Read by QxMD icon Read


Xiang-Qian Che, Qian-Hua Zhao, Yue Huang, Xia Li, Ru-Jing Ren, Sheng-Di Chen, Gang Wang, Qi-Hao Guo
Mutations in microtubule associated protein tau (MAPT), progranulin (GRN), chromosome 9 open-reading frame 72 (C9orf72) and CHCHD10 genes have been reported causing frontotemporal dementia (FTD) in different populations. However, collective analysis of mutations in these four genes in Chinese FTD patients has not been reported yet. The aim of this study was to investigate the geneticfeatures of Chinese patients with MAPT, PGRN, C9orf72 or CHCHD10 gene mutations in a FTD cohort recruited from multi clinical centers in Shanghai metropolitan areas, China...
April 25, 2017: Current Alzheimer Research
R Juntas Morales, N Pageot, G Taieb, W Camu
Spinal muscular atrophy (SMA) refers to a group of disorders affecting lower motor neurons. The age of onset of these disorders is variable, ranging from the neonatal period to adulthood. Over the last few years, there has been enormous progress in the description of new genes and phenotypes that throw new light on the molecular pathways involved in motor neuron degeneration. Advances in our understanding of the pathophysiology of the most frequent forms, SMA linked to SMN1 gene mutations and Kennedy disease, has led to the development of therapeutic strategies currently being tested in clinical trials...
April 26, 2017: Revue Neurologique
Innocenzo Rainero, E Rubino, A Michelerio, F D'Agata, Salvatore Gentile, Lorenzo Pinessi
The term frontotemporal lobar degeneration (FTLD) describes a spectrum of neurodegenerative disorders associated with deposition of misfolded proteins in the frontal and temporal lobes. Up to 40% of FTLD patients reports a family history of neurodegeneration, and approximately 1/3 of familial cases shows an autosomal dominant pattern of inheritance of the phenotype. Over the past two decades, several causative and susceptibility genes for FTLD have been discovered, supporting the notion that genetic factors are important contributors to the disease processes...
January 2017: Functional Neurology
Shen Shen, Ji He, Lu Tang, Nan Zhang, Dongsheng Fan
Many genes have been found to be pathogenic for amyotrophic lateral sclerosis (ALS). Among them, the coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10) has been reported to play a controversial role in ALS. We examined the coding region of this gene in 424 unrelated Chinese sporadic ALS subjects, 73 familial ALS subjects, and 204 healthy controls using a polymerase chain reaction-direct sequencing strategy. Two types of variants were identified, and of these, one variant (g.877C>T, p.P23L) was identified to be damaging, and the other one was (g...
June 2017: Neurobiology of Aging
Elisa Rubino, Livia Brusa, Ming Zhang, Silvia Boschi, Flora Govone, Alessandro Vacca, Annalisa Gai, Lorenzo Pinessi, Leonardo Lopiano, Ekaterina Rogaeva, Innocenzo Rainero
In recent years, CHCHD2 and CHCHD10 mutations were reported to be associated with a broad spectrum of neurodegenerative diseases, including Parkinson's disease (PD), although with conflicting results in different populations. The present study aimed to evaluate CHCHD2 and CHCHD10 coding variants in Italian patients with PD. All the coding regions and flanking intronic splice sites of CHCHD2 and CHCHD10 were sequenced. None of our 119 PD cases carried CHCHD2 mutations, whereas 1 sporadic PD patient showed the Pro34Ser substitution in CHCHD10...
May 2017: Neurobiology of Aging
Federica Perrone, Hung Phuoc Nguyen, Sara Van Mossevelde, Matthieu Moisse, Anne Sieben, Patrick Santens, Jan De Bleecker, Mathieu Vandenbulcke, Sebastiaan Engelborghs, Jonathan Baets, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter P De Deyn, Jean-Jacques Martin, Philip Van Damme, Christine Van Broeckhoven, Julie van der Zee
Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis-(ALS) and frontotemporal dementia-(FTD) associated genes, CHCHD10 and TUBA4A, were performed in a Belgian cohort of 459 FTD, 28 FTD-ALS, and 429 ALS patients. In CHCHD10, we identified a novel nonsense mutation (p.Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss of transcript. We further observed 3 previously described missense variants (p.Pro34Ser, p.Pro80Leu, and p...
March 2017: Neurobiology of Aging
Sini Penttilä, Manu Jokela, Anna Maija Saukkonen, Jari Toivanen, Johanna Palmio, Janne Lähdesmäki, Satu Sandell, Mariia Shcherbii, Mari Auranen, Emil Ylikallio, Henna Tyynismaa, Bjarne Udd
No abstract text is available yet for this article.
