Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Publication date: Available online 25 July 2016 Source:Molecular Genetics and Metabolism Author(s): Michael Fietz, Moeenaldeen AlSayed, Derek Burke, Jessica Cohen-Pfeffer, Jonathan D. Cooper, Lenka Dvořáková, Roberto Giugliani, Emanuela Izzo, Helena Jahnová, Zoltan Lukacs, Sara E. Mole, Ines Noher de Halac, David A. Pearce, Helena Poupetova, Angela Schulz, Nicola Specchio, Winnie Xin, Nicole Miller Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal ceroid lipofuscinosis type 2 (CLN2) disease, caused by mutations in the tripeptidyl peptidase 1 (TPP1)/CLN2 gene and the resulting TPP1 enzyme deficiency. CLN2 disease most commonly presents with seizures and/or ataxia in the late-infantile period (ages 2–4), often in combination with a history of language delay, followed by progressive childhood dementia, motor and visual deterioration, and early death. Atypical phenotypes are characterized by later onset and, in some instances, longer life expectancies. Early diagnosis is important to optimize clinical care and improve outcomes; however, currently, delays in diagnosis are common due to low disease awareness, nonspecific clinical presentation, and limited access to diagnostic testing in some regions. In May 2015, international experts met to recommend best laboratory practices for early diagnosis of CLN2 disease....
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research

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Publication date: October 2019Source: Epilepsy &Behavior, Volume 99Author(s): Chiara Maria Trovato, Umberto Raucci, Francesco Valitutti, Monica Montuori, Maria Pia Villa, Salvatore Cucchiara, Pasquale ParisiAbstractCeliac disease (CD) is a systemic, chronic immune-mediated disorder elicited by gluten and related prolamines in genetically susceptible subjects. Main manifestations of CD involve the digestive tract; however, a growing body of evidence supports the theory that symptoms may occur in every part of the body. It is known that some patients with CD can be asymptomatic, and additionally, the incidence of “...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Abstract Celiac disease (CD) is a systemic, chronic immune-mediated disorder elicited by gluten and related prolamines in genetically susceptible subjects. Main manifestations of CD involve the digestive tract; however, a growing body of evidence supports the theory that symptoms may occur in every part of the body. It is known that some patients with CD can be asymptomatic, and additionally, the incidence of "nonclassical" CD with extraintestinal presentation is apparently increasing. We aimed to perform a thorough review of existing evidence for neurological manifestations of CD, providing an up-to-dat...
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
Publication date: Available online 23 August 2019Source: SeizureAuthor(s): Alessandro Orsini, Angelo Valetto, Veronica Bertini, Mariagrazia Esposito, Niccolò Carli, Berge A. Minassian, Alice Bonuccelli, Diego Peroni, Roberto Michelucci, Pasquale StrianoAbstractProgressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized epilepsy, and neurological deterioration, including dementia and ataxia. PMEs may have infancy, childhood, juvenile or adult onset, but usually present in late childhood or adolescence, at variance from epil...
Source: Seizure - Category: Neurology Source Type: research
The Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders (mainly autosomal recessive), characterised by myoclonus, generalized epilepsy, and progressive neurological deterioration, including dementia and ataxia [1]. PMEs are disorders with debilitating evolution, resistance to treatment and poor prognosis, and it is estimated that these diseases are responsible for up to 1% of epileptic syndromes in children and adolescents around the world.
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Tags: Review Source Type: research
Publication date: Available online 26 July 2019Source: Progress in NeurobiologyAuthor(s): Camille A. Juźwik, Sienna S. Drake, Yang Zhang, Nicolas Paradis-Isler, Alexandra Sylvester, Alexandre Amar-Zifkin, Chelsea Douglas, Barbara Morquette, Craig S. Moore, Alyson FournierAbstractWhile the root causes for individual neurodegenerative diseases are distinct, many shared pathological features and mechanisms contribute to neurodegeneration across diseases. Altered levels of microRNAs, small non-coding RNAs involved in post transcriptional regulation of gene expression, are reported for numerous neurodegenerative diseases. Yet,...
Source: Progress in Neurobiology - Category: Neuroscience Source Type: research
Shanshan Zhang1, Dongli Yuan2 and Ge Tan1* 1Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China 2The Institute of Medical Information, Chongqing Medical University, Chongqing, China Primary systemic vasculitis can affect every structure in both the central and peripheral nervous system, causing varied neurological manifestations of neurological dysfunction. Early recognition of the underlying causes of the neurological symptoms can facilitate timely treatment and improve the prognosis. This review highlights the clinical manifestations of primary systemic vasc...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Grand Total EEG Score Can Differentiate Parkinson's Disease From Parkinson-Related Disorders Ela Austria Barcelon1,2*, Takahiko Mukaino1, Jun Yokoyama1, Taira Uehara2, Katsuya Ogata2, Jun-ichi Kira1 and Shozo Tobimatsu2 1Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan2Department of Clinical Neurophysiology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan Background: Semi-quantitative electroencephalogram (EEG) analysis is easy to perform and has been used to differentiate dementias, as well ...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
CONCLUSION: This case is the Latin American index for a new congenital phenotype of the CLN8 disease. The congenital phenotype has to be added to the clinical spectrum of the CLN8 disease. The suspicion of CLN8 disease should be genetically sustained in challenging cases of a neurodegenerative syndrome with psychomotor delay since birth, speech difficulty and seizures. The course includes ataxia, cerebellar atrophy, and early death. PMID: 30741402 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 147 Author(s): Thomas D. Bird, Corrie O. Smith Neurogenetic diseases are surprisingly common. This chapter reviews a systematic approach to the evaluation of a patient thought to have such a disease. The emphasis is on first recognizing potential clues to the diagnosis contained in the family history and presentation of symptoms. Ataxia, neuropathy, muscle weakness, dementia, epilepsy, and cognitive delay are all “reservoirs” of neurogenetic disease. A high index of suspicion for genetic causes and a thoughtful evaluation of simplex (sporadic...
Source: Handbook of Clinical Neurology - Category: Neurology Source Type: research
We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB. At the age of 3years he presented with global developmental delay, progressive epilepsy, intellectual disability, axial hypertonia, spasticity, seizures and ataxia, but without the macular cherry-red spots typical for GM2 gangliosidosis. Brain MRI detected a rapid onset of diffuse atrophy, whereas whole exome sequencing showed that the patient is a compound heterozygote for two mutations in GM2A: a novel nonsense mutation, c.259G>T (p.E87X) and a missense mutation c.164C>T (p.P55L) that was recently identified in homozygo...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
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