Evolution of the vestibular function during head impulses in spinocerebellar ataxia type 6

This study aimed to determine temporal evolution in the findings of head impulse tests (HITs) in SCA type 6 (SCA6). We serially evaluated HITs in 12 patients with SCA6 using video-oculography for 3  months to 5 years [median = 12 months, interquartile range (IQR) = 9–50] at two university hospitals in South Korea. Patients (8/12, 67%) usually showed abnormal responses at least for one semicircular canal during video-HITs. The gains of the vestibulo-ocular reflex (VOR) for the ante rior canals (ACs) were larger than those for the posterior canals (PCs,p = 0.005) at initial presentation. During the follow-up, the VOR gains decreased for the horizontal canals (HCs,p = 0.008) and ACs (p = 0.021), but those for the PCs remained unchanged (p = 0.212). Perverted HITs were observed in seven patients (7/12, 58%). The differences in the head impulse VOR gains were larger between the ACs and PCs (ΔACs − PCs) in those with perverted HITs than in those without (p = 0.003). The gains for each semicircular canal showed a negative correlation with the Scale for the Assessment and Rating of Ataxia (HCs, Spearman’s coefficient = − 0.675,p = 0.003; ACs, − 0.637,p = 0.006; PCs, − 0.605,p = 0.010). The head impulse gain of the VOR may serve a marker for clinical decline in SCA6. The dissoc...
Source: Journal of Neurology - Category: Neurology Source Type: research

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We describe the case of a 7-year-old boy who presented with diplopia, speech difficulty, dysphagia, gait disturbance, and difficulty in eyeball movements since 5 days. On examination, the child was having ataxia, areflexia, ophthalmoplegia, drooling of saliva, dysphonia, and absent gag reflex. MFS and brain stem encephalitis were kept as the differential diagnoses. The patient improved gradually over 3 weeks, following a treatment with intravenous immunoglobulin.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research
ConclusionThe clinical presentation and genetic studies confirmed a diagnosis of Cockayne syndrome in both sisters caused by compound heterozygous mutations in theERCC8 gene on chromosome 10. Multimodal ocular imaging and systemic findings revealed wide phenotypic variability between the affected siblings.
Source: Documenta Ophthalmologica - Category: Opthalmology Source Type: research
This study investigated whether 37 days oral feeding of 0.2% CPZ to young adult mice evoked sensorimotor behavioural changes. Behavioural tests included measurements of nociceptive withdrawal reflex responses and locomotor tests. Additionally, these were compared to histological analysis of the relevant CNS regions by analysis of neuronal and glial cell components. CPZ-fed mice exhibited more foot slips in walking ladder and beam tests compared to controls. In contrast, no changes in nociceptive thresholds to thermal or mechanical stimuli occurred between groups. Histological analysis showed demyelination throughout the CN...
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
This study investigated whether 37 days oral feeding of 0.2% CPZ to young adult mice evoked sensorimotor behavioural changes. Behavioural tests included measurements of nociceptive withdrawal reflex responses and locomotor tests. Additionally, these were compared to histological analysis of the relevant CNS regions by analysis of neuronal and glial cell components. CPZ-fed mice exhibited more foot slips in walking ladder and beam tests compared to controls. In contrast, no changes in nociceptive thresholds to thermal or mechanical stimuli occurred between groups. Histological analysis showed demyelination throughout the CN...
Source: Brain, Behavior, and Immunity - Category: Neurology Authors: Tags: Brain Behav Immun Source Type: research
arrie J Finno Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder of unknown etiology. Clinical signs of neurological deficits develop within the first year of life in vitamin E (vitE) deficient horses. A genome-wide association study (GWAS) was carried out using 670,000 SNP markers in 27 case and 42 control Quarter Horses. Two markers, encompassing a 2.5 Mb region on ECA7, were associated with the phenotype (p = 2.05 × 10-7 and 4.72 × 10-6). Within this region, caytaxin (ATCAY) was identified as a candidate gene due to its known...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Semin Neurol DOI: 10.1055/s-0039-3400315Cerebellar dizziness and vertigo account for approximately 10% of diagnoses in a tertiary dizziness center. This term summarizes a large group of disorders with chronic (degenerative, hereditary, acquired cerebellar ataxias), recurrent (episodic ataxias), or acute (stroke, inflammation) presentations. Key to the diagnosis is a comprehensive examination of central ocular motor and vestibular function. Patients with cerebellar dizziness and vertigo usually show a pattern of deficits in smooth pursuit, gaze-holding, saccade accuracy, or fixation-suppression of the vestibulo-ocular refle...
Source: Seminars in Neurology - Category: Neurology Authors: Tags: Review Article Source Type: research
ConclusionIn the present study, we found four patients in three Japanese families with novelVPS13D mutations, which may broaden the clinical and genetic findings forVPS13D‐related disorders.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
In this study, we examined relationships between the clinical phenotypes of SCAR16 patients and the changes in biophysical, biochemical, and functional properties of the corresponding mutated protein. We found that the severity of ataxia did not correlate with age of onset; however, cognitive dysfunction, increased tendon reflex, and ancestry were able to predict 54% of the variation in ataxia severity. We further identified domain-specific relationships between biochemical changes in CHIP and clinical phenotypes and specific biochemical activities that associate selectively with either increased tendon reflex or cognitive...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Molecular Bases of Disease Source Type: research
We cover a lot of news and announcements about digital health technologies to provide context for you. Even within The Medical Futurist team, there are favorite technologies and trends. And we thought it would be time to share the technologies we’re excited about! With advancements in exoskeleton technology, A.I.’s ever-increasing importance in healthcare and technologies like 5G and quantum computing soon going mainstream, there’s much to be excited about! Without further ado, let’s jump in! 1. Quantum Computing: faster, cheaper and safer Late last month, Google claimed “quantum suprema...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Future of Medicine digital health Healthcare technology digital technology Source Type: blogs
Conclusion The most evident alterations in the audiological evaluation were the prevalence of the descending audiometric configuration between the frequencies of 2 and 4 kHz and the absence of the acoustic reflex between the frequencies of 3 and 4 kHz bilaterally. In the electrophysiological evaluation, the patients presented changes with a prevalence of increased I, III and V wave latencies and the interval in the interpeak I-III, I-V and III-V. In the present study, it was observed that auditory complaints did not have a significant prevalence in this type of ataxia, which does not occur in some types ...
Source: International Archives of Otorhinolaryngology - Category: ENT & OMF Authors: Tags: Original Research Source Type: research
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