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Bradley Peter, Christie L Waddington, Monika Oláhová, Ewen W Sommerville, Sila Hopton, Angela Pyle, Michael Champion, Monika Ohlson, Triinu Siibak, Zofia M A Chrzanowska-Lightowlers, Robert W Taylor, Maria Falkenberg, Robert N Lightowlers
LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively-inherited, pathogenic defects in LonP1 have been previously reported to underlie cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome, a complex multisystemic and developmental disorder. Intriguingly, although classical mitochondrial disease presentations are well-known to exhibit marked clinical heterogeneity, the skeletal and dental features associated with CODAS syndrome are pathognomonic...
March 6, 2018: Human Molecular Genetics
Julie Gauthier, Inge A Meijer, Davor Lessel, Niccolò E Mencacci, Dimitri Krainc, Maja Hempel, Konstantinos Tsiakas, Holger Prokisch, Elsa Rossignol, Margaret H Helm, Lance H Rodan, Jason Karamchandani, Miryam Carecchio, Steven J Lubbe, Aida Telegrafi, Lindsay B Henderson, Kerry Lorenzo, Stephanie E Wallace, Ian A Glass, Fadi F Hamdan, Jacques L Michaud, Guy A Rouleau, Philippe M Campeau
VPS13 protein family members, VPS13A through VPS13C, have been associated with various recessive movement disorders. We describe the first disease association of rare recessive VPS13D variants including a frameshift, missense and a partial duplication with a novel complex, hyperkinetic neurological disorder. The clinical features include developmental delay, a childhood onset movement disorder (chorea, dystonia or tremor) and progressive spastic ataxia or paraparesis. Characteristic brain MRI shows basal ganglia or diffuse white matter T2 hyperintensities as seen in Leigh syndrome and chorea-acanthocytosis...
March 8, 2018: Annals of Neurology
Mike Gerards, Rick Kamps, Jo van Oevelen, Iris Boesten, Eveline Jongen, Bart de Koning, Hans R Scholte, Isabel de Angst, Kees Schoonderwoerd, Abdelaziz Sefiani, Ilham Ratbi, Wouter Coppieters, Latifa Karim, René de Coo, Bianca van den Bosch, Hubert Smeets
Leigh syndrome is an early onset, often fatal progressive neurodegenerative disorder caused by mutations in the mitochondrial or nuclear DNA. Until now, mutations in more than 35 genes have been reported to cause Leigh syndrome, indicating an extreme genetic heterogeneity for this disorder, but still only explaining part of the cases. The possibility of whole exome sequencing enables not only mutation detection in known candidate genes, but also the identification of new genes associated with Leigh syndrome in small families and isolated cases...
March 2013: Brain: a Journal of Neurology
Juan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, Alfonso Oyarzabal, Niklas Darín, Mercedes Serrano, Angels Garcia-Cazorla, Mireia Tondo, María Hernández, Judit Garcia-Villoria, Mercedes Casado, Laura Gort, Johannes A Mayr, Pilar Rodríguez-Pombo, Antonia Ribes, Rafael Artuch, Belén Pérez-Dueñas
Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 whole blood and 38 cerebrospinal fluid samples from paediatric controls, 16 cerebrospinal fluid samples from patients with Leigh syndrome, six of whom harboured mutations in the SLC19A3 gene, and 49 patients with other neurological disorders...
January 2016: Brain: a Journal of Neurology
Nicole J Lake, Alison G Compton, Shamima Rahman, David R Thorburn
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations in >75 genes have been identified, encoded by 2 genomes (mitochondrial and nuclear). More than one-third of these disease genes have been characterized in the past 5 years alone, reflecting the significant advances made in understanding its etiological basis. We review the diverse biochemical and genetic etiology of Leigh syndrome and associated clinical, neuroradiological, and metabolic features that can provide clues for diagnosis...
February 2016: Annals of Neurology
Mihaela Boca, Katie Lloyd, Marcus Likeman, Philip Jardine, Alan Whone
A previously well 16-year-old boy developed a rapid-onset hypokinetic syndrome, coupled with a radiological appearance of extensive and highly symmetrical basal ganglia and white matter change. The diagnostic process was challenging and we systematically considered potential causes. After excluding common causes of this clinico-radiological picture, we considered common disorders with this unusual radiological picture and vice versa, before finally concluding that this was a rare presentation of a rare disease...
December 2016: Practical Neurology
Thomas C Südhof
Neuroscience is inherently interdisciplinary in its quest to explain the brain. Like all biological structures, the brain operates at multiple levels, from nano-scale molecules to meter-scale systems. Here, I argue that understanding the nano-scale organization of the brain is not only helpful for insight into its function, but is a requisite for such insight. I propose that one impediment to a better understanding of the brain is that most of its molecular processes are incompletely understood, and suggest a number of key questions that require our attention so that progress can be achieved in neuroscience beyond a description of the activity of neural circuits...
November 1, 2017: Neuron
Lina Mastrangelo
The 200years of research efforts on Parkinson disease (PD) form the basis of our understanding of the second most common neurodegenerative disorder after Alzheimer disease. This journey has been marked by the revolutionary discovery of a neurotransmitter replacement therapy that provides a longer and healthier life to patients. Since 1997, the advances in the genetics of PD have expanded our understanding of this neurodegenerative disorder and they are opening up new ways to search for disease-modifying therapies...
2017: Advances in Genetics
Russell P Saneto
Mitochondria are intracellular organelles responsible for adenosine triphosphate production. The strict control of intracellular energy needs require proper mitochondrial functioning. The mitochondria are under dual controls of mitochondrial DNA (mtDNA) and nuclear DNA (nDNA). Mitochondrial dysfunction can arise from changes in either mtDNA or nDNA genes regulating function. There are an estimated ∼1500 proteins in the mitoproteome, whereas the mtDNA genome has 37 proteins. There are, to date, ∼275 genes shown to give rise to disease...
