E Storey

Summary

Affiliation: Monash University
Country: Australia

Publications

  1. ncbi request reprint Inter-rater reliability of the International Cooperative Ataxia Rating Scale (ICARS)
    Elsdon Storey
    Department of Medicine Neuroscience, Monash University, Melbourne, Australia
    Mov Disord 19:190-2. 2004
  2. ncbi request reprint Increased T2 signal in the middle cerebellar peduncles on MRI is not specific for fragile X premutation syndrome
    Elsdon Storey
    Department of Medicine Neuroscience, Monash University Alfred Hospital Campus, Melbourne, Vic, Australia
    J Clin Neurosci 12:42-3. 2005
  3. ncbi request reprint Spinocerebellar ataxia type 20
    Elsdon Storey
    Department of Medicine Neurosciences, Alfred Hospital Campus of Monash University, Melbourne, Australia
    Cerebellum 4:55-7. 2005
  4. doi request reprint A new dominantly inherited pure cerebellar ataxia, SCA 30
    E Storey
    Department of Neuroscience, Monash University, Alfred Hospital, Melbourne, Vic, Australia
    J Neurol Neurosurg Psychiatry 80:408-11. 2009
  5. ncbi request reprint Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia
    E Storey
    Van Cleef Roet Centre for Nervous Diseases, Alfred Hospital Monash University, Prahran, Victoria, Australia
    Am J Med Genet 95:351-7. 2000
  6. doi request reprint Spinocerebellar ataxia type 15
    Elsdon Storey
    Department of Medicine Neuroscience, Monash University Alfred Hospital Campus, Melbourne, Australia
    Handb Clin Neurol 103:561-5. 2012
  7. ncbi request reprint Amyloid precursor protein of Alzheimer's disease: evidence for a stable, full-length, trans-membrane pool in primary neuronal cultures
    E Storey
    Van Cleet Roet Centre for Nervous Diseases and Department of Neuroscience, Monash University Alfred Hospital, Prahran, Australia
    Eur J Neurosci 11:1779-88. 1999
  8. doi request reprint Spinocerebellar ataxia type 20
    Elsdon Storey
    Department of Medicine Neuroscience, Monash University Alfred Hospital Campus, Melbourne, Australia
    Handb Clin Neurol 103:567-73. 2012
  9. ncbi request reprint Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction
    E Storey
    Department of Neuroscience, Monash University, Prahran, Australia
    Arch Neurol 56:43-50. 1999
  10. ncbi request reprint A new autosomal dominant pure cerebellar ataxia
    E Storey
    Genetic Health Services Victoria at the Alfred Hospital, Monash University, Alfred Hospital, Parkville, Melbourne, Australia
    Neurology 57:1913-5. 2001

