Neuroradiological findings in the northern epilepsy syndrome

Hirvasniemi, Aune; Karumo, J.

doi:10.1111/j.1600-0404.1994.tb02746.x

Cited by 12 publications

(3 citation statements)

References 17 publications

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“…The CLN8 gene encodes a transmembrane protein of unknown function whose ER-Golgi intracellular location is inferred from confocal immunofluorescence microscopy of transiently transfected BHK cells (Lonka, Kyttälä, Ranta, Jalanko, & Lehesjoki, 2000). Two distinct mutations in the CLN8 gene have been shown to result in mutationspecific phenotypes -juvenile-onset progressive epilepsy with mental retardation (EPMR, (Hirvasniemi, Herrala, & Leisti, 1995;Hirvasniemi & Karumo, 1994;Hirvasniemi, Lang, Lehesjoki, & Leisti, 1994) and a more severe late variant NCL with pathological similarities to CLN5-, CLN6-, and CLN7-disease (Cannelli et al, 2006;Haltia, Herva, Suopanki, Baumann, & Tyynelä, 2001; Herva, Tyynelä, F I G U R E 9 Expression of CLN3 in human tissues according to the Gene Atlas data set (Su et al, 2004;Wu et al, 2009) Hirvasniemi, Syrjäkallio-Ylitalo, & Haltia, 2000;Ranta, Hirvasniemi, Herva, Haltia, & Lehesjoki, 2002;Ranta, Savukoski, Santavuori, & Haltia, 2001;Ranta et al, 2004;Vantaggiato et al, 2009). Expression of CLN3 cDNA in CLN8-deficient mouse fibroblasts reduced the aberrant cellular growth of these cells.…”

Section: Interaction With Cln8mentioning

confidence: 99%

The CLN3 gene and protein: What we know

Mirza¹,

Vainshtein

DiRonza

et al. 2019

Molec Gen & Gen Med

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Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental understanding of the CLN3 gene, its regulation, gene product, protein structure, tissue distribution, biomarker use, and pathological responses to its deficiency, lays the groundwork for determining therapeutic action plans. Objectives To present an unbiased comprehensive reference tool of the experimental understanding of the CLN3 gene and gene product of the same name. Methods BBDF compiled all of the available CLN3 gene and protein data from biological databases, repositories of federally and privately funded projects, patent and trademark offices, science and technology journals, industrial drug and pipeline reports as well as clinical trial reports and with painstaking precision, validated the information together with experts in Batten disease, lysosomal storage disease, lysosome/endosome biology. Results The finished product is an indexed review of the CLN3 gene and protein which is not limited in page size or number of references, references all available primary experiments, and does not draw conclusions for the reader. Conclusions Revisiting the experimental history of a target gene and its product ensures that inaccuracies and contradictions come to light, long‐held beliefs and assumptions continue to be challenged, and information that was previously deemed inconsequential gets a second look. Compiling the information into one manuscript with all appropriate primary references provides quick clues to which studies have been completed under which conditions and what information has been reported. This compendium does not seek to replace original articles or subtopic reviews but provides an historical roadmap to completed works.

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Section: Interaction With Cln8mentioning

confidence: 99%

The CLN3 gene and protein: What we know

Mirza¹,

Vainshtein

DiRonza

et al. 2019

Molec Gen & Gen Med

View full text Add to dashboard Cite

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“…Therefore, the adolescence-onset clinical HOGA manifestation can be delayed by a rigorous arginine-restricted diet, since this amino acid is the main source of ornithine. Several of the human variants have only been studied in patient-derived cells, human cell lines or in yeast [147][148][149]. In addition, there are two mouse models available for studying the function of the Oat and HOGA disease: a full KO line (Oat tm1Dva ) and a mouse line with a spontaneous recessive mutation, called retarded hair growth (Oat rhg ), that harbors glycine-353 to alanine (G353A) substitution in OAT protein [150].…”

Section: Hyperornithinemia With Gyrate Atrophy Of the Choroid And Retina (Hoga)mentioning

confidence: 99%

“…Other features associated with Northern epilepsy are pubertal behavioral difficulties as well as problems in fine motor tasks and equilibrium [153]. Progressive brain atrophy [147] and the accumulation of lipopigment in the cytoplasm of neurons and other cell types are observed at the tissue level [152].…”

Section: Northern Epilepsy (Epmr)mentioning

confidence: 99%

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Zárybnický

Heikkinen

Kangas

et al. 2021

Cells

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The modification of genes in animal models has evidently and comprehensively improved our knowledge on proteins and signaling pathways in human physiology and pathology. In this review, we discuss almost 40 monogenic rare diseases that are enriched in the Finnish population and defined as the Finnish disease heritage (FDH). We will highlight how gene-modified mouse models have greatly facilitated the understanding of the pathological manifestations of these diseases and how some of the diseases still lack proper models. We urge the establishment of subsequent international consortiums to cooperatively plan and carry out future human disease modeling strategies. Detailed information on disease mechanisms brings along broader understanding of the molecular pathways they act along both parallel and transverse to the proteins affected in rare diseases, therefore also aiding understanding of common disease pathologies.

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Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy

et al. 2016

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Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual impairment, and premature death. Based on the country of origin of the patients, the clinical features/courses, and the molecular genetics background of the disorder, 14 distinct NCL subtypes have been described to date. CLN8 mutation was first identified in Finnish patients, and the condition was named Northern Epilepsy (NE); however, the severe phenotype of the CLN8 gene was subsequently found outside Finland and named 'variant late-infantile' NCL. In this study, five patients and their six healthy relatives from a large Turkish consanguineous family were enrolled. The study involved detailed clinical, radiological and molecular genetic evaluations. Whole-exome sequencing and homozygosity mapping revealed a novel homozygous CLN8 mutation, c.677T>C (p.Leu226Pro). We defined NE cases in Turkey, caused by a novel mutation in CLN8. WES can be an important diagnostic method in rare cases with atypical courses.

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Neuroradiological findings in the northern epilepsy syndrome

Cited by 12 publications

References 17 publications

The CLN3 gene and protein: What we know

The CLN3 gene and protein: What we know

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy

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