2017: Advances in Genetics
Patrick T Harrison, Stephen Hart
NEW FINDINGS: What is the topic of this review? This review summarizes the development of gene editing from early proof-of-concept studies in the 1980s to contemporary programmable and RNA-guided nucleases, which enable rapid and precise alteration of DNA sequences of almost any living cell. What advances does it highlight? With an average of one clustered regularly interspaced short palindromic repeat (CRISPR) Cas9 paper published every 4 h in 2017, this review cannot highlight all new developments, but a number of key improvements, including increases in efficiency, a range of new options to reduce off-target effects and plans for CRISPR to enter clinical trials in 2018, are discussed...
April 1, 2018: Experimental Physiology
Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer
Dravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with SCN1A mutations and 15% mortality by 20 years. Although over half of cases succumb to sudden unexpected death in epilepsy, the cause of death in the remainder is poorly defined. We describe the clinical, radiologic, and pathologic characteristics of a cohort of children with DS and SCN1A mutations who developed fatal cerebral edema causing mass effect after fever-associated status epilepticus. Cases were identified from a review of children with DS enrolled in the Epilepsy Genetics Research Program at The University of Melbourne, Austin Health, who died after fever-associated status epilepticus...
April 2017: Pediatrics
Claudia Carnevale, Daniele Castiglia, Andrea Diociaiuti, Vittoria Proto, Simona Giancristoforo, Renata Boldrini, Giovanna Zambruno, Maya El Hachem
No abstract text is available yet for this article.
November 15, 2017: Acta Dermato-venereologica
Sanjay Singh, Setu Mittal, Anju Bhari, Neetu Bhari
No abstract text is available yet for this article.
October 20, 2017: BMJ Case Reports
Balvinder Kaur Brar, Sarina Jain, Sukhmani Kaur Brar
Lipoid proteinosis is a rare inherited genodermatosis characterized by hyaline deposits in various tissues. Clinically, it manifests with cutaneous as well as extracutaneous features. Periodic acid-Schiff (PAS)-reactive hyaline deposits in the upper dermis, with localization around blood vessels and eccrine sweat glands, in particular, is the histopathological hallmark finding. On brain imaging, bilateral symmetrical temporal lobe calcifications are considered to be pathognomonic of this disorder. We report a case of lipoid proteinosis in which hyaline deposits were present in the papillary and reticular dermis, without being seen at the periphery of eccrine sweat glands, along with dystrophic calcification...
October 2017: Journal of Cutaneous Pathology
Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Alessia Omenetti, Maria Alessio, Giovanni Conti, Federico Marchetti, Paolo Picco, Alberto Tommasini, Silvana Martino, Clara Malattia, Romina Gallizi, Rosa Anna Podda, Annalisa Salis, Fernanda Falcini, Francesca Schena, Francesca Garbarino, Alessia Morreale, Manuela Pardeo, Claudia Ventrici, Chiara Passarelli, Qing Zhou, Mariasavina Severino, Carlo Gandolfo, Gianluca Damonte, Alberto Martini, Angelo Ravelli, Ivona Aksentijevich, Isabella Ceccherini, Marco Gattorno
OBJECTIVES: To analyse the prevalence of CECR1 mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). Forty-eight patients from 43 families were included in the study. METHODS: Direct sequencing of CECR1 was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity was analysed in monocyte isolated from patients and healthy controls incubated with adenosine and with or without an ADA1 inhibitor...
October 2017: Annals of the Rheumatic Diseases
Katharina Maniura-Weber, Robert W Taylor, Margaret A Johnson, Zofia Chrzanowska-Lightowlers, Andrew A M Morris, Charles P J Charlton, Douglass M Turnbull, Laurence A Bindoff
We report a novel, heteroplasmic point mutation in the mitochondrial tRNA for tryptophan at position 5532. The mutation was present in all the tissues studied and segregated with the biochemical defect, with higher levels of mutation present in cytochrome c oxidase-deficient muscle fibres. The patient manifested a neurogastrointestinal syndrome with features including failure to thrive, psychomotor retardation, ophthalmoplegia, sensorineural deafness and encephalopathy together with vomiting, diarrhoea and colitis...
June 2004: European Journal of Human Genetics: EJHG
Rubina Dad, Susan Walker, Stephen W Scherer, Muhammad Jawad Hassan, Suk Yun Kang, Berge A Minassian
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
Nicolas N Madigan, Nathan P Staff, Anthony J Windebank, Eduardo E Benarroch
No abstract text is available yet for this article.
October 17, 2017: Neurology
Melissa Gymrek, Thomas Willems, David Reich, Yaniv Erlich
Identifying regions of the genome that are depleted of mutations can distinguish potentially deleterious variants. Short tandem repeats (STRs), also known as microsatellites, are among the largest contributors of de novo mutations in humans. However, per-locus studies of STR mutations have been limited to highly ascertained panels of several dozen loci. Here we harnessed bioinformatics tools and a novel analytical framework to estimate mutation parameters for each STR in the human genome by correlating STR genotypes with local sequence heterozygosity...
October 2017: Nature Genetics
Dhaval Desai, A Jamil Tajik
A 65-year-old woman presented to a clinic to be evaluated for Marfan’s syndrome after her identical twin received a diagnosis of the disorder. Physical examination revealed iridodonesis, or "dancing" of the iris, which was elicited by rapid movement of the eye (see video). A 3/6 holodiastolic..
September 14, 2017: New England Journal of Medicine
2017-09-24 08:20:36
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