Collaborators

Detail Information

Publications37

  1. ncbi request reprint Inter-rater reliability of the International Cooperative Ataxia Rating Scale (ICARS)
    Elsdon Storey
    Department of Medicine Neuroscience, Monash University, Melbourne, Australia
    Mov Disord 19:190-2. 2004
    ..All correlations were significant at P < 0.00001. The ICARS exhibits very high inter-rater reliability even without prior observer standardisation and is sensitive to a range of ataxia severities from very mild to severe...
  2. ncbi request reprint Increased T2 signal in the middle cerebellar peduncles on MRI is not specific for fragile X premutation syndrome
    Elsdon Storey
    Department of Medicine Neuroscience, Monash University Alfred Hospital Campus, Melbourne, Vic, Australia
    J Clin Neurosci 12:42-3. 2005
    ..The phenotypic overlap with multiple system atrophy of cerebellar type (MSA-C) and the importance of genetic confirmation are emphasised...
  3. ncbi request reprint Spinocerebellar ataxia type 20
    Elsdon Storey
    Department of Medicine Neurosciences, Alfred Hospital Campus of Monash University, Melbourne, Australia
    Cerebellum 4:55-7. 2005
    ..It seems probable that these two SCAs may be separate genetic entities, on the basis of their divergent clinical features, but formal proof awaits discovery of one or both responsible genes...
  4. doi request reprint A new dominantly inherited pure cerebellar ataxia, SCA 30
    E Storey
    Department of Neuroscience, Monash University, Alfred Hospital, Melbourne, Vic, Australia
    J Neurol Neurosurg Psychiatry 80:408-11. 2009
    ..Currently, 27 forms are known, with the causative gene identified in 16. Although the majority of dominant pedigrees worldwide have SCAs 1, 2, 3, 6 or 8, new SCAs continue to be delineated. We describe a new disorder: SCA 30...
  5. ncbi request reprint Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia
    E Storey
    Van Cleef Roet Centre for Nervous Diseases, Alfred Hospital Monash University, Prahran, Victoria, Australia
    Am J Med Genet 95:351-7. 2000
    ..The frequency of large-normal alleles for SCA1 and SCA3 in the population reflects the prevalence of these two diseases, supporting the hypothesis that disease alleles arise by expansion of large-normal alleles...
  6. doi request reprint Spinocerebellar ataxia type 15
    Elsdon Storey
    Department of Medicine Neuroscience, Monash University Alfred Hospital Campus, Melbourne, Australia
    Handb Clin Neurol 103:561-5. 2012
    ..The potential of point mutations in ITPR1 to cause SCA15 is not yet confirmed. "SCA16" has now been shown to be due to an ITPR1 mutation, and has now been subsumed into SCA15...
  7. ncbi request reprint Amyloid precursor protein of Alzheimer's disease: evidence for a stable, full-length, trans-membrane pool in primary neuronal cultures
    E Storey
    Van Cleet Roet Centre for Nervous Diseases and Department of Neuroscience, Monash University Alfred Hospital, Prahran, Australia
    Eur J Neurosci 11:1779-88. 1999
    ..This information is consistent with a role for APP in stable cell-matrix or cell-cell interactions...
  8. doi request reprint Spinocerebellar ataxia type 20
    Elsdon Storey
    Department of Medicine Neuroscience, Monash University Alfred Hospital Campus, Melbourne, Australia
    Handb Clin Neurol 103:567-73. 2012
    ..The responsible genetic abnormality has been tentatively identified as a 260-kb duplication in the pericentric region of chromosome 11, but confirmation will necessarily await description of further families...
  9. ncbi request reprint Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction
    E Storey
    Department of Neuroscience, Monash University, Prahran, Australia
    Arch Neurol 56:43-50. 1999
    ..The basic clinical neurologic features of SCA2 have been described in the literature, but neuropsychological features have not, despite statements that some patients became demented...
  10. ncbi request reprint A new autosomal dominant pure cerebellar ataxia
    E Storey
    Genetic Health Services Victoria at the Alfred Hospital, Monash University, Alfred Hospital, Parkville, Melbourne, Australia
    Neurology 57:1913-5. 2001
    ..Pending an actual chromosomal locus discovery, the name spinocerebellar ataxia (SCA)15 is expectantly applied...
  11. doi request reprint Decreased functional brain activation in Friedreich ataxia using the Simon effect task
    N Georgiou-Karistianis
    Experimental Neuropsychology Research Unit, School of Psychology and Psychiatry, Monash University, Clayton 3800, Victoria, Australia
    Brain Cogn 79:200-8. 2012
    ....
  12. ncbi request reprint Clinical and genetic study of Friedreich ataxia in an Australian population
    M B Delatycki
    The Murdoch Institute, Royal Children s Hospital, Victoria, Australia
    Am J Med Genet 87:168-74. 1999
