Richard Roxburgh
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View article: Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study
Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study Open
Background Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited multi-system disorder that affects skeletal muscles but also many other organ systems. Molecular targets have been identified and targeted therapies are being de…
View article: Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1): protocol of an international natural history study
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1): protocol of an international natural history study Open
Background Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited multi-system disorder that affects skeletal muscles but also many other organ systems. Molecular targets have been identified and targeted therapies are being de…
View article: Epidemiology of spinal muscular atrophy in Aotearoa-New Zealand
Epidemiology of spinal muscular atrophy in Aotearoa-New Zealand Open
Background: The advent of three effective disease modifying therapies for SMA has highlighted the need to understand the epidemiology of spinal muscular atrophy (SMA) and its disability impact. Objective: We aimed to establish the nationwi…
View article: The genetics of motor neuron disease in New Zealand
The genetics of motor neuron disease in New Zealand Open
Motor neuron disease (MND) is a group of adult-onset neurodegenerative diseases characterised by progressive motor neuron degeneration, of which amyotrophic lateral sclerosis (ALS) is the most common. MND is clinically heterogeneous with c…
View article: Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with <i>RFC1</i> expansions
Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with <i>RFC1</i> expansions Open
The finding of biallelic pathogenic pentanucleotide RFC1 expansions has extended the spectrum of disease in cerebellar ataxia, neuropathy and vestibular areflexia syndrome. It is clear that for many, a sensory neuropathy is an early featur…
View article: Disrupted Time Perception Underlies Motivational Disturbances in Huntington’s Disease
Disrupted Time Perception Underlies Motivational Disturbances in Huntington’s Disease Open
Our sense of time is fundamental to interacting with the world in a goal-directed manner, with decisions underpinning goal pursuit utilising timing circuits in the seconds-to-minutes range. A reduction in goal-directed behaviour — apathy —…
View article: International collaboration to improve knowledge on myotonic dystrophy type 2
International collaboration to improve knowledge on myotonic dystrophy type 2 Open
Background: The TREAT-NMD Global Registry Network is a global collaboration of neuromuscular disease registries, including myotonic dystrophy type 2 (DM2), which aims to facilitate collaborative research and clinical trials. Objectives: Th…
View article: Apathy and Impulsivity Co‐Occur in Huntington's Disease
Apathy and Impulsivity Co‐Occur in Huntington's Disease Open
Background Apathy is a debilitating behavioral change in Huntington's disease (HD), but impulsivity in HD has not been well documented, and the co‐occurrence of these behaviors in HD has not been investigated. Objective Our objective was t…
View article: Genetics of Motor Neuron Disease in New Zealand
Genetics of Motor Neuron Disease in New Zealand Open
Motor neuron disease (MND) is a group of neurodegenerative diseases characterised by adult-onset progressive degeneration of motor neurons, of which amyotrophic lateral sclerosis (ALS) is the most common. MND is clinically heterogenous wit…
View article: Decision cost hypersensitivity underlies Huntington’s disease apathy
Decision cost hypersensitivity underlies Huntington’s disease apathy Open
The neuropsychiatric syndrome of apathy is now recognized to be a common and disabling condition in Huntington’s disease. However, the mechanisms underlying it are poorly understood. One way to investigate apathy is to use a theoretical fr…
View article: The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort
The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort Open
Our findings have significant clinical implications for participants with the CAG-CCG LOI variant who receive inaccurate diagnoses near diagnostic cutoff ranges. Improved diagnostic testing approaches and clinical management are needed for…
View article: Nitrous oxide myelopathy: a case series
Nitrous oxide myelopathy: a case series Open
aims: To describe the clinical features and outcomes of patients with myelopathy and neuropathy due to recreationally inhaled nitrous oxide. methods: We identified patients presenting with nitrous oxide-associated myelopathy from an electr…
View article: Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
Genome and <span>RNA</span> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone Open
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 t…
View article: Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Open
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 dise…
View article: Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Open
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 dis…
View article: Mitochondrial disease in New Zealand: a nationwide prevalence study
Mitochondrial disease in New Zealand: a nationwide prevalence study Open
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 limi…
View article: <i>RFC1</i> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics
<i>RFC1</i> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics Open
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome is a progressive, generally late-onset, neurological disorder associated with biallelic pentanucleotide expansions in Intron 2 of the RFC1 gene. The locus exhibits substantial…
View article: Natural History of Friedreich Ataxia
Natural History of Friedreich Ataxia Open
The understanding of the diversity within FRDA populations and their patterns of functional decline provides an essential foundation for future clinical trial design including patient selection and facilitates the interpretation of the cli…
View article: Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome
Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome Open
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 patient…
View article: STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci Open
Expansions of short tandem repeats (STRs) cause dozens of rare Mendelian diseases. However, STR expansions, especially those arising from repeats not present in the reference genome, are challenging to detect from short-read sequencing dat…
View article: The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias Open
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 thera…
View article: Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort Open
Objective The objective of this study was to characterize the incidence and progression of scoliosis in the natural history of Friedreich’s ataxia (FRDA) and document the factors leading to the requirement for corrective surgery. Methods D…