Publications by authors named "Richard Roxburgh"

Article Synopsis
  • Apathy and impulsivity are common behavioral changes in Huntington's disease (HD), but their co-occurrence and effects on quality of life had not been thoroughly explored until this study.
  • The study involved 42 people with HD and 20 healthy controls who completed various assessments for apathy, impulsivity, and other factors, revealing a significant correlation between apathy and impulsivity in HD patients.
  • The findings indicate that both apathy and impulsivity negatively affect quality of life in individuals with HD, suggesting that these behaviors may be interconnected and warrant further investigation.
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Article Synopsis
  • The study analyzed lower limb nerve ultrasound measurements to differentiate between inherited neuronopathy, inherited axonopathy, and acquired axonopathy in patients.
  • Researchers compared nerve sizes in 34 healthy controls with three patient groups, finding significant size variations particularly in the tibial and sural nerves.
  • Results indicated that inherited conditions (CANVAS and CMT2) had smaller nerve sizes compared to the acquired condition, suggesting ultrasound can help in diagnosing these neurological diseases more effectively.
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  • Apathy is a common and disabling syndrome found in Huntington's disease (HD), but the underlying mechanisms are still not well understood.
  • Researchers used a framework of motivated behavior to investigate whether individuals with apathy in HD are more sensitive to the costs of actions (like physical effort and time) compared to their sensitivity to rewards.
  • Findings from tasks measuring decision-making indicated that people with HD exhibit a greater sensitivity to physical effort costs and delays, impacting their choices and reinforcing the idea that effort hypersensitivity contributes to apathy in this condition.*
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Purpose: To determine the frequency and clinical impact of loss-of-interruption (LOI) and duplication-of-interruption modifier variants of the HTT CAG and CCG repeat in a cohort of individuals with Huntington disease (HD).

Methods: We screened symptomatic HD participants from the UBC HD Biobank and 5 research sites for sequence variants. After variant identification, we examined the clinical impact and frequency in the reduced penetrance range.

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Article Synopsis
  • The study aimed to describe the clinical features and outcomes of patients with myelopathy and neuropathy linked to recreational nitrous oxide use from 2016 to 2023.
  • Twelve patients (6 women, average age 27.5) showed symptoms like numbness, weakness, and mental changes, with some using large amounts of nitrous oxide and vitamin B12 supplements.
  • At follow-up, 75% of patients managed to achieve functional independence, highlighting the significant health concerns related to nitrous oxide abuse. *
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Short-chain enoyl-coA hydratase (SCEH) deficiency due to biallelic pathogenic ECHS1 variants was first reported in 2014 in association with Leigh syndrome (LS) and increased S-(2-carboxypropyl)cysteine excretion. It is potentially treatable with a valine-restricted, high-energy diet and emergency regimen. Recently, Simon et al.

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Neuronal intranuclear inclusion disease, caused by a GGC repeat expansion in the 5'-untranslated region of NOTCH2NLC, is a rare neurodegenerative condition with highly variable clinical manifestations. In recent years, the number of reported cases have increased dramatically in East Asia. We report the first four genetically confirmed cases of neuronal intranuclear inclusion disease in New Zealand, all having Polynesian ancestry (three New Zealand Māori and one Cook Island Māori).

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Objective: Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence-based recommendations for their integration into practice.

Methods: In total, 247 families with suspected monogenic neuromuscular disorders who remained without a genetic diagnosis after standard diagnostic investigations underwent research-led massively parallel sequencing: neuromuscular disorder gene panel, exome, genome, and/or RNA sequencing to identify causal variants.

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RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat.

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Introduction/aims: Muscle ultrasound has been investigated in children with spinal muscular atrophy (SMA) and proposed as a potential biomarker of disease severity. We studied the ultrasound properties in adults with SMA to see whether they also have potential as markers of disease severity in older patients.

Methods: Thickness and quantitative echogenicity of muscle and subcutaneous tissue were compared between eight prospectively recruited adult patients with SMA and eight age, sex and body mass index-matched controls.

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Background: The complexities of mitochondrial disease make epidemiological studies challenging, yet this information is important in understanding the healthcare burden and addressing service and educational needs. Existing studies are limited to quaternary centres or focus on a single genotype or phenotype and estimate disease prevalence at 12.5 per 100 000.