    ..The duration of disease is correlated with wheelchair use and the presence of diabetes, scoliosis, bladder symptoms and impaired proprioception, and vibration sense but no other complications studied...
  13. pmc Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene
    M C Fahey
    Department of Neuroscience, Monash University Alfred Hospital Campus, Commercial Road, Melbourne, Victoria 3004, Australia
    J Neurol Neurosurg Psychiatry 76:1720-2. 2005
    ..We describe a novel mutation in exon 5 of the PRKCG gene, altering a highly conserved cysteine to a phenylalanine at codon 150, and record the detailed clinical observations in six affected family members...
  14. doi request reprint Impaired inhibition of prepotent motor tendencies in Friedreich ataxia demonstrated by the Simon interference task
    L A Corben
    Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    Brain Cogn 76:140-5. 2011
    ....
  15. ncbi request reprint Alzheimer's disease amyloid precursor protein on the surface of cortical neurons in primary culture co-localizes with adhesion patch components
    E Storey
    Department of Pathology, University of Melbourne, Parkville, Victoria, Australia
    Brain Res 735:217-31. 1996
    ..It is conjectured that APP may have a role in cell-substratum interactions in the medium term, during such events as synaptic plasticity and neurite stability during extension...
  16. ncbi request reprint New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness
    D J Amor
    Victorian Clinical Genetics Service, Royal Children s Hospital, Flemington Road, Parkville 3052, Victoria, Australia
    Am J Med Genet 99:29-33. 2001
    ....
  17. ncbi request reprint Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene
    M J Smith
    Department of Pathology, The University of Melbourne, Parkville, Vic, Australia
    Neuroreport 10:503-7. 1999
    ..Sequencing confirmed a T to C transition altering a leucine to proline at codon 219 of the PS1 gene. This is a novel mutation in exon 7 of the PS1 gene occurring outside the transmembrane regions of IV and V...
  18. ncbi request reprint Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem
    M A Knight
    Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville, Victoria, Australia
    Hum Mutat 16:374. 2000
  19. doi request reprint Early intervention for mild cognitive impairment: a randomised controlled trial
    G J Kinsella
    Psychological Science, La Trobe University, Melbourne, Victoria 3086, Australia
    J Neurol Neurosurg Psychiatry 80:730-6. 2009
    ..Positive effects are reported for memory training for healthy older adults, and yet there is limited information about the benefit of cognitive intervention for older adults with increasing memory difficulties-mild cognitive impairment...
  20. ncbi request reprint Near-total absence of the cerebellum
    R J Gardner
    Victorian Clinical Genetics Services, Royal Children s Hospital, Melbourne, Australia
    Neuropediatrics 32:62-8. 2001
    ..Quite different clinical pictures, of considerably greater severity, are demonstrated in the remaining two cases. One had pontocerebellar hypoplasia type 2, while the other had a complex cerebellar and cerebral malformation...
  21. ncbi request reprint Rationale for a trial of low-dose aspirin for the primary prevention of major adverse cardiovascular events and vascular dementia in the elderly: Aspirin in Reducing Events in the Elderly (ASPREE)
    Mark Nelson
    Department of Epidemiology and Preventive Medicine, Monash University, Alfred Hospital, Prahan, Victoria, Australia
    Drugs Aging 20:897-903. 2003
    ..This sample size has a power of 87% to detect a 15% reduction in primary events in the aspirin group, with an anticipated combined primary event rate of 20 per 1000 patient years...
  22. pmc Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome
    D J Szmulewicz
    Department of Neuroscience, Alfred Hospital, Melbourne, Victoria, Australia
    Neurology 76:1903-10. 2011
    ..Sensory neuropathy was mentioned in 3 of the 4 patients described. We aimed to characterize and estimate the frequency of neuropathy in this condition, and determine its typical MRI features...
  23. ncbi request reprint The roles of proteolysis and nuclear localisation in the toxicity of the polyglutamine diseases. A review
    R Walsh
    Department of Medicine Neuroscience, Monash University Alfred Hospital Campus, Commercial Road, Melbourne, Victoria 3004, Australia
    Neurotox Res 7:43-57. 2005
    ....
  24. ncbi request reprint Role of proteolysis in polyglutamine disorders
    V Tarlac
    Department of Medicine Neuroscience, Monash University, Alfred Hospital Campus, Melbourne, Australia
    J Neurosci Res 74:406-16. 2003
    ..Inhibition of specific proteases constitutes a potential therapeutic approach in these diseases...
