Search

OBJECTIVE: To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A-ataxia in a large worldwide cohort, and provide first progression data, including...

Adolescent Adult Aged Cerebellar Ataxia Child Child Preschool Cohort Studies Cross-Sectional Studies Female genetic variation Humans Magnetic Resonance Imaging Male Middle Aged Mutation Protein Structure Secondary Ubiquinone Young Adult

Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause...

Rfc1 Cerebellar Ataxia neuropathy Vestibular Areflexia Syndrome (Canvas) Chronic Cough Repeat Expansion Sensory Neuropathy Aged Aged 80 and over ataxia Cerebellar Ataxia cerebellum Female Humans Male Middle Aged Neurologic Examination Peripheral Nervous System Diseases Reflex abnormal Sensation Disorders Syndrome Vestibular Neuronitis

BACKGROUND: Visual exploration in autism spectrum disorder (ASD) is characterized by attenuated social attention. The underlying oculomotor function during visual exploration is understudied, whereas oculomotor function during...

eye tracking biomarker Brainstem cerebellum Locus Coeruleus pupillometry visual attention Attention Autism spectrum disorder Cerebellar Ataxia Eye Movements Female Humans Infant Newborn Male Saccades

Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause...

Chronic Cough Sensory Neuropathy Rfc1 Repeat Expansion Cerebellar Ataxia neuropathy Vestibular Areflexia Syndrome (Canvas)

A form of hereditary cerebellar ataxia has recently been described in the Norwegian Buhund dog breed. This study aimed to identify the genetic cause of the disease. Whole-genome sequencing of two Norwegian Buhund siblings...

Animals Cerebellar Ataxia cerebellum Dog Diseases Dogs Kv Channel-Interacting Proteins Mutation Polymorphism Single Nucleotide whole genome sequencing

INTRODUCTION: The cerebellum has strong cortical and subcortical connectivity, but is rarely taken into account for clinical diagnosis in many neurodegenerative conditions, particularly in the absence of clinical ataxia. The...

Dementia Meta-Analysis MRI Atrophy Cerebellar Ataxia cerebellum Gray Matter Humans Neurodegenerative Diseases