A5078303617- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Neurological disorders and treatments
- ATP Synthase and ATPases Research
- Genetic Neurodegenerative Diseases
- Voice and Speech Disorders
- Parkinson's Disease Mechanisms and Treatments
- Dysphagia Assessment and Management
- Acute Ischemic Stroke Management
- Glycogen Storage Diseases and Myoclonus
- Botulinum Toxin and Related Neurological Disorders
- Head and Neck Cancer Studies
- Transcranial Magnetic Stimulation Studies
- RNA and protein synthesis mechanisms
- Neurological Disease Mechanisms and Treatments
- RNA modifications and cancer
- Neurological diseases and metabolism
- Visual perception and processing mechanisms
- Phonetics and Phonology Research
- Ocular Diseases and Behçet’s Syndrome
- Speech Recognition and Synthesis
- Neurogenetic and Muscular Disorders Research
- Ion channel regulation and function
- Advanced Neuroimaging Techniques and Applications
- Vascular Malformations and Hemangiomas
Monash University
2014-2025
The Alfred Hospital
1992-2025
Monash Health
2012-2024
Alfred Health
2018-2024
Monash Alfred Psychiatry Research centre
2021
Monash Medical Centre
2012-2019
Epworth Hospital
2019
Monash Institute of Medical Research
2014
Flinders Medical Centre
2002-2012
Flinders University
2004-2011
Disorders of motivation, such as apathy, are common in Parkinson's disease, and a key feature disorders is greater aversion to effort. In humans, the experience cognitive effort ubiquitous, apathy has traditionally been considered distinct separable from other subtypes. Surprisingly, however, neurobiology motivation poorly understood. particular, although dopamine well-characterized role incentivizing physically effortful behaviour, critical, unresolved issue whether its facilitatory...
The objective of this study was to determine whether a mitochondrial DNA mutation and defective oxidative phosphorylation are present in pedigree with maternally inherited sensorineural deafness, levodopa-responsive parkinsonism, neuropathy. We sequenced the mitochondrial-encoded ribosomal RNA, cytochrome c oxidase, transfer RNA genes by cycle sequencing. A polymerase chain reaction–based restriction enzyme assay mismatched primers employed show heteroplasmy novel 12SrRNA proband screen...
Abstract Respiratory chain complex I deficiency is a common cause of Leigh's disease (LD) and can be caused by mutations in genes encoded either nuclear or mitochondrial DNA (mtDNA). Most pathogenic mtDNA act recessively only when present at high mutant loads (typically >90%) tissues such as muscle brain. Two subunit genes, G14459A ND6 , T12706C ND5 have been associated with LD. We report another mutation, G13513A, three unrelated patients The G13513A mutation was approximately 50% less...
We retrospectively reviewed the clinical records of all patients with cancer and brachial plexopathy who had an MRI plexus between 1984 1993 (71 patients). The MRIs were reevaluated in a blinded fashion. presence mass adjacent to on was highly predictive tumor infiltration as determined by clinicopathologic criteria most useful feature distinguishing radiation from infiltration. Increased T2 signal or near commonly seen both groups not this distinction. very sensitive for abnormalities...
Rapid-onset dystonia-parkinsonism (RDP), first described in a large Midwestern family, is now reported second, apparently unrelated, family which four individuals have this same syndrome. All developed sudden onset of dysarthria, dysphagia, severe dystonic spasms, bradykinesia, and postural instability over less than 1 hour to few days. Three the had stable limb dystonia for several years preceding combined dystonia-parkinsonism. Treatment with levodopa/carbidopa provided little benefit. We...
Deep brain stimulation (DBS) for Parkinson’s disease successfully alleviates motor symptoms, but unanticipated changes in personality, self, and relationships can occur. Little is known about how these nonmotor outcomes affect patients families. We prospectively examined the experience meaning of DBS-related personality self caregivers. In-depth, semi-structured interviews were conducted with 22 participants (11 patient–caregiver dyads) before 9 months after DBS analyzed using thematic...
Inheritance of animal mtDNA is almost exclusively maternal, most likely because sperm-derived mitochondria are actively eliminated from the ovum, either at or soon after fertilization. How such elimination occurs currently unknown. We asked whether similar behavior could be detected in somatic cells, by following fate and mtDNAs entry human sperm into transformed cells containing but lacking endogenous (rho0 cells). found that a high proportion (10%-20%) contained functioning entry. However,...
Abstract Background and Objective Abnormal vocal cord movement may coexist with asthma cause additional upper/middle airway obstruction. The condition be a form of muscular dystonia that could contribute to resistant optimised treatments. Botulinum toxin causes temporary paralysis muscle an effective local treatment improves control. Methods In observational study, we evaluated the benefits unilateral injection botulinum in 11 patients (total 24 injections). Subjects had abnormal movement....
Abstract We report on a pedigree of dominantly‐inherited, adult‐onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. This highlights importance genetic analysis GFAP in leukodystrophy with palatal tremor. © 2004 Movement Disorder Society
Optokinetic nystagmus (OKN), the reflexive eye movements evoked by a moving field, has recently gained interest among researchers as useful tool to assess conscious perception. When perception and stimulus are dissociated, such in binocular rivalry-when dissimilar images simultaneously presented each alternates between two over time-OKN correlates with rather than physical direction of field. While this relationship is well established healthy subjects, it yet unclear whether also...
This document provides consensus-based recommendations for general physicians and primary care who diagnose manage patients with mitochondrial diseases (MD). It builds on previous international guidelines, particular emphasis clinical management in the Australian setting. statement was prepared by a working group of medical practitioners, nurses allied health professionals expertise experience managing MD. As new treatments plans emerge, these will continue to evolve, but current standards...
<h3>AIMS</h3> To determine long term neurodevelopmental outcome following the spectrum of meningococcal infection. <h3>METHODS</h3> Between 1988 and 1990, 152 cases disease were recruited; 139 survived. 1998 1999, 115 survivors (83%) evaluated, together with sex age matched controls. Standard measures neurological function, coordination, cognition, behaviour, hearing used to assess status. <h3>RESULTS</h3> One case has spastic quadriplegia. Gross examination was normal in all other Five no...
The patient initially presented with bilateral optic neuritis and periventricular cranial MRI abnormalities in the context of syphilis. Blood was positive but cerebrospinal fluid testing negative for specific syphilis markers he oligoclonal (CSF) band negative. He responded well to penicillin corticosteriod treatment, went on develop clinical syndrome neuromyelitis optica (NMO). Testing presence serum autoantibody aquaporin-4 This appears represent another case post-infectious NMO. Possible...