Results 91 to 100 of about 71,064 (224)

Neurodegenerative Diseases: Epidemiology, Risk Factors, Classification, Pathophysiology, Clinical Features, Diagnosis, and Therapeutic Strategies

MedComm, Volume 7, Issue 11, November 2026.
Neurodegenerative diseases share convergent risk architectures and pathological mechanisms, yet diverge in selective vulnerability, clinical presentation, and therapeutic responsiveness. This review integrates cross‐disease epidemiology, pathophysiology, diagnosis, and treatment, highlighting the transition from symptomatic care toward biomarker‐guided
Zimeng He, Jingjing Zeng, Guoqing Wang, Yuxin Li, Feng Zhang   +4 more
wiley   +1 more source

Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo‐Electron Tomography

Advanced Science, Volume 13, Issue 56, 9 October 2026.
Correlative cryo‐electron tomography in primary cortical neurons and NIID mouse brain tissue reveals that polyG inclusions are interconnected ribbon‐like assemblies rather than canonical amyloid fibrils. Multiple compartment‐specific ribbon states show distinct 26S proteasome accessibility, while cytoplasmic ribbons contact and deform ER‐like ...
Yunwen Qian, Yalan Wan, Chen Chen, Xiaoyu Zheng, Wenjing Du, Junhan Yang, Zhihao Quan, Biyu Yang, Jiaxi Yu, Jie Zheng, Zhaoxia Wang, Jianwen Deng, Qiang Guo   +12 more
wiley   +1 more source

The preclinical stage of spinocerebellar ataxias

Neurology, 2015
The autosomal dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of degenerative diseases of the cerebellum and connected regions. The discovery of various SCA genes and the subsequent possibility of predictive testing currently allow a genetic diagnosis to be established years or even decades before the actual appearance of ataxia ...
Maas, R.P., van Gaalen, J., van Gaalen, J., Klockgether, T., van de Warrenburg, B.P.C.   +4 more
openaire   +5 more sources

Cerebellar ataxias and functional movement disorders: navigating clinical overlap

BMJ Neurology Open
Background Functional movement disorders (FMDs) are commonly classified along canonical non-ataxic movement disorder patterns, creating a potential blind spot for frequently observed ataxia-like presentations. At the same time, normal diagnostic findings
Stoyan Popkirov, Dagmar Timmann, Christel Depienne, Friedrich Erdlenbruch, Andreas Thieme   +4 more
doaj   +1 more source

Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India

Annals of Indian Academy of Neurology, 2014
Background: Progressive cerebellar ataxia inherited by autosomal dominant transmission is known as Spino Cerebellar Ataxia (SCA). Aims and Objectives: To look for various clinical profile and molecular genetics of patients with SCAs and their phenotype ...
Debabrata Pulai, Deb Shankar Guin, Kalyan B Bhattacharyya, Goutam Ganguly, Anindita Joardar, Sarnava Roy, Atanu Biswas, Alak Pandit, Arijit Roy, Asit Kumar Senapati   +9 more
doaj   +1 more source

Improving Video‐Based Prediction of Cerebellar Ataxia Severity Using a Pretrained Deep Learning Model

Brain and Behavior, Volume 16, Issue 10, October 2026.
A transformer‐based deep learning model predicted SARA scores from gait videos in patients with degenerative cerebellar diseases. Pretraining with Parkinson's disease gait data modestly reduced prediction error compared with training from scratch, reaching statistical significance only for the posture and gait subscore with supervised pretraining ...
Katsuki Eguchi, Hiroaki Yaguchi, Hisashi Uwatoko, Yuki Iida, Moemi Yamada, Shinsuke Hamada, Kazunori Sato, Sanae Honma, Asako Takei, Atsushi Kawashima, Fumio Moriwaka, Toshiyuki Fukazawa, Ren Togo, Takahiro Ogawa, Miki Haseyama, Kenji Hirata, Kohsuke Kudo, Shinya Tanaka, Ichiro Yabe   +18 more
wiley   +1 more source

MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2

Case Reports in Neurology, 2017
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12.
Fumihito Yoshii, Hitoshi Tomiyasu, Ryo Watanabe, Masafuchi Ryo   +3 more
doaj   +1 more source

Whole‐Exome Sequencing Reveals the Genetic Landscape and Genotype–Phenotype Spectrum of Dystonia in a Chinese Cohort

CNS Neuroscience &Therapeutics, Volume 32, Issue 10, October 2026.
Whole‐exome sequencing of 147 Chinese patients with dystonia revealed an overall molecular diagnostic yield of 33.3%, with higher yields in generalized and childhood‐onset cases. The study expands the genotype–phenotype spectrum of established dystonia genes and provides population‐specific evidence to support genetic evaluation and molecular ...
Yiqing Gong, Huirong Peng, Zhao Chen, Jiawei He, Linliu Peng, Qian Jiang, Chunrong Wang, Linlin Wan, Lang He, Yuting Shi, Rong Qiu, Hong Jiang   +11 more
wiley   +1 more source

Clinical-cognitive Characterization of Spinocerebellar Ataxia Type 2

Revista Finlay, 2021
Background: spinocerebellar ataxia type 2 is a genetic disease with an autosomal dominant inheritance pattern. It constitutes a health problem for Cuba, especially for the Holguín province, which concentrates the largest sick and at-risk population that ...
Alberto Caballero Laguna, Luis Velázquez Pérez, Alián Pérez Marrero   +2 more
doaj   +2 more sources

Deep Brain Stimulation for Tremor Associated with Underlying Ataxia Syndromes: A Case Series and Discussion of Issues

Tremor and Other Hyperkinetic Movements, 2014
Background: Deep brain stimulation (DBS) has been utilized to treat various symptoms in patients suffering from movement disorders such as Parkinson's disease, dystonia, and essential tremor.
Genko Oyama, Amanda Thompson, Kelly D. Foote, Natlada Limotai, Muhammad Abd‐El‐Barr, Nicholas Maling, Irene A. Malaty, Ramon L. Rodriguez, Sankarasubramoney H. Subramony, Tetsuo Ashizawa, Michael S. Okun   +10 more
doaj   +1 more source