Anthony H V Schapira

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi Mitochondrial disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, and Institute of Neurology, University College London, London NW3 2PF, UK
    Lancet 368:70-82. 2006
  2. ncbi Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agents
    Soo Lo
    Department of Oncology, Royal Free and University College Medical School, University College London, London W1P 8BT, UK
    Int J Oncol 27:337-44. 2005
  3. pmc Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease
    Laura D Osellame
    Department of Cell and Developmental Biology, University College London, London WC1E 6BT, UK
    Cell Metab 17:941-53. 2013
  4. ncbi PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis
    Matthew E Gegg
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Autophagy 7:243-5. 2011
  5. pmc G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization
    Tatiana D Papkovskaia
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London NW3 2PF, UK
    Hum Mol Genet 21:4201-13. 2012
  6. pmc Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy
    Matthew E Gegg
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Hum Mol Genet 19:4861-70. 2010
  7. pmc Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    Daniel G Healy
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:583-90. 2008
  8. doi Molecular and clinical pathways to neuroprotection of dopaminergic drugs in Parkinson disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Institute of Neurology, University College London, London, NW3 2PF, UK
    Neurology 72:S44-50. 2009
  9. ncbi Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up
    Paul E Hart
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, London, England
    Arch Neurol 62:621-6. 2005
  10. ncbi Clinical correlates of mitochondrial function in Huntington's disease muscle
    Christopher Turner
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London, United Kingdom
    Mov Disord 22:1715-21. 2007

Detail Information

Publications68

  1. ncbi Mitochondrial disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, and Institute of Neurology, University College London, London NW3 2PF, UK
    Lancet 368:70-82. 2006
    ..Improved understanding of mtDNA inheritance and mutation penetrance patterns, and novel techniques for mtDNA modification offer significant prospects for more accurate genetic counselling and effective future therapies...
  2. ncbi Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agents
    Soo Lo
    Department of Oncology, Royal Free and University College Medical School, University College London, London W1P 8BT, UK
    Int J Oncol 27:337-44. 2005
    ..Mitochondrial DNA is a critical target for MKT-077 and daunorubicin, and is a potential target for novel chemotherapeutic agents...
  3. pmc Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease
    Laura D Osellame
    Department of Cell and Developmental Biology, University College London, London WC1E 6BT, UK
    Cell Metab 17:941-53. 2013
    ..These data provide conclusive evidence for mitochondrial dysfunction in GD and provide insight into the pathogenesis of PD and PD-GBA...
  4. ncbi PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis
    Matthew E Gegg
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Autophagy 7:243-5. 2011
    ..Here, we discuss how ubiquitination of the mitofusins might facilitate mitochondria degradation and the potential for activating mitophagy as a treatment for diseases affecting brain and muscle...
  5. pmc G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization
    Tatiana D Papkovskaia
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London NW3 2PF, UK
    Hum Mol Genet 21:4201-13. 2012
    ....
  6. pmc Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy
    Matthew E Gegg
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Hum Mol Genet 19:4861-70. 2010
    ..PINK1 and parkin are thus required for the removal of damaged mitochondria in dopaminergic cells, and inhibition of this pathway may lead to the accumulation of defective mitochondria which may contribute to PD pathogenesis...
  7. pmc Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    Daniel G Healy
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:583-90. 2008
    ..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?..
  8. doi Molecular and clinical pathways to neuroprotection of dopaminergic drugs in Parkinson disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Institute of Neurology, University College London, London, NW3 2PF, UK
    Neurology 72:S44-50. 2009
    ..The basis for this may lie in the support of basal ganglia compensatory mechanisms and the restoration of normal dopaminergic transmission...
  9. ncbi Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up
    Paul E Hart
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, London, England
    Arch Neurol 62:621-6. 2005
    ....
  10. ncbi Clinical correlates of mitochondrial function in Huntington's disease muscle
    Christopher Turner
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London, United Kingdom
    Mov Disord 22:1715-21. 2007
    ..These results provide additional evidence that mutant huntingtin influences mitochondrial complex II/III function in non-neuronal tissue (skeletal muscle) and suggest that muscle may be a potential marker of disease progression in HD...
  11. ncbi Novel pharmacological targets for the treatment of Parkinson's disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Rowland Hill Street, London NW3 2PF, UK
    Nat Rev Drug Discov 5:845-54. 2006
    ....
