Results 51 to 60 of about 81,081 (302)

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

BMC Medical Genetics, 2020
Background The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive
Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami   +8 more
doaj   +1 more source

Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report

BMC Medical Genomics, 2023
Background Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagmus, intention tremor, ataxic ...
Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari, Masoud Garshasbi   +4 more
doaj   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Probable Anti-Glutamate Decarboxylase 65 (Gad65) Antibody-Associated Cerebellar Ataxia. Clinical Case Report and Literature Review

Neurologijos seminarai, 2023
Introduction. As more information about cerebellar ataxia induced by anti- GAD65 antibodies is accumulated, cerebellar dysfunction is increasingly associated with autoimmune causes.
J. Valinčiūtė, P. Petkevičiūtė, R. Balnytė, J. Čiauškaitė   +3 more
doaj   +1 more source

Differential diagnostic relevance of high resolution magnetic resonance in patients with possible multiple system atrophy (MSA) – a case report [Važnost uporabe magnetne rezonancije visoke rezolucije u dijagnostici moguće multiple sistemske atrofije - prikaz slučaja] [PDF]

, 2011
Multiple system atrophy (MSA) is sporadic, progressive neurodegenerative disorder characterized clinically by autonomic dysfunction, Parkinsonism (MSA-P), and cerebellar ataxia (MSA-C) in any combination.
Bačić Baronica, Koraljka, Ivkić, Goran, Miličević, Goran, Ozretić, David   +3 more
core  

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

Cerebellar Ataxia from Multiple Potential Causes: Hypothyroidism, Hashimoto's Thyroiditis, Thalamic Stimulation, and Essential Tremor

Tremor and Other Hyperkinetic Movements, 2012
Background: Both hypothyroidism and Hashimoto's thyroiditis (HT) can rarely be associated with cerebellar ataxia. Severe essential tremor (ET) as well as bilateral thalamic deep brain stimulation (DBS) may lead to subtle cerebellar signs. Case Report:
Natalya V. Shneyder, Mark K. Lyons, Erika Driver-Dunckley, Virgilio Gerald H. Evidente   +3 more
doaj   +1 more source

Proinflammatory activation of microglia in the cerebellum hyperexcites Purkinje cells to trigger ataxia

Pharmacological Research, 2023
Specific medications to combat cerebellar ataxias, a group of debilitating movement disorders characterized by difficulty with walking, balance and coordination, are still lacking.
Shu-Tao Xie, Wen-Chu Fan, Xian-Sen Zhao, Xiao-Yang Ma, Ze-Lin Li, Yan-Ran Zhao, Fa Yang, Ying Shi, Hui Rong, Zhi-San Cui, Jun-Yi Chen, Hong-Zhao Li, Chao Yan, Qipeng Zhang, Jian-Jun Wang, Xiao-Yang Zhang, Xiao-Ping Gu, Zheng-Liang Ma, Jing-Ning Zhu   +18 more
doaj   +1 more source

IVIG Delays Onset in a Mouse Model of Gerstmann-Sträussler-Scheinker Disease [PDF]

, 2019
Our previous studies showed that intravenous immunoglobulin (IVIG) contained anti-Aβ autoantibodies that might be able to treat Alzheimer's disease (AD).
Dodel, Richard, Du, Eileen, Du, Yansheng, Farlow, Martin R., Gu, Huiying, Kirchhein, Yvonne, Liu, Junyi, Mastrianni, James A., Peng, Hongjun, Zhao, Gang, Zhu, Timothy   +10 more
core   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source