Results 51 to 60 of about 4,904,701 (256)

Additional file 7: of The dynamics of early-state transcriptional changes and aggregate formation in a Huntingtonâ s disease cell model

, 2017
Expression profiles for all fourteen clusters created using the CLICK algorithm (Expander). Expression patterns for all clusters were standardized to mean zero and standard deviation one. Error bars correspond to one standard deviation. (PDF 360 kb)
Hagen, Martijn Van, Piebes, Diewertje, Leeuw, Wim De, Vuist, Ilona, Roon-Mom, Willeke Van, Moerland, Perry, Pernette Verschure   +6 more
openaire   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Juvenile Huntington’s disease: two case reports and a review of the literature

Journal of Medical Case Reports, 2020
Background Huntington’s disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Usually, the disease symptoms first appear around the age of 40, but in 5–10% of cases, they manifest ...
Sigita Lesinskienė, Darja Rojaka, Rūta Praninskienė, Aušra Morkūnienė, Aušra Matulevičienė, Algirdas Utkus   +5 more
doaj   +1 more source

Identification and evaluation of biomarkers for Huntington’s disease [PDF]

, 2009
Huntington’s disease (HD) is a devastating, incurable inherited neurodegenerative disorder that commonly affects adults in mid-life. Despite encouraging results from in vitro and animal trials, disease-modifying therapeutic trials in HD are limited by ...
Wild, E.J.
core  

Copine‐4 Paraneoplastic Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We characterize copine‐4 (CPNE4)‐IgG and report clinical associations. Among 844 samples with unclassified neural IgGs identified by mouse‐brain indirect immunofluorescence assay over 2 years, 5 samples (serum, 3; CSF, 2) from 3 patients produced a distinctive cerebrum‐restricted synaptic pattern.
Mimi S. Fang, Amy Ml Quek, Clement Yong, Amir Adeli, Gabrielle N. Conway, Connie E. Lesnick, Diana Anissian, Divyanshu Dubey, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael Gilligan, Andrew McKeon   +12 more
wiley   +1 more source

Monkey hybrid stem cells develop cellular features of Huntington's disease

BMC Cell Biology, 2010
Background Pluripotent stem cells that are capable of differentiating into different cell types and develop robust hallmark cellular features are useful tools for clarifying the impact of developmental events on neurodegenerative diseases such as ...
Lorthongpanich Chanchao, Johnson Zach, Yang Shang-Hsun, Snyder Brooke R, Cheng Pei-Hsun, Cheng Eric CH, Laowtammathron Chuti, Kuo Hung-Chih, Parnpai Rangsun, Chan Anthony WS   +9 more
doaj   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Cholinergic deficits selectively boost cortical intratelencephalic control of striatum in male Huntington’s disease model mice

Nature Communications, 2023
The corticostriatal dysfunction underlying Huntington’s disease remains incompletely understood. Here, the authors find increased intratelencephalic connectivity resulting from deficient cholinergic transmission in a mouse model of Huntington’s disease.
Tristano Pancani, Michelle Day, Tatiana Tkatch, David L. Wokosin, Patricia González-Rodríguez, Jyothisri Kondapalli, Zhong Xie, Yu Chen, Vahri Beaumont, D. James Surmeier   +9 more
doaj   +1 more source

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li, Zhi‐Xian Ye, Xuan‐Yu Chen, Liang‐Liang Qiu, Zhi‐li Chen, Yu‐Sen Qiu, Wei Lin, Ru‐Ying Yuan, Xin‐Tong Yu, Chun‐Yu Huang, Xin‐Yuan Chen, Min‐Ting Lin, Jian‐Ping Hu, Wan‐Jin Chen, Ning Wang, Shao‐Bo Yao, Shi‐Rui Gan, Ying Fu   +17 more
wiley   +1 more source

Huntington's Disease

Pediatric Neurology Briefs, 1989
The positron-emission tomography (PET) findings in a seven year old girl with the juvenile form of Huntington's disease are described from the Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal, Canada.
J Gordon Millichap
doaj   +1 more source