Works about CEREBELLAR ataxia

Results: 2032

The clinical and neuroradiological features of hypertrophic olivary degeneration following brainstem stroke.

Published in:

Neurological Sciences, 2025, v. 46, n. 6, p. 2697, doi. 10.1007/s10072-025-08057-2

By:

Zhang, Ziqu;
Jian, Wen;
Li, Nan;
Gao, Xin;
Chen, Lin;
Zhang, Xiaowei;
Cai, Dan;
He, Jianle;
Nie, Yaqiong;
Shen, Yaoyao

Publication type:

Article

Bowing Index in Individuals With Parkinson's Disease, Progressive Supranuclear Palsy, and Ataxia.

Published in:

Laryngoscope, 2025, v. 135, n. 6, p. 2081, doi. 10.1002/lary.31993

By:

Tipton, Courtney B.;
Borders, J.C.;
Curtis, J.A.;
Troche, M.S.

Publication type:

Article

Clinical Evaluation of N‐Acetyl‐l‐Leucine in Niemann–Pick Disease Type C: A Critical Perspective.

Published in:

Movement Disorders Clinical Practice, 2025, v. 12, n. 5, p. 592, doi. 10.1002/mdc3.70041

By:

Lopez, Gala;
Holgado, Carla

Publication type:

Article

Improvement of Motor Function in SLC39A8‐Related Ataxia Through Manganese Supplementation: A Therapeutic Insight.

Published in:

Movement Disorders Clinical Practice, 2025, v. 12, n. 5, p. 677, doi. 10.1002/mdc3.70001

By:

Portela, Denise Maria Meneses Cury;
Guimarães, Thiago Gonçalves;
de Morais, Sandra Tuany Alves;
de Araújo, Natália Rebeca Alves;
de Sousa Araújo, Luana Larisse;
Vasconcelos, Vinicius Santana;
Noleto, Gustavo Sousa;
da Costa Braga, Patricia Maria;
Camargos, Sarah Teixeira

Publication type:

Article

Novel Gene Mutation Variant in Hypomyelinating Leukodystrophy-8: A Case Report.

Published in:

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2024, v. 17, n. 6, p. 1251, doi. 10.4103/mjdrdypu.mjdrdypu_843_23

By:

Rohatgi, Shalesh;
Khandait, Pranit;
Nirhale, Satish;
Rao, Prajwal;
Naphade, Pravin

Publication type:

Article

Vanishing White Matter Disease: A Case Report and Review of Literature.

Published in:

Pakistan Armed Forces Medical Journal, 2025, v. 75, n. 2, p. 424, doi. 10.51253/pafmj.v75i2.7991

By:

Ali, Sana;
Nadeem, Muhammad Sohaib;
Shabab, Amir;
Ali, Ujala

Publication type:

Article

Repeatability, reliability, and stability of eye movement measurements in Parkinson's disease, cerebellar ataxia, and healthy adults.

Published in:

Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1556314

By:

Dalbro, Solveig E. J.;
Elsais, Ahmed;
Rydning, Siri Lynne;
Toft, Mathias;
Kerty, Emilia;
Larsen, Stig E.

Publication type:

Article

Unveiling the Mysteries of Rare Neuroimmunological Disorders.

Published in:

Clinical & Experimental Neuroimmunology, 2025, v. 16, n. 2, p. 148, doi. 10.1111/cen3.70009

By:

Yamano, Yoshihisa

Publication type:

Article

Autoimmune cerebellar ataxia: An overlooked, but treatable, neuroimmune condition.

Published in:

Clinical & Experimental Neuroimmunology, 2025, v. 16, n. 2, p. 161, doi. 10.1111/cen3.70004

By:

Yaguchi, Hiroaki;
Kudo, Akihiko;
Yabe, Ichiro

Publication type:

Article

Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome Coexisting With JAK2-Positive Polycythemia Vera and Myelofibrosis.

Published in:

Ochsner Journal, 2025, v. 25, n. 1, p. 50, doi. 10.31486/toj.24.0056

By:

Saibaba, Jayaram;
Selvaraj, Jayachandran;
Viswanathan, Stalin;
Pillai, Vivekanandan

Publication type:

Article

A Case Series of Anti-Metabotropic Glutamate Receptor 2 Antibody-Related Diseases with Distinct Neurological Involvement.

Published in:

2025

By:

Zhang, Zhanwei;
Deng, Xiaolu;
Guo, Dandan;
Zhao, Jie;
Li, Jian;
He, Fang;
Yang, Lifen;
Peng, Jing

Publication type:

Case Study

Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02151-2

By:

Liu, Hui;
Li, Ranran;
Chen, Chen;
Shang, Lin;
Bai, Ying;
Chen, Duo;
Kong, Xiangdong;
Li, Qianqian

Publication type:

Article

Metronidazole induced cerebellar ataxia.

