A5058072349- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- Botulinum Toxin and Related Neurological Disorders
- Adolescent and Pediatric Healthcare
- Cardiomyopathy and Myosin Studies
- Childhood Cancer Survivors' Quality of Life
- Genomics and Rare Diseases
- RNA modifications and cancer
- Neurological diseases and metabolism
- Congenital Anomalies and Fetal Surgery
- Neurological disorders and treatments
- RNA and protein synthesis mechanisms
- Delphi Technique in Research
- Genomics and Phylogenetic Studies
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Effects of Vibration on Health
- Vestibular and auditory disorders
- Biomedical and Engineering Education
- Human-Animal Interaction Studies
- Amyotrophic Lateral Sclerosis Research
- Peripheral Neuropathies and Disorders
University of Auckland
2017-2024
Auckland District Health Board
2016-2024
Brain Research New Zealand
2024
Auckland City Hospital
2013-2023
Universidade do Oeste Paulista
2018
Universidad Complutense de Madrid
1995
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset, neurological disease. Recently, pentanucleotide expansion in intron 2 of RFC1 was identified as the genetic cause CANVAS. We screened an Asian-Pacific cohort for CANVAS novel repeat motif, (ACAGG)exp, three affected individuals. This motif associated with additional clinical features including fasciculations elevated serum creatine kinase. These have not previously been described individuals...
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 particularly difficult for "novel" STRs, which include new motifs at known loci or STRs absent from the reference genome. We developed STRling to efficiently count k-mers recover informative and call expansions novel STR loci. sensitive disease loci, has a low false discovery rate, resolves...
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of dystrophin protein. Although many novel therapies are under development for DMD, there currently no cure and affected individuals often confined to a wheelchair their teens die in twenties/thirties. DMD rare disease (prevalence <5/10,000). Even largest countries do not have enough patients rigorously assess therapies, unravel complexities, determine patient outcomes. TREAT-NMD worldwide network...
Abstract Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative disease onset in mid- to late adulthood. The genetic basis for large proportion of Caucasian patients was shown be the biallelic expansion pentanucleotide (AAGGG)n repeat RFC1. Here, we describe first instance CANVAS testing New Zealand Māori Cook Island individuals. We show novel, possibly population-specific configuration (AAAGG)10-25(AAGGG)exp, which...
<b><i>Background:</i></b> Previous epidemiological studies of genetic muscle disorders have relied on medical records to identify cases and may be at risk selection biases or focused selective population groups. <b><i>Objectives:</i></b> This study aimed determine age-standardised prevalence through a nationwide, across the lifespan using capture-recapture method. <b><i>Methods:</i></b> Adults children with confirmed...
Objectives This population-based study aimed to determine age-standardised prevalence of Charcot-Marie-Tooth disease (CMT) across the lifespan using multiple case ascertainment sources. Design Point-prevalence epidemiological in Auckland Region New Zealand (NZ). Setting Multiple sources including primary care centres, hospital services, neuromuscular registry, community-based organisations and self-referral were used identify potentially eligible participants. Participants Adults (≥16 years,...
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 genetic variability, multiple pathogenic benign repeat alleles previously identified. To determine contribution to disease within an Australasian cohort further investigate heterogeneity exhibited at locus, combination flanking repeat-primed PCR was used...
Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It a multisystemic disorder multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance mission improving trial readiness for neuromuscular diseases) and Marigold Foundation held workshop key opinion leaders agree minimal dataset patient registries myotonic...
ABSTRACT Introduction Sensory impairment in Friedreich ataxia (FRDA) is generally accepted as being due to a ganglionopathy. The degree of contribution from axonal pathology remains matter debate. Nerve ultrasound may be able differentiate these processes. Methods cross‐sectional area median, ulnar, tibial, and sural nerves 8 patients with FRDA was compared age‐ gender‐matched healthy controls reference values our population. Results the were significantly larger than those at all upper limb...
ABSTRACT Introduction Use of peripheral nerve ultrasound alongside standard electrodiagnostic tests may help to gain insight into the pathophysiology involvement in type 2 spinocerebellar ataxia (SCA2). Methods Twenty‐seven patients with SCA2 underwent cross‐sectional area (CSA) measurement median, ulnar, sural and tibial nerves, motor (median, tibial) sensory radial, sural) conduction studies. Results Twenty had pathologically small‐nerve CSAs, suggestive neuronopathy. In these patients,...
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 same morphological changes on ultrasound as other inherited sensory neuronopathies these are distinct from those axonal neuropathy.We compared cross-sectional areas (CSAs) median, ulnar, sural, tibial prospectively recruited with acquired neuropathy healthy controls....
Abstract 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 properties adults SMA to see whether they also have markers severity older patients. Methods Thickness quantitative echogenicity muscle subcutaneous tissue were compared between eight prospectively recruited adult patients age, sex body mass index‐matched controls. Measurements made dominant deltoid,...
The New Zealand Neuromuscular Disease Patient Registry has been recruiting for five years. Its primary aim is to enable people with neuromuscular disease participate in research including clinical trials. It contributed data large anonymised cohort studies and many feasibility studies, provided practical information advice researchers wanting work conditions. 1019 have enrolled since the Registry's launch August 2011 over 70 different diagnoses. Of these; 8 patients involved trials, 134...
Genetic muscle disorders, including muscular dystrophies, congenital myopathies, and ion channel diseases can be associated with significant disability.This study aimed to explore child parent perspectives of the impact living a genetic disorder.Eighty-three children (<16 years) clinical or molecular diagnosis were identified as part national prevalence study. Parents' experiences needs assessed using study-specific questionnaire. Additional outcome measures included self-report versions...
Purpose To provide evidence-based guidance specific to allied health and nursing practice for the assessment management of individuals with Duchenne muscular dystrophy (DMD).Materials methods Thirteen key focus areas were identified in consultation professionals consumer advocacy groups. A series systematic literature reviews conducted identify strategies each area. consensus process using modified Delphi methodology, including an Australia-New Zealand expert meeting, was conducted....
Abstract Background The complexities of mitochondrial disease make epidemiological studies challenging, yet this information is important in understanding the healthcare burden and addressing service educational needs. Existing are limited to quaternary centres or focus on a single genotype phenotype estimate prevalence at 12.5 per 100 000. New Zealand's (NZ) size partially integrated national system it amenable nationwide study. Aim To molecularly confirmed suspected 31 December 2015 NZ....