Results 71 to 80 of about 28,732 (186)

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

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
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

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

The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease

Brain Pathology, Volume 36, Issue 5, September 2026.
SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery, Sofia Bergh, Chrisovalantou Huridou, Rachel Y. Cheong, Barbara Baldo, Paul Günther Scheunemann, Marie‐Louisa Schoebel, Linda Holmquist Mengelbier, Elisabet Englund, Catriona McLean, Carsten Saft, Deniz Kirik, Maria Björkqvist, Glenda Halliday, Elisabeth Petrasch‐Parwez, Huu Phuc Nguyen, Jonasz Jeremiasz Weber, Åsa Petersén   +17 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

GAA‐FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset Ataxia

Clinical Genetics, Volume 110, Issue 3, Page 358-362, September 2026.
GAA‐FGF14 ataxia is a frequent cause of both familial and sporadic cerebellar ataxia. If symptoms are consistent, targeted testing of the FGF14 locus should be considered as a first‐line approach, as the diagnostic yield is up to 50%. ABSTRACT GAA‐FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult‐onset ...
Eva‐Maria Kraus, Johannes Lenz, Pauline Ploettner, Patricia Duffek, Jost‐Julian Rumpf, Rami Abou Jamra, John Wiedenhoeft, Denny Popp   +7 more
wiley   +1 more source

Ca2+ signaling and spinocerebellar ataxia

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2018
Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily characterized by gait ataxia, and additional clinical features include nystagmus, dysarthria, tremors and cerebellar atrophy. Forty-four hereditary SCAs have been identified to date, along with >35 SCA-associated genes. Despite
Chihiro, Hisatsune, Kozo, Hamada, Katsuhiko, Mikoshiba   +2 more
openaire   +2 more sources

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?

Journal of Neuroscience Research, Volume 104, Issue 8, August 2026.
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Jenny Lange, Erica Zhao, Ellie O'Connell, Olivia Gillham, Amy McTague   +4 more
wiley   +1 more source