Published in:

Indian Journal of Pharmacology, 2013, v. 45, n. 3, p. 295, doi. 10.4103/0253-7613.111903

By:

Hari, Aditya;
Srikanth, B. Akshaya;
Lakshmi, G. Sriranga

Publication type:

Article

Angelman syndrome as a rare anaesthetic problem.

Published in:

2004

By:

Bujok, Grzegorz;
Knapik, Piotr

Publication type:

Letter

Presenile onset of spinocerebellar ataxia type 1 presenting with conspicuous psychiatric symptoms and widespread anti-expanded polyglutamine antibody- and fused in sarcoma antibody-immunopositive pathology.

Published in:

Psychogeriatrics, 2015, v. 15, n. 3, p. 212, doi. 10.1111/psyg.12122

By:

Iwasaki, Yasushi;
Mori, Keiko;
Ito, Masumi;
Mimuro, Maya;
Yoshida, Mari

Publication type:

Article

Immune Ataxias: The Continuum of Latent Ataxia, Primary Ataxia and Clinical Ataxia.

Published in:

Journal of Integrative Neuroscience, 2024, v. 23, n. 4, p. 1, doi. 10.31083/j.jin2304079

By:

Manto, Mario;
Hiroshi Mitoma

Publication type:

Article

R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update.

Published in:

2012

By:

Cristofori, Andrea;
Fusi, Laura;
Gomitoni, Antonella;
Grampa, Giampiero;
Bersano, Anna

Publication type:

Report

MRI features of neurodegenerative Langerhans cell histiocytosis.

Published in:

2006

By:

Martin-Duverneuil, N.;
Idbaih, A.;
Hoang-Xuan, K.;
Donadieu, J.;
Genereau, T.;
Guillevin, R.;
Chiras, J.;
French Langerhans Cell Histiocytosis Study Group

Publication type:

journal article

Pediatric post-operative cerebellar mutism syndrome, cerebellar cognitive affective syndrome, and posterior fossa syndrome: historical review and proposed resolution to guide future study.

Published in:

Child's Nervous System, 2020, v. 36, n. 6, p. 1205, doi. 10.1007/s00381-019-04253-6

By:

Schmahmann, Jeremy D.

Publication type:

Article

Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report.

Published in:

Child's Nervous System, 2020, v. 36, n. 4, p. 873, doi. 10.1007/s00381-019-04399-3

By:

Zhang, Liping;
Jia, Yu;
Qi, Xiaohong;
Li, Mingyu;
Wang, Shiyu;
Wang, Yuping

Publication type:

Article

Onyx embolization of a ruptured anterior inferior cerebellar artery in a neonate.

Published in:

Child's Nervous System, 2019, v. 35, n. 2, p. 373, doi. 10.1007/s00381-018-3968-6

By:

CreveCoeur, Travis S.;
Salehi, Afshin;
Miller, Brandon A.;
Austin, Matthew J.;
Cross, Dewitte T.;
Smyth, Matthew D.

Publication type:

Article

Cerebellopontine angle medulloblastoma with extensive nodularity in a child: case report and review of the literature.

Published in:

Child's Nervous System, 2017, v. 33, n. 5, p. 839, doi. 10.1007/s00381-016-3325-6

By:

Noiphithak, Raywat;
Yindeedej, Vich;
Thamwongskul, Chatchai

Publication type:

Article

Ectopic cerebellar tissue of the posterior cranial fossa: diffusion tensor tractography and MR spectroscopy findings.

Published in:

Child's Nervous System, 2016, v. 32, n. 1, p. 195, doi. 10.1007/s00381-015-2826-z

By:

Gunbey, Hediye;
Bilgici, Meltem;
Aslan, Kerim;
Aygün, Canan;
Celik, Handan

Publication type:

Article

Etiology and Course of Cerebellar Ataxia: A Study from Eastern India.

Published in:

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023, v. 16, n. 4, p. 591, doi. 10.4103/mjdrdypu.mjdrdypu_314_21

By:

Bhuin, Subhas;
Biswas, Samar;
Roy, Arijit;
Mukherjee, Adreesh;
Pandit, Alak;
Gangopadhyay, Goutam

Publication type:

Article

The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population.

Published in:

Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcae479

By:

Livanos, Ioannis;
Votsi, Christina;
Michailidou, Kyriaki;
Pellerin, David;
Brais, Bernard;
Zuchner, Stephan;
Pantzaris, Marios;
Kleopa, Kleopas A;
Papanicolaou, Eleni Zamba;
Christodoulou, Kyproula

Publication type:

Article

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Published in:

Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcae453

By:

Kaiyrzhanov, Rauan;
Thompson, Kyle;
Efthymiou, Stephanie;
Mukushev, Askhat;
Zharylkassyn, Akbota;
Prasad, Chitra;
Karimiani, Ehsan Ghayoor;
Alvi, Javeria Raza;
Niyazov, Dmitriy;
Alahmad, Ahmad;
Babaei, Meisam;
Tajsharghi, Homa;
Albash, Buthaina;
Alaqeel, Ahmad;
Charif, Majida;
Hashemi, Narges;
Heidari, Morteza;
Kalantar, Seyed Mehdi;
Lenaers, Guy;
Mehrjardi, Mohammad Yahya Vahidi

Publication type:

Article

Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies.

