Results 111 to 120 of about 7,196 (214)

A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

Journal of Veterinary Internal Medicine, 2014
Background Juvenile‐onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years.
D. Gilliam, D.P. O'Brien, J.R. Coates, G.S. Johnson, G.C. Johnson, T. Mhlanga‐Mutangadura, L. Hansen, J.F. Taylor, R.D. Schnabel   +8 more
doaj   +1 more source

Disrupted Vestibular Nuclei Neuron Development in a Chick Model for Congenital Vestibular Disorders

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Children with syndromic, congenital vestibular disorders (CVDs) form a sac‐like inner ear with missing or truncated semicircular canals and experience delayed motor development with lifelong challenges to maintain posture and balance. How the abnormal inner ear affects downstream central vestibular neural circuitry has not been investigated ...
Elizabeth B. Bogin, Rossella Conti, Kathleen Gallagher, Kaya Oguz, Anastas Popratiloff, Kenna D. Peusner   +5 more
wiley   +1 more source

GENETICS OF SPINOCEREBELLAR ATAXIAS

, 2004
Over the last decade, more than 25 genes responsible for spinocerebellar ataxias (SCAs) have been isolated. This review classifies hereditary SCAs into two groups: autosomal dominant and recessive ataxias, and sunmiarizes the genetic features of these
Hirano, Makito, Ueno, Satoshi
core  

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias.

, 2013
Intensive scientific research devoted in the recent years to understand the molecular mechanisms or neurodegeneration in spinocerebellar ataxias (SCAs) are identifying new pathways and targets providing new insights and a better understanding of the ...
Matilla-Dueñas, Antoni, Pandolfo, Massimo, Scoles, D R, Magri, S, Sánchez, I, Brice, Alexis, McFarland, K. N., Schmidt, Thomas H., Underwood, B R, Ashizawa, T, Schmidt, Jana, Riess, Olaf, Schmidt, Thorsten, Pulst, S M, Stevanin, Giovanni, Taroni, F, Schmidt, J, Rubinsztein, D C   +17 more
core   +1 more source

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles

Movement Disorders, EarlyView.
Cecilia Marelli, Quentin Charret, Cyril Goizet, Julien Thevenon, Virginie Bernard, Fabienne Ory Magne, Manon Degoutin, Patricia Fergelot, Mathilde Renaud, Michel Koenig, Francis Ramond   +10 more
wiley   +1 more source

The Safety of Treating Women With Inflammatory Bowel Disease With Allopurinol and Low‐Dose Thiopurine During Pregnancy: A Single‐Center Experience

JCC Plus, Volume 1, Issue 4, July 2026.
ABSTRACT Background Low‐dose thiopurine therapy in combination with allopurinol (LD‐THIO/ALLO) is a widely used treatment for inflammatory bowel disease (IBD). However, little is known about the effects of in utero exposure to this combination on pregnancy and birth outcomes.
Kavitha Sivananthan, Signe Wildt, Marianne Kiszka‐Kanowitz, Gitte Pedersen, Ida Vind, Inge Nordgaard‐Lassen, Andreas Munk Petersen, Johan Burisch, Helle Kristensen, Klaus Theede   +9 more
wiley   +1 more source

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia

Brain Sciences
Background: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features.
Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone, Gessica Vasco, Francesca Cumbo, Vito Luigi Colona, Adele D’Amico, Enrico Bertini, Francesco Nicita   +8 more
doaj   +1 more source

Epilepsy in spinocerebellar ataxia type 8: a case report

Journal of Medical Case Reports, 2019
Background Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities.
Arun Swaminathan
doaj   +1 more source

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT 2‐oxyglutarate dehydrogenase (OGDH) encodes an E1 component of α‐ketoglutarate dehydrogenase complex that plays a pivotal role in the Krebs cycle. Biallelic variants in OGDH have been reported to cause an early‐onset neurodevelopmental and mitochondrial disorder.
Liedewei Van de Vondel, Gyu S. Lee, Jonathan De Winter, Satoshi Matsuzaki, Abigail Sandoval, Juan Felipe Ramirez, Alice Monticelli, Sukyeong Lee, Rita Horvath, Jan de Bleecker, Stephan Züchner, Kenneth M. Humphries, Jonathan Baets, Wan Hee Yoon   +13 more
wiley   +1 more source

Nonmotor symptoms in spinocerebellar ataxias (SCAs)

, 2019
Nonmotor symptoms (NMS) have been increasingly recognized in a number of neurodegenerative diseases with a burden of disability that parallels or even surpasses that induced by motor symptoms.
Moscovich, Mariana, Camargo, Carlos H F, Munhoz, Renato P, Teive, Hélio A G, Farah, Marina, Moro, Adriana   +5 more
core   +1 more source