November 3, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
Zhi-Dong Zhou, Wuan-Ting Saw, Eng-King Tan
The coiled-coil-helix-coiled-coil-helix domain (CHCHD)-containing proteins are evolutionarily conserved nucleus-encoded small mitochondrial proteins with important functions. So far, nine members have been identified in this protein family. All CHCHD proteins have at least one functional coiled-coil-helix-coiled-coil-helix (CHCH) domain, which is stabilized by two pairs of disulfide bonds between two helices. CHCHD proteins have various important pathophysiological roles in mitochondria and other key cellular processes...
September 8, 2016: Molecular Neurobiology
Tingting Xiao, Bin Jiao, Weiwei Zhang, Chuzheng Pan, Jingya Wei, Xiaoyan Liu, Yafang Zhou, Lin Zhou, Beisha Tang, Lu Shen
CHCHD10 gene has been identified to be associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Considering the clinical phenotype and pathology characterization were overlapped between FTD and Alzheimer disease (AD), and so far, no systematic analysis of CHCHD10 mutation was conducted in patients with AD in Asian population. Therefore, we screened of all exons in CHCHD10 in a cohort of 484 AD patients (60 with family history) from Mainland China. A heterozygous variant p.A35D (c...
August 30, 2016: Molecular Neurobiology
Matthew A White, Jemeen Sreedharan
PURPOSE OF REVIEW: Amyotrophic lateral sclerosis (ALS), like other neurodegenerative diseases, remains incurable, but gene mutations linked to ALS are providing clues as to how to target therapies. It is important for researchers to keep abreast of the rapid influx of new data in ALS, and we aim to summarize the major genetic advances made in the field over the past 2 years. RECENT FINDINGS: Significant variation in seven genes has recently been found in ALS: TBK1, CCNF, GLE1, MATR3, TUBA4A, CHCHD10 and NEK1...
October 2016: Current Opinion in Neurology
Elisa Teyssou, Laura Chartier, Mélanie Albert, Alexandra Bouscary, Jean-Christophe Antoine, Jean-Philippe Camdessanché, Francesco Rotolo, Philippe Couratier, François Salachas, Danielle Seilhean, Stéphanie Millecamps
Mutations in CHCHD10 have been reported as the cause of a large panel of neurologic disorders. To confirm the contribution of this gene to amyotrophic lateral sclerosis (ALS) disease, we analyzed the 4 coding exons of CHCHD10 by Sanger sequencing in a cohort of 118 French familial ALS already excluded for all known ALS-related genes. We did not find any pathogenic mutation suggesting that CHCHD10 is not a major genetic cause of familial ALS, in France.
June 2016: Neurobiology of Aging
Xiao Ling Li, Shi Shu, Xiao Guang Li, Qing Liu, Fang Liu, Bo Cui, Ming Sheng Liu, Bin Peng, Li Ying Cui, Xue Zhang
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by the death of motor neurons. Recently, mutations in CHCHD10 have been reported to cause ALS in Western populations. In the present study, direct DNA sequencing has been performed on CHCHD10 in a cohort of 294 ALS patients of Chinese Han origin. No mutations were identified in CHCHD10 in ALS cases of Chinese ancestry. We propose CHCHD10 might not be a frequent causal gene among Chinese with ALS.
July 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Mari Auranen, Emil Ylikallio, Maria Shcherbii, Anders Paetau, Sari Kiuru-Enari, Jussi P Toppila, Henna Tyynismaa
OBJECTIVE: We describe the phenotype consistent with axonal Charcot-Marie-Tooth disease type 2 (CMT2) in 4 families with a c.197G>T (p.(Gly66Val)) variant in CHCHD10. METHODS: We sequenced the CHCHD10 gene in a cohort of 107 families with CMT2 of unknown etiology. The patients were characterized by clinical examination and electroneuromyography. Muscle MRI and biopsy of the muscle or nerve were performed in selected cases. Neuropathologic autopsy was performed in 1 case...
June 2015: Neurology. Genetics
QingQing Zhou, YongPing Chen, QianQian Wei, Bei Cao, Ying Wu, Bi Zhao, RuWei Ou, Jing Yang, XuePing Chen, Shinji Hadano, Hui-Fang Shang
Mutations in the coiled-coil-helix-coiled-coil-helix domain-containing protein 10 gene (CHCHD10), involved in mitochondrial function, have recently been reported as a causative gene of amyotrophic lateral sclerosis (ALS). The aim of this study was to obtain the mutation prevalence of CHCHD10 and the phenotypes with mutations in Chinese ALS patients. A cohort of 499 ALS patients including 487 sporadic ALS (SALS) and 12 familial ALS (FALS), from the Department of Neurology, West China Hospital of Sichuan University, were screened for mutations of all exons of the CHCHD10 gene by Sanger sequencing...