Published in:

Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae163

By:

Nagy, Sara;
Carr, Aisling;
Mroczek, Magdalena;
Rinaldi, Simon;
Curro, Riccardo;
Dominik, Natalia;
Japzon, Nicole;
Magrinelli, Francesca;
Lunn, Michael P;
Manji, Hadi;
Reilly, Mary M;
Cortese, Andrea;
Houlden, Henry

Publication type:

Article

Impaired cognitive flexibility and disrupted cognitive cerebellum in degenerative cerebellar ataxias.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae064

By:

Shin, Jung Hwan;
Kim, Heejung;
Lee, So Yeon;
Yoon, Won Tae;
Park, Sun-Won;
Park, Sangmin;
Yoo, Dallah;
Lee, Jee-Young

Publication type:

Article

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.

Published in:

Brain Communications, 2023, v. 5, n. 4, p. 1, doi. 10.1093/braincomms/fcad208

By:

Scriba, Carolin K.;
Stevanovski, Igor;
Chintalaphani, Sanjog R.;
Gamaarachchi, Hasindu;
Ghaoui, Roula;
Ghia, Darshan;
Henderson, Robert D.;
Jordan, Nerissa;
Winkel, Antony;
Lamont, Phillipa J.;
Rodrigues, Miriam J.;
Roxburgh, Richard H.;
Weisburd, Ben;
Laing, Nigel G.;
Deveson, Ira W.;
Davis, Mark R.;
Ravenscroft, Gianina

Publication type:

Article

Brain MRI detects early-stage alterations and disease progression in Friedreich ataxia.

Published in:

Brain Communications, 2023, v. 5, n. 4, p. 1, doi. 10.1093/braincomms/fcad196

By:

Adanyeguh, Isaac M.;
Joers, James M.;
Deelchand, Dinesh K.;
Hutter, Diane H.;
Eberly, Lynn E.;
Guo, Bin;
Iltis, Isabelle;
Bushara, Khalaf O.;
Henry, Pierre-Gilles;
Lenglet, Christophe

Publication type:

Article

Reduced likelihood of the Poggendorff illusion in cerebellar strokes: a clinical and neuroimaging study.

Published in:

Brain Communications, 2023, v. 5, n. 2, p. 1, doi. 10.1093/braincomms/fcad053

By:

Yuichi Higashiyama;
Miho Kuroki;
Yosuke Kudo;
Tomoya Hamada;
Keisuke Morihara;
Asami Saito;
Yosuke Miyaji;
Katsuo Kimura;
Hideto Joki;
Hitaru Kishida;
Hiroshi Doi;
Naohisa Ueda;
Hideyuki Takeuchi;
Ken Johkura;
Fumiaki Tanaka

Publication type:

Article

Physiotherapy in Kinsbourne syndrome: a case report.

Published in:

2018

By:

Roberto Fonseca Junior, Paulo;
de Lima Santana, Daiane;
Marques Covolo, Natália;
Ranieri Scaransi, Catharine;
Donato do Vale, Vanessa

Publication type:

Case Study

ATAXIA IN A CHILD: A RARE PRESENTATION OF A RARE ENTITY.

Published in:

2018

By:

Pandey, Swetal C;
Rath, Prasan Deep;
Mittal, Rekha;
Bhasin, Shaloo

Publication type:

Case Study

A - 103 Exploring the Diagnostic Criteria for Alcohol-Related Dementia: a Case Study.

Published in:

2024

By:

Vazir, Sheila;
Klein, Hannah;
Kearns, Kelly

Publication type:

Case Study

A - 49 Neuropsychological and Clinical Features of Ataxia Due to CACNA1A (P.1661H) Mutation: a Case Study.

Published in:

2023

By:

Hagy, Hannah;
Hill, Gianna;
Lacy, Maureen

Publication type:

Case Study

Selective Patterns of Cognitive Impairment in Spinocerebellar Ataxia Type 6 and Idiopathic Late-Onset Cerebellar Ataxia.

Published in:

Archives of Clinical Neuropsychology, 2018, v. 33, n. 4, p. 427, doi. 10.1093/arclin/acx077

By:

Rentiya, Zubir S.;
Jung, Brian C.;
Bae, Junun;
Liszewski, Christine M.;
Fishman, Ann;
Du, Annie X.;
Margolis, Russell L.;
Ying, Sarah H.

