceroid lipofuscinosis (NCL). To date, 13 NCLs have been reported (CLN1-CLN8, CLN10-CLN14), associated with mutations in different genes.
View Article and Find Full Text PDFMulti-Omics Data Analysis Identifies Prognostic Biomarkers across Cancers.
Med Sci (Basel)
June 2023
Department of Computer Engineering, Faculty of Engineering, Dokuz Eylul University, Izmir 35390, Turkey.
Combining omics data from different layers using integrative methods provides a better understanding of the biology of a complex disease such as cancer. The discovery of biomarkers related to cancer development or prognosis helps to find more effective treatment options. This study integrates multi-omics data of different cancer types with a network-based approach to explore common gene modules among different tumors by running community detection methods on the integrated network.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!