Results 61 to 70 of about 16,368 (183)

Psychiatric Symptoms in Amyotrophic Lateral Sclerosis: Beyond a Motor Neuron Disorder

Frontiers in Neuroscience, 2019
The historical view that Amyotrophic Lateral Sclerosis (ALS) as a pure motor disorder has been increasingly challenged by the discovery of cognitive and behavioral changes in the spectrum of Frontotemporal Dementia (FTD).
Elisabetta Zucchi, Nicola Ticozzi, Nicola Ticozzi, Jessica Mandrioli   +3 more
doaj   +1 more source

Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture.

PLoS Biology, 2021
A major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum disorder is the hexanucleotide G4C2 repeat expansion in the first intron of the C9orf72 gene.
Julia Nörpel, Simone Cavadini, Andreas D Schenk, Alexandra Graff-Meyer, Daniel Hess, Jan Seebacher, Jeffrey A Chao, Varun Bhaskar   +7 more
doaj   +1 more source

Progressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR‐PSP)

Movement Disorders Clinical Practice, EarlyView.
Background Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India's large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective To characterize the demographic, clinical, and phenotypic profiles of a large
Prashanth Lingappa Kukkle, Divyani Garg, Jacky Ganguly, Soaham Desai, Rukmini Mridula Kandadai, Sahil Mehta, Pettarusp Murzban Wadia, Deepika Joshi, Lulup Sahoo, Vijayashankar Paramanandam, Taallapalli Ashok Vardhan Reddy, Adreesh Mukherjee, Syam Krishnan, Kuldeep Shetty, Charulata Sankhla, Pankaj Agarwal, Heli S. Shah, Suvorit Bhowmick, Mitesh Chandarana, Malini Venkata, Thenral S. Geetha, Ramesh Menon, Sandeep Charugulla, Sakthivel Murugan, Ravi Gupta, Niraj Kumar, Atanu Biswas, Hrishikesh Kumar, Rupam Borgohain, Huw Morris, Vedam. L Ramprasad, Parkinson's Research Alliance of India (PRAI) and the Global Parkinson's Genetic Program (GP2)   +31 more
wiley   +1 more source

Emergencies in Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
ABSTRACT Emergencies are frequent in people living with amyotrophic lateral sclerosis (pALS), especially as the disease progresses, and can necessitate urgent evaluation and intervention. Progressive weakness in ALS inevitably increases fall risk, making discussion of fall prevention strategies integral to caring for pALS.
S. Pinar Uysal, Katherine A. Dudley, Stacey Sullivan, Kate T. Brizzi, Katherine M. Burke, Sydney Hall, Kiersten Pease, Joshua N. Goldstein, James D. Berry, Doreen T. Ho   +9 more
wiley   +1 more source

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy [PDF]

Microsatellite repeat expansion disease loci can exhibit pleiotropic clinical and biological effects depending on repeat length. Large expansions in C9orf72 (100s-1000s of units) are the most common genetic cause of amyotrophic lateral sclerosis (ALS ...
Dickson DW, Miller BL, Kretzschmar H, Lee VM, Van Deerlin VM, Trojanowski JQ, Gaig C, Schellenberg GD, Gearing M, Ho WY, Troncoso JC, Ling H, Ling SC, Cali CP, Morris CM, McLean CA, Tai YK, Ghetti B, Troakes C, White CL, Patino M, Mok KY, Roeber S, Vonsattel JPG, Lee EB, Seeley WW   +25 more
core   +4 more sources

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTD

Hexanucleotide repeat expansions (HREs) in the chromosome 9 open reading frame 72 (C9orf72) gene are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Audrey MG Ragagnin (15824408), Marta Vidal (5331656), Julie Atkin (9493142), Dominic B Rowe (20324970), Sharlynn Wu (20324967), Garth Nicholson (10486580), Kai Ying Soo (19808277), Sonam Parakh (491194), Kunjie Ding (20261418), Shu Yang (381226), Anand Deva (9358509), Emily K Don (15310486), Sayanthooran Saravanabavan (10687609), Sina Shadfar (6885677), Cyril Jones Jagaraj (12309665), Ian Blair (13505113), Jessica Sultana (20324964)   +16 more
core   +1 more source

Mesenchymal stem cell–derived extracellular vesicle treatment of induced pluripotent stem cell–derived motor neurons with different amyotrophic lateral sclerosis genetic backgrounds

Neural Regeneration Research
Motor neurons derived from induced human pluripotent stem cells offer a powerful model to study motor neuron diseases, such as amyotrophic lateral sclerosis. While widely used, our knowledge of the proteomic changes in these models is rather rudimentary.
Suzy Varderidou-Minasian, Channa E. Jakobs, Svetlana Pasteuning-Vuhman, Lars Gal, Annabel Timmers, Maarten Altelaar, Magdalena J. Lorenowicz, R. Jeroen Pasterkamp   +7 more
doaj   +1 more source

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Acta Neuropathologica Communications, 2019
The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained.
Dennis W. Dickson, Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman, Cyril Pottier, Tania F. Gendron, Melissa E. Murray, Yingxue Ren, Joseph S. Reddy, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Leonard Petrucelli, Björn Oskarsson, John W. Sheppard, Yan W. Asmann, Rosa Rademakers, Marka van Blitterswijk   +22 more
doaj   +1 more source

RCC1 neuropathy mimics childhood axonal Guillain–Barré syndrome with variable clinical severity and survival

Developmental Medicine &Child Neurology, EarlyView.
We present 10 patients who presented with acute onset axonal neuropathy following infection, mimicking childhood axonal Guillain–Barré syndrome. We review phenotypes, undertake survival analysis, and assess function of novel RCC1 variants in vitro. Abstract Aim To assess the phenotype and genotype of 10 new patients with biallelic RCC1 variants who ...
Han Zhang, Beril Din, John H. McDermott, RCC1 Neuropathy Study Group, Adam Jackson, Halil Tuna Akar, Ali Dursun, Riza Koksal‐Ozgul, Reza Sadjadi, Lauren Politica, Stephan Zuchner, Reza Maroofian, Usman Ali, Dudu Turkyilmaz, Jawadur Rahman, Hasan Bas, Khalid Hussain, Khalid A Fakhro, Aljazi Al‐Maraghi, Annemarie CS Knijnenburg, Monique Engel, Debby Hellebrekers, Heike Losch, Sietse M Aukema, Marlene Kullik, Christoph Geier, Raymond T. O'Keefe, William G. Newman, J. Robert Harkness   +28 more
wiley   +1 more source