Results 41 to 50 of about 127,473 (295)

Parkinsonism with a Hint of Huntington’s from 29 CAG Repeats in HTT

Brain Sciences, 2019
Huntington’s disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27−35 repeats) also display a subtle phenotype. This patient had a slightly elongated CAG
Sipilä JOT
doaj   +1 more source

Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage

Frontiers in Physiology, 2023
Introduction: Huntington disease is an autosomal dominant neurodegenerative disorder which is caused by a CAG repeat expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein.
Fanny L. Lemarié, Shaun S. Sanders, Yen Nguyen, Dale D. O. Martin, Michael R. Hayden   +4 more
doaj   +1 more source

Huntington’s disease: Neuropsychiatric manifestations of Huntington’s disease [PDF]

Australasian Psychiatry, 2018
Objectives: Huntington’s disease (HD) is a profoundly incapacitating, and ultimately fatal, neurodegenerative disease. HD is presently incurable, so the current goal is to allow affected individuals to live as well as possible with the illness, to maximise functional independence and quality of life for the person with HD, their carers and family ...
Anita MY Goh, Pierre Wibawa, Samantha M Loi, Mark Walterfang, Dennis Velakoulis, Jeffrey CL Looi   +5 more
openaire   +3 more sources

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Palliative Care in Huntington Disease: Personal Reflections and a Review of the Literature

Tremor and Other Hyperkinetic Movements, 2017
Background Huntington disease is a fatal, autosomal dominant, neurodegenerative disorder manifest by the triad of a movement disorder, behavioral disturbances, and dementia.
Christopher G. Tarolli, Amy M. Chesire, Kevin M. Biglan   +2 more
doaj   +1 more source

Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi, Caroline Gochanour, Seung Ho Choi, Hyunkeun Cho, Chelsea Caspell‐Garcia, Christopher Coffey, Michael Brumm, David‐Erick Lafontant, Yuge Xiao, Thomas Tropea, John Seibyl, Caroline Tanner, Charles S. Venuto, Karl Kieburtz, Lana M. Chahine, Kathleen L. Poston, Andrew Siderowf, Kenneth Marek, Tanya Simuni, The Parkinson's Progression Markers Initiative   +19 more
wiley   +1 more source

Hydrogen Isotope Exchange in Pyridine Catalyzed by an Iron(II) Imido Complex: Counterion‐Directed Regioselectivity

Angewandte Chemie, EarlyView.
Anionic high‐spin iron(II) imido complexes are catalysts for the hydrogen isotope exchange (HIE) reaction with pyridine as the substrate. The alkali metal counter‐cation plays critical roles in activating the substrate and facilitating deuteration. These complexes catalyze site‐selective α‐, α,β,γ‐, and β,γ‐deuteration of pyridine, where the counter ...
Bin Feng, Guorong Li, Yafei Gao, Nobuyuki Yamamoto, Maren Pink, Qian Peng, Jeremy M. Smith   +6 more
wiley   +2 more sources

Testicular degeneration in Huntington disease

Neurobiology of Disease, 2007
Huntington disease (HD) is an adult onset, neurodegenerative disorder that results from CAG expansion in the HD gene. Recent work has demonstrated testicular degeneration in mouse models of HD and alterations in the hypothalamic–pituitary–gonadal (HPG ...
Jeremy M. Van Raamsdonk, Zoe Murphy, David M. Selva, Reza Hamidizadeh, Jacqueline Pearson, Ǻsa Petersén, Maria Björkqvist, Cameron Muir, Ian R. Mackenzie, Geoffrey L. Hammond, A. Wayne Vogl, Michael R. Hayden, Blair R. Leavitt   +12 more
doaj   +1 more source

Protein Aggregates and Polyglutamine Tracts In Neurodegenerative Disease [PDF]

, 2018
The incidence of neurodegenerative diseases such as Alzheimer\u27s Disease, Parkinson\u27s Disease, Huntington\u27s Disease and other Polyglutamine Diseases is projected to dramatically increase throughout the developed world, and yet the pathology of ...
Mack, John
core   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source