Results 61 to 70 of about 36,080 (282)

Prevalence of Trinucleotide Expansions in SCA17/TBP and JPH3 Genes and Octapeptide Insertion in PRNP Gene in Iranian Patients with Huntington-Disease like Syndrome

Medical Laboratory Journal, 2020
Background and objective:  Huntingtonchr('39')s disease (HD) is an autosomal dominant disorder that mainly affects adults. Although mutations in the IT15 gene have been known as the main cause of the disease, patients with HD like (HDL) syndrome have ...
mana zakeri, amir hosein babaei, mohamad taghi akbari, shohreh zare, faravar khordadpoor   +4 more
doaj  

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

Combination of Serum Neurofilament Light Chain and Serum Cardiac Troponin T as Biomarkers Improves Diagnostic Accuracy in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective We aimed to evaluate the clinical utility of serum neurofilament light chain (sNfL) and cardiac troponin T (cTnT) in amyotrophic lateral sclerosis (ALS) and assess whether their combination improves diagnostic accuracy. Methods We retrospectively analyzed 293 ALS patients, 85 neurodegenerative disease controls, and 29 healthy controls.
Paula Lindenborn, Rachel Fabian, Torsten Grehl, Huelya Nazlican, Thomas Meyer, Sarah Bernsen, Patrick Weydt   +6 more
wiley   +1 more source

International Guidelines for the Treatment of Huntington's Disease

Frontiers in Neurology, 2019
The European Huntington's Disease Network (EHDN) commissioned an international task force to provide global evidence-based recommendations for everyday clinical practice for treatment of Huntington's disease (HD). The objectives of such guidelines are to
Anne-Catherine Bachoud-Lévi, Joaquim Ferreira, Renaud Massart, Katia Youssov, Anne Rosser, Monica Busse, David Craufurd, David Craufurd, Ralf Reilmann, Ralf Reilmann, Giuseppe De Michele, Daniela Rae, Ferdinando Squitieri, Klaus Seppi, Charles Perrine, Clarisse Scherer-Gagou, Olivier Audrey, Christophe Verny, Jean-Marc Burgunder   +18 more
doaj   +1 more source

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Have Distinct Prediagnostic Blood Biochemical Profiles

Annals of Neurology, EarlyView.
Objective Identifying modifiable factors influencing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) risk is important for prevention. Blood biomarkers, particularly cholesterol, have been associated with neurodegenerative risk, but findings in ALS are inconsistent, and data on FTD are limited.
Christos V. Chalitsios, Jiali Gao, Carol A.C. Coupland, Julia Hippisley Cox, Martin R. Turner, Alexander G. Thompson   +5 more
wiley   +1 more source

Therapeutic advances in neural regeneration for Huntington's disease

Neural Regeneration Research
Huntington's disease is a neurodegenerative disease caused by the expansion mutation of a cytosine-adenine-guanine triplet in the exon 1 of the HTT gene which is responsible for the production of the huntingtin (Htt) protein. In physiological conditions,
Francesco D'Egidio, Vanessa Castelli, Giorgia Lombardozzi, Fabrizio Ammannito, Annamaria Cimini, Michele d'Angelo   +5 more
doaj   +1 more source

“Clinical profile of genetically proven huntington's disease patients from Eastern India”

Annals of Indian Academy of Neurology, 2020
Background and Aims: To study the clinical profile of genetically proven Huntington's disease (HD) patients from eastern India. Methods: This cross sectional study selected patients of HD after genetic confirmation of expanded CAG repeats in Huntingtin ...
Zakir Hussain, Adreesh Mukherjee, Goutam Ganguly, Anindita Joardar, Sarnava Roy, Deb Sankar Guin, Uma Sinharoy, Atanu Biswas, Shyamal Kumar Das   +8 more
doaj   +1 more source

Anatomical Progression of Neuropathology in FTLD‐TDP Type C and Linkage to Annexin A11

Annals of Neurology, EarlyView.
Objective Frontotemporal lobar degenerations (FTLD)‐TDP type C (TDP‐C) is distinguished from other FTLD‐TDP subtypes by 3 unique features: (1) invariable onset in the anterior temporal lobe (ATL), (2) phosphorylated TDP‐43 (pTDP) neurites in cortex, and (3) colocalization of all pTDP deposits with annexin A11 (ANXA11).
Allegra Kawles, Caroline Nelson, Ivan Ayala, Elena Barbieri, Rudolph Castellani, Changiz Geula, Tamar Gefen, M. Marsel Mesulam   +7 more
wiley   +1 more source

Major Superficial White Matter Abnormalities in Huntington disease

Frontiers in Neuroscience, 2016
BackgroundThe late myelinating superficial white matter at the juncture of the cortical gray and white matter comprising the intracortical myelin and short-range association fibers has not received attention in Huntington’s disease.
Owen Robert Phillips, Owen Robert Phillips, Shantanu H Joshi, Ferdinando eSquitieri, Ferdinando eSquitieri, Cristina eSanchez-Castaneda, Katherine eNarr, David W Shattuck, Carlo eCaltagirone, Carlo eCaltagirone, Umberto eSabatini, Margherita eDi Paola, Margherita eDi Paola   +12 more
doaj   +1 more source