April 7, 2016: Molecular Neurobiology
Manu Jokela, Sanna Huovinen, Olayinka Raheem, Mikaela Lindfors, Johanna Palmio, Sini Penttilä, Bjarne Udd
The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron disorders. We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. Distinct large fiber type grouping consisting of non-atrophic type IIA muscle fibers were 100% specific for the late-onset spinal muscular atrophies (SMAJ and SBMA) and were never observed in c9ALS...
2016: PloS One
Pei-Chien Tsai, Yi-Chien Liu, Kon-Ping Lin, Yo-Tsen Liu, Yi-Chu Liao, Cheng-Tsung Hsiao, Bing-Wen Soong, Ping-Keung Yip, Yi-Chung Lee
Mutations in the TBK1 gene were just recently identified to cause amyotrophic lateral sclerosis (ALS), and their role in ALS in various populations remains unclear. The aim of this study was to determine the frequency and spectrum of mutations in TBK1 in a Taiwanese ALS cohort of Han Chinese origin. Mutational analyses of TBK1 were carried out by direct nucleotide sequencing in a cohort of 207 unrelated patients with ALS. Among them, the genetic diagnoses of 168 patients remained elusive after mutations in SOD1, C9ORF72, TARDBP, FUS, ATXN2, OPTN, VCP, UBQLN2, SQSTM1, PFN1, HNRNPA1, HNRNPA2B1, MATR3, CHCHD10, and TUBA4A had been excluded...
April 2016: Neurobiology of Aging
Chun Hao Wong, Simon Topp, Athina Soragia Gkazi, Claire Troakes, Jack W Miller, Martina de Majo, Janine Kirby, Pamela J Shaw, Karen E Morrison, Jacqueline de Belleroche, Caroline A Vance, Ammar Al-Chalabi, Safa Al-Sarraj, Christopher E Shaw, Bradley N Smith
Mutations in CHCHD10 have recently been reported as a cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. To address the genetic contribution of CHCHD10 to ALS, we have screened a cohort of 425 UK ALS ± frontotemporal dementia patients and 576 local controls in all coding exons of CHCHD10 by Sanger sequencing. We identified a previously reported p.P34S variant that is also present in neurologically healthy controls (p = 0.58). Our results suggest that CHCHD10 is not a primary cause of ALS in UK cases...
October 2015: Neurobiology of Aging
P Pasanen, L Myllykangas, M Pöyhönen, S Kiuru-Enari, P J Tienari, H Laaksovirta, J Toppila, E Ylikallio, H Tyynismaa, M Auranen
OBJECTIVES: Mutations in the CHCHD10 gene, which encodes a mitochondrially targeted protein, have emerged as an important cause of motor neuron disease and frontotemporal lobar degeneration. The aim of this study was to assess the clinical variability in a large family carrying the p.Gly66Val mutation of the CHCHD10 gene. This mutation has recently been reported to cause late-onset spinal muscular atrophy (SMAJ) or sensorimotor axonal Charcot-Marie-Tooth neuropathy (CMT2) in the Finnish population...
May 2016: Acta Neurologica Scandinavica
Adriano Chiò, Gabriele Mora, Mario Sabatelli, Claudia Caponnetto, Bryan J Traynor, Janel O Johnson, Mike A Nalls, Andrea Calvo, Cristina Moglia, Giuseppe Borghero, Maria Rosaria Monsurrò, Vincenzo La Bella, Paolo Volanti, Isabella Simone, Fabrizio Salvi, Francesco O Logullo, Riva Nilo, Stefania Battistini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Marcella Zollino, Francesca L Conforti, Maura Brunetti, Marco Barberis, Gabriella Restagno, Silvana Penco, Christian Lunetta
Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n = 64) and apparently sporadic ALS (n = 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS...
April 2015: Neurobiology of Aging
Sini Penttilä, Manu Jokela, Heidi Bouquin, Anna Maija Saukkonen, Jari Toivanen, Bjarne Udd
OBJECTIVE: A study was undertaken to identify the responsible gene defect underlying late onset spinal motor neuronopathy (LOSMoN/SMAJ; Online Mendelian Inheritance in Man #615048), an autosomal dominant disease mapped to chromosome 22q11.2. METHODS: The previous genetic linkage approach by microsatellite haplotyping was continued in new families. A whole genome sequencing was performed to find all possibly pathogenic mutations in the linked area. The detected variations were verified by Sanger sequencing...
January 2015: Annals of Neurology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"