Results 21 to 30 of about 2,684 (177)

Chromatin Regulation of DNA Damage Repair and Genome Integrity in the Central Nervous System [PDF]

, 2017
With the continued extension of lifespan, aging and age-related diseases have become a major medical challenge to our society. Aging is accompanied by changes in multiple systems. Among these, the aging process in the central nervous system is critically
Pan, Ling, Penney, Jay, Tsai, Li-Huei
core   +1 more source

Gait rhythm analysis as a new continuous scale for cerebellar ataxia: Power law and lognormal components represent the ataxic gait quantity

Neuroscience Research
We estimated the severity of cerebellar ataxia by analyzing gait rhythm. We measured the step times in patients with pure cerebellar ataxia and healthy controls and then analyzed the distribution of the ratios of adjacent times. Gait rhythm displayed the
Ryoji Goto, Koichiro Oba, Kyota Bando, Kyoko Todoroki, Junichiro Yoshida, Daisuke Nishida, Katsuhiro Mizuno, Hidehiro Mizusawa, Yuji Takahashi   +8 more
doaj   +1 more source

RPGR-associated retinal degeneration in human X-linked RP and a murine model [PDF]

, 2012
PURPOSE. We investigated the retinal disease due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in human patients and in an Rpgr conditional knockout (cko) mouse model. METHODS. XLRP patients with RPGR-ORF15 mutations (n = 35, ages
Bell, Peter, Cideciyan, Artur V., Gewaily, Dina Y., Huang, Wei Chieh, Jacobson, Samuel G., Limberis, Maria P., Manson, Forbes, Manson, Forbes D., Roman, Alejandro J., Sadigh, Sam, Schwartz, Sharon B., Swaroop, Anand, Wilson, James M., Wright, Alan F.   +13 more
core   +1 more source

Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. [PDF]

, 2014
We report the case of a 75-year-old ex-professional boxer who developed diplopia and eye movement abnormalities in his 60's followed by memory impairment, low mood and recurrent falls.
Hardy, J, Holton, JL, Houlden, H, Kara, E, Lees, AJ, Ling, H, Martino, D, Plant, GT, Revesz, T   +8 more
core   +2 more sources

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

Current status of gene therapy research in polyglutamine spinocerebellar ataxias [PDF]

, 2021
Polyglutamine spinocerebellar ataxias (PolyQ SCAs) are a group of 6 rare autosomal dominant diseases, which arise from an abnormal CAG repeat expansion in the coding region of their causative gene.
Afonso, Inês T., Afonso-Reis, Ricardo, Nóbrega, Clévio   +2 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Creation of a novel algorithm to identify patients with Becker and Duchenne muscular dystrophy within an administrative database and application of the algorithm to assess cardiovascular morbidity [PDF]

, 2019
BACKGROUND: Outcome analyses in large administrative databases are ideal for rare diseases such as Becker and Duchenne muscular dystrophy. Unfortunately, Becker and Duchenne do not yet have specific International Classification of Disease-9/-10 codes.
Burnette, W. Bryan, Chisolm, Joanne, Godown, Justin, Hall, Matthew, Hor, Kan, Markham, Larry W., Slaughter, James C., Soslow, Jonathan H., Spurney, Christopher, Xu, Meng   +9 more
core   +1 more source

Convergence Deficits in Myoclonus‐Dystonia Point to Cerebellar Impairment

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Myoclonus‐dystonia (M‐D) is a monogenic movement disorder, with proposed cerebellar dysfunction. Vergence eye movement deficits, characteristics of degenerative cerebellar disease, have not been studied in M‐D. Cerebellar transcranial alternating current stimulation (tACS) is considered a potential therapeutic approach.
Skadi Gerkensmeier, Christina Bolte, Jan‐Ole Radecke, Feline Hamami, Andreas Sprenger, Christoph Helmchen, Robert Chen, Marcus Callister, Talyta Cortez Grippe, Christine Klein, Norbert Brüggemann, Tobias Bäumer, Alexander Münchau, Anne Weissbach   +13 more
wiley   +1 more source