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Article Synopsis
  • Cerebellar ataxia, neuropathy and vestibular areflexia syndrome is a progressive neurological disorder linked to genetic mutations in a specific gene, which has shown significant variability in its genetic makeup.
  • A study screened 242 Australasian patients with neurological diseases to find correlations between these genetic expansions and the disorder, discovering known pathogenic expansions in 15.3% of the cases.
  • Additionally, researchers identified previously unknown genetic repeat motifs and suggested the use of enhanced sequencing techniques to better understand the complex patterns of these genetic expansions.
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Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection is challenging with short-read DNA sequencing data since supporting reads are often mapped incorrectly. Detection is particularly difficult for "novel" STRs, which include new motifs at known loci or STRs absent from the reference genome.

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Introduction/Aims Recent studies have shown that ultrasound of peripheral nerves can distinguish inherited sensory neuronopathy from acquired axonopathy with a high degree of accuracy. In this study we aimed to determine whether ultrasound can also distinguish inherited sensory neuronopathy from inherited axonopathy. Methods We compared the ultrasound cross-sectional areas (CSAs) of the median, ulnar, sural, and tibial nerves of retrospectively recruited patients with cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS), in whom sensory neuronopathy is a cardinal feature, with Charcot-Marie-Tooth type 2 (CMT2) disease patients, who have an inherited axonopathy, using the Kruskal-Wallis test and receiver-operating characteristic curves.

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A 65-year-old man presented with an acute ischaemic stroke due to right posterior cerebral artery occlusion, complicated by episodes of sinus arrest in the absence of intrinsic cardiac disease. His neurological deficits and sinus node dysfunction resolved following mechanical thrombectomy. We believe this to be a novel case where thrombectomy resulted in successful treatment of cerebral ischaemia mediated cardiac autonomic dysfunction.

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Article Synopsis
  • The study aims to clarify patterns of neurologic deterioration in Friedreich ataxia (FRDA), focusing on genetic diversity and age stratification to enhance future research design.
  • It analyzed data from over 1,100 participants using various clinical outcome measures and sought to differentiate disease progression based on factors like age of onset and ambulation status.
  • Findings indicate that younger patients experience more pronounced declines in function, suggesting that future clinical studies should focus on specific age groups and functional status to minimize variability and improve treatment balance.
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Background And Purpose: Susac syndrome (SuS) is an inflammatory condition of the brain, eye and ear. Diagnosis can be challenging, and misdiagnosis is common.

Methods: This is a retrospective review of the medical records of 32 adult patients from an Australasian cohort of SuS patients.

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Introduction/aims: Sensory impairment secondary to dorsal root ganglion neuronopathy is common, although often subclinical, in X-linked spinal and bulbar muscular atrophy (SBMA). We investigated the hypothesis that nerves of SBMA patients show the same morphological changes on ultrasound as other inherited sensory neuronopathies and that these changes are distinct from those in axonal neuropathy.

Methods: We compared the ultrasound cross-sectional areas (CSAs) of median, ulnar, sural, and tibial nerves of prospectively recruited SBMA patients with those of patients with acquired axonal neuropathy and healthy controls.

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Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy).

Methods: A total of 74 families with diverse monogenic conditions (31% prenatal-congenital onset, 47% early childhood, and 22% teenage-adult onset) were triaged into PCR-based RNA testing, with comparative RNA sequencing for 19 cases.

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Objectives: To determine the impact of genetic muscle disorders and identify the sociodemographic, illness, and symptom factors influencing quality of life.

Methods: Adults (aged 16-90 years) with a confirmed clinical or molecular diagnosis of a genetic muscle disorder identified as part of a nationwide prevalence study were invited to complete an assessment of the impact of their condition. Quality of life was measured using the World Health Organization Quality of Life questionnaire.

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Autosomal recessive cerebellar ataxias (ARCAs) form an ultrarare yet expanding group of neurodegenerative multisystemic diseases affecting the cerebellum and other neurological or non-neurological systems. With the advent of targeted therapies for ARCAs, disease registries have become a precious source of real-world quantitative and qualitative data complementing knowledge from preclinical studies and clinical trials. Here, we review the , a global collaborative multicenter platform (>15 countries, >30 sites) with the overarching goal to advance trial readiness in ARCAs.

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