Publication type:

Article

Underlying coeliac disease in a case of cerebellar ataxia with unknown etiology.

Published in:

Archive of Clinical Cases, 2019, v. 6, n. 1, p. 22, doi. 10.22551/2019.22.0601.10149

By:

Jain, Deepak;
Bhaduri, Gourab;
Giri, Kajaree;
Balania, Vikas;
Jain, Promil

Publication type:

Article

Diverticulum of the third ventricle and absence of the interthalamic adhesion in a dog.

Published in:

2012

By:

Mateo, Isidro

Publication type:

Case Study

Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7‐Year Follow‐Up With Clinical, Genetic, and ACMG Insights in an Iranian Family.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70081

By:

Kalayinia, Samira;
Hesami, Hamed;
Badv, Reza Shervin;
Rabbani, Maryam;
Rezaei, Zahra;
Hosseinkhani, Zohreh;
Nikbakht, Sedighe;
Sharifi, Ameneh;
Akbari, Bahman;
Mirab Samiee, Siamak;
Mahdieh, Nejat

Publication type:

Article

A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.70044

By:

Masuko, Shinji;
Sato, Mitsuto;
Nakamura, Katsuya;
Hamanaka, Kohei;
Miyatake, Satoko;
Inaba, Yuji;
Kosho, Tomoki;
Matsumoto, Naomichi;
Sekijima, Yoshiki

Publication type:

Article

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 10, p. 1, doi. 10.1002/mgg3.70007

By:

Kraoua, Ichraf;
Jamoussi, Maha;
Drissi, Cyrine;
Kraoua, Lilia;
Drunat, Séverine;
Benrhouma, Hanene;
Ben Younes, Thouraya;
Nagi, Sonia;
Abdelhak, Sonia;
Boespflug Tanguy, Odile;
Youssef‐Turki, Ilhem Ben;
Trabelsi, Mediha;
Dorboz, Imen

Publication type:

Article

Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 8, p. 1, doi. 10.1002/mgg3.2505

By:

Dobloug, Sigurd;
Kjellström, Ulrika;
Anderson, Glenn;
Gardner, Emily;
Mole, Sara E.;
Sheth, Jayesh;
Puschmann, Andreas

Publication type:

Article

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2483

By:

Chamova, Teodora;
Ivanova, Neviana;
Cherninkova, Sylvia;
Koleva, Maya;
Zlatareva, Dora;
Bojinova, Veneta;
Mihova, Kalina;
Georgiev, Martin;
Ferdinandov, Dilyan;
Bichev, Stoyan;
Kaneva, Radka;
Mitev, Vanio;
Jordanova, Albena;
Tournev, Ivailo

Publication type:

Article

Discovery of a de novo ITPR1 missense mutation in a patient with early‐onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2466

By:

In Lee, Jae;
Choi, Ja Young;
Yang, Shin‐Seung

Publication type:

Article

The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2328

By:

Zhao, Yang;
Hou, Yue;
Zhao, Xutong;
Liufu, Tongling;
Yu, Meng;
Zhang, Wei;
Xie, Zhiying;
Zhang, Victor Wei;
Yuan, Yun;
Wang, Zhaoxia

Publication type:

Article

Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1906

By:

Vo, Mary L.;
Levy, Tess;
Lakhani, Shenela;
Wang, Chengbing;
Ross, M. Elizabeth

Publication type:

Article

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1772

By:

Biela, Mateusz;
Rydzanicz, Malgorzata;
Szymanska, Krystyna;
Pieniawska‐Smiech, Karolina;
Lewandowicz‐Uszynska, Aleksandra;
Chruszcz, Joanna;
Benben, Lucyna;
Kuzior‐Plawiak, Malgorzata;
Szyld, Pawel;
Jakubiak, Aleksandra;
Szenborn, Leszek;
Ploski, Rafal;
Smigiel, Robert

Publication type:

Article

SQSTM1 mutation: Description of the first Tunisian case and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1543

By:

Akkari, M.;
Kraoua, I.;
Klaa, H.;
Benrhouma, H.;
Ben Younes, T.;
Rouissi, A.;
Chaabouni, M.;
Ben Youssef‐Turki, I.

Publication type:

Article

Primary coenzyme Q10 deficiency due to COQ8A gene mutations.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1420

By:

Zhang, Linwei;
Ashizawa, Tetsuo;
Peng, Dantao

Publication type:

Article

VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1108

By:

Koh, Kishin;
Ishiura, Hiroyuki;
Shimazaki, Haruo;
Tsutsumiuchi, Michiko;
Ichinose, Yuta;
Nan, Haitian;
Hamada, Shun;
Ohtsuka, Toshihisa;
Tsuji, Shoji;
Takiyama, Yoshihisa

Publication type:

Article