  25. ncbi request reprint Elaborated spaced-retrieval and prospective memory in mild Alzheimer's disease
    G J Kinsella
    School of Psychological Science, La Trobe University, Victoria, Australia
    Neuropsychol Rehabil 17:688-706. 2007
    ....
  26. ncbi request reprint Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20
    Melanie A Knight
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    Brain 127:1172-81. 2004
    ..The International Nomenclature Committee has made a provisional assignment of 'SCA20', although firm designation will have to await a definite molecular distinction from SCA5...
  27. ncbi request reprint Spinocerebellar ataxia type 15
    R J McKinlay Gardner
    Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Melbourne, Australia
    Cerebellum 4:47-50. 2005
    ..These two families might plausibly reflect a locus homogeneity, but for the present this remains an open question...
  28. ncbi request reprint MRI evidence of cerebellar and hippocampal involvement in Creutzfeldt-Jakob disease
    M A Poon
    Department of Neurology, Prahran, Victoria, Australia
    Neuroradiology 43:746-9. 2001
    ..She had the typical findings of bilateral basal ganglion changes on MRI, as well as changes in the cerebellum and hippocampus. This case adds further information to the known imaging characteristics of CJD...
  29. doi request reprint Performance of everyday actions in mild Alzheimer's disease
    Clare M Ramsden
    Psychological Science, La Trobe University, Melbourne, Australia
    Neuropsychology 22:17-26. 2008
    ..Results are discussed in relation to the role of components of working memory in performance of everyday actions in mild AD...
  30. ncbi request reprint Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant
    Melanie A Knight
    Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Melbourne, Australia
    Neurobiol Dis 13:147-57. 2003
    ..Thus, the itpr1-/- and opt ITPR1 mouse mutants, which each result in ataxia, are not allelic to the human SCA15 locus...
  31. doi request reprint Skeletonized internal thoracic artery harvesting reduces chest wall dysesthesia after coronary bypass surgery
    Phuong L Markman
    Cardiac Surgical Research Unit, CJ Officer Brown Cardiothoracic Unit, Alfred Hospital, Australia
    J Thorac Cardiovasc Surg 139:674-9. 2010
    ..We hypothesized that its incidence and severity might be reduced by using skeletonized internal thoracic artery harvesting rather than pedicled harvesting...
  32. ncbi request reprint Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15
    Devika Ganesamoorthy
    Victorian Clinical Genetic Services and Murdoch Children s Research Institute, University of Melbourne, Department of Paediatrics, Royal Children s Hospital, Parkville, Victoria, Australia
    Clin Chem 55:1415-8. 2009
    ..To date, 5 different SCA15 families have been identified with ITPR1 gene deletion...
  33. ncbi request reprint A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis
    Hatice Aksoy
    Department of Neurology, Burhan Nalbantoglu Hospital, Lefkosa Nicosia, Cyprus, UK
    Neuroepidemiology 22:235-8. 2003
    ..The A4T mutation, with one exception, was of similar severity to the A4V mutation...
  34. ncbi request reprint Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent
    Anita Vinton
    Department of Neurology, The Royal Melbourne Hospital, The University of Melbourne, Australia
    Am J Med Genet A 136:201-4. 2005
    ....
  35. ncbi request reprint Feasibility of conducting a primary prevention trial of low-dose aspirin for major adverse cardiovascular events in older people in Australia: results from the ASPirin in Reducing Events in the Elderly (ASPREE) pilot study
    Mark R Nelson
    Menzies Research Institute, University of Tasmania, Hobart, TAS, Australia
    Med J Aust 189:105-9. 2008
    ..To determine the feasibility of performing a large clinical trial of the use of aspirin for the primary prevention of cardiovascular disease in older participants--the ASPirin in Reducing Events in the Elderly (ASPREE) trial...
  36. ncbi request reprint Towards an understanding of cognitive function in Friedreich ataxia
    Louise A Corben
    Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia
    Brain Res Bull 70:197-202. 2006
    ..We conclude with recommendations for future research including correlating cognitive function in individuals with FRDA with possible determinants of disease severity, such as age of onset and the causative genetic mutation...
  37. pmc Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
    Joyce van de Leemput
    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 3:e108. 2007
    ..We show here that heterozygous deletion of the 5' part of the ITPR1 gene, encompassing exons 1-10, 1-40, and 1-44 in three studied families, underlies SCA15 in humans...