  12. doi Relationship between alpha synuclein phosphorylation, proteasomal inhibition and cell death: relevance to Parkinson's disease pathogenesis
    Kai Yin Chau
    University Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    J Neurochem 110:1005-13. 2009
    ....
  13. doi Etiology and pathogenesis of Parkinson disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Neurol Clin 27:583-603, v. 2009
    ..Specific toxins can cause dopaminergic cell death in man and animals, but they probably have limited relevance to the etiology of PD...
  14. doi Molecular and clinical prodrome of Parkinson disease: implications for treatment
    Anthony H V Schapira
    Department of Clinical Neurosciences, Institute of Neurology, University College Medical School, Rowland Hill Street, London NW3 2PF, UK
    Nat Rev Neurol 6:309-17. 2010
    ..The awareness of the early symptomatic period of PD also raises the possibility of providing treatments that not only improve motor function but might also favorably modify outcome...
  15. doi Future directions in the treatment of Parkinson's disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London, UK
    Mov Disord 22:S385-91. 2007
    ..A range of nondopaminergic drugs including alpha 2-adrenergic antagonists, serotoninergics, and adenosine A2a antagonists are in late-stage development for PD and offer benefit for motor symptoms and motor complications...
  16. ncbi Pramipexole protects against apoptotic cell death by non-dopaminergic mechanisms
    Mei Gu
    Royal Free and University College Medical School, University College London, London, UK
    J Neurochem 91:1075-81. 2004
    ..Further evaluation is required to determine whether the neuroprotective action of pramipexole is translated to a disease-modifying effect in PD patients...
  17. ncbi Genetic and environmental factors in the cause of Parkinson's disease
    Thomas T Warner
    Department of Clinical Neurosciences, Royal Free and University College Medical School, London NW3 2PF, United Kingdom
    Ann Neurol 53:S16-23; discussion S23-5. 2003
    ..This article reviews the evidence in support of genetic and environmental factors in the cause of PD...
  18. doi Mitochondrial diseases
    Anthony H V Schapira
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet 379:1825-34. 2012
    ..Importantly, the mitochondrion is now a target for therapeutic interventions that encompass small molecules, transcriptional regulation, and genetic manipulation, offering opportunities to treat a diverse range of diseases...
  19. ncbi Etiology of Parkinson's disease
    Anthony H V Schapira
    Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, United Kingdom
    Neurology 66:S10-23. 2006
    ..Therefore, common themes are beginning to emerge in the etiopathogenesis of PD. This bodes well for research focused on the development of treatments that will modify the course of PD...
  20. doi Future strategies for neuroprotection in Parkinson's disease
    Anthony H V Schapira
    Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London, NW3 2PF, UK
    Neurodegener Dis 7:210-2. 2010
    ..Trials conducted so far have provided some indication of a positive effect, although the mechanism underlying this is not yet known...
  21. ncbi International Cooperative Ataxia Rating Scale (ICARS): appropriate for studies of Friedreich's ataxia?
    Stefan J Cano
    Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK
    Mov Disord 20:1585-91. 2005
    ..Further validity testing, and examination of responsiveness, is required before the ICARS can be recommended as an outcome measure for treatment trials of FDRA...
  22. doi Mitochondrial dysfunction in neurodegenerative diseases
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London, NW3 2PF, UK
    Neurochem Res 33:2502-9. 2008
    ..g. oxidative stress that may contribute to senescence, and environmental toxins that may cause disease either alone or in combination with a genetic predisposition...
  23. ncbi Rationale for the use of dopamine agonists as neuroprotective agents in Parkinson's disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, UCL, Queen Square, London, United Kingdom
    Ann Neurol 53:S149-57; discussion S157-9. 2003
  24. doi Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
    Jan Willem Taanman
    Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London, United Kingdom
    Neuromuscul Disord 19:151-4. 2009
    ..The patient's fibroblasts showed gradual loss of the mitochondrial DNA-encoded subunit I of cytochrome-c oxidase, suggesting a progressive mitochondrial DNA defect in culture...
  25. doi Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion
    Jan Willem Taanman
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom
    Hum Mutat 30:248-54. 2009
    ..The assays may facilitate the identification of those patients in whom screening for POLG mutations would be most appropriate...
  26. doi Drug selection and timing of initiation of treatment in early Parkinson's disease
    Anthony H V Schapira
    University Department of Clinical Neuroscience, Institute of Neurology, London, United Kingdom
    Ann Neurol 64:S47-55. 2008
    ..The most important limiting factor for the use of levodopa is the emergence of motor complications. These are related to a number of factors including the dose of levodopa and the duration of its use...
  27. doi Chaperone-mediated autophagy markers in Parkinson disease brains
    Lydia Alvarez-Erviti
    Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas, University of Navarra, Pamplona, Spain
    Arch Neurol 67:1464-72. 2010
    ..To investigate chaperone-mediated autophagy in the pathogenesis of Parkinson disease (PD)...
  28. doi Rationale for delayed-start study of pramipexole in Parkinson's disease: the PROUD study
    Anthony H V Schapira
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom
    Mov Disord 25:1627-32. 2010
    ..The results of PROUD will provide insight into the potential for early versus delayed treatment with pramipexole to modify motor outcome at 15 months in recently diagnosed PD patients...
  29. ncbi Mitochondrial dysfunction associated with neuronal death following status epilepticus in rat
    Hannah R Cock
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, WC1N 3BG, London, UK
    Epilepsy Res 48:157-68. 2002
    ..The pattern of abnormalities is consistent with reversible mechanisms being involved in excitotoxic cell damage. This, together with the timing of changes, suggests new avenues for therapeutic intervention...
  30. ncbi Restless legs syndrome: an update on treatment options
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK
    Drugs 64:149-58. 2004
    ..Hypnosedatives also have a role in RLS management. Patients with intractable RLS may require combination treatment. Several systemic disorders can cause RLS, and these should be identified and treated appropriately...
  31. ncbi Neuroprotection and dopamine agonists
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, and the Institute of Neurology, University College London, London, UK
    Neurology 58:S9-18. 2002
    ..If the neuroprotective action of this drug is confirmed in patients with PD, this will have important implications for its early use in patients...
  32. ncbi Proteasomal inhibition causes loss of nigral tyrosine hydroxylase neurons
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Royal Free and University College, Medical School, London, United Kingdom
    Ann Neurol 60:253-5. 2006
    ..Systemic inhibition of the UPS warrants further evaluation as a means to model Parkinson's disease...
  33. doi Aetiopathogenesis of Parkinson's disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London NW3 2PF, UK
    J Neurol 258:S307-10. 2011
    ..The importance of identifying the molecular and biochemical events that lead to PD lies in the prospect that novel drug targets will emerge and that new compounds will be developed that slow the progression of the disease...
  34. doi Protection against paraquat and A53T alpha-synuclein toxicity by cabergoline is partially mediated by dopamine receptors
    Kai Yin Chau
    University Department of Clinical Neurosciences, Institute of Neurology Royal Free Campus, University College London, Rowland Hill Street, London NW3 2PF, UK
    J Neurol Sci 278:44-53. 2009
    ..These results confirm the protective action of cabergoline in reducing cell death in two separate genetic and environmental model systems of PD...
  35. ncbi Disease modification in Parkinson's disease
    Anthony H V Schapira
    Royal Free and University College Medical School and the Institute of Neurology, University College London, UK
    Lancet Neurol 3:362-8. 2004
    ..The most important challenge, particularly for those drugs that might have a symptomatic effect, is defining appropriate markers that will confirm a neuroprotective effect...
  36. doi Safinamide in the treatment of Parkinson's disease
    Anthony H V Schapira
    University College London, Institute of Neurology, Department of Clinical Neurosciences, Rowland Hill Street, London NW3 2PF, UK
    Expert Opin Pharmacother 11:2261-8. 2010
    ..New drugs offering both dopaminergic and non-dopaminergic actions could offer a significant advantage...
  37. doi Extended-release pramipexole in advanced Parkinson disease: a randomized controlled trial
    Anthony H V Schapira
    Institute of Neurology, University College London, London, UK
    Neurology 77:767-74. 2011
    ..In advanced Parkinson disease (PD), immediate-release pramipexole, taken 3 times daily, improves symptoms and quality of life. A once-daily extended-release formulation may be an effective and simple alternative therapy...
  38. doi The clinical relevance of levodopa toxicity in the treatment of Parