Results 71 to 80 of about 6,068 (173)
Pediatric Neurology Briefs, 1988 The onset below 15 years of age of autosomal dominant spinocerebellar ataxia (SCA) in 6 of 41 affected patients is reported from the Dept of Pediatrics, Baylor College of Medicine, Houston, TX.
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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. +4 more
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Autophagy at the Crossroads of Protein and RNA Toxicity in Repeat Expansion Cerebellar Ataxias
CellsRepeat expansion cerebellar ataxias comprise a genetically and mechanistically heterogeneous group of neurodegenerative disorders unified by the pathological expansion of short tandem repeats (STRs) beyond a disease-causing threshold.
Silvia Tortoriello +4 more
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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 +7 more
wiley +1 more source
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 +4 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 +2 more
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Molecular Nutrition &Food Research, Volume 70, Issue 16, 27 August 2026.Oral E171 exposure (2 mg/kg body weight/day) in a randomized cross‐over study of 31 healthy adults increased fecal titanium and blood superoxide while altering the colon transcriptome and enriching 73 pathways linked to oxidative stress, metabolism, and colorectal cancer.
Nicolaj S. Bischoff +14 more
wiley +1 more source
Roots of Progress: Uncovering Cerebellar Ataxias Using iPSC Models
BiomedicinesThe inaccessibility of human cerebellar tissue and the complexity of its development have historically hindered the study of cerebellar ataxias, a genetically diverse group of neurodegenerative disorders.
Michela Giacich +3 more
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Spinocerebellar ataxia-21 in a Turkish child
Annals of Indian Academy of Neurology, 2018 Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral ...
Faruk Incecik +3 more
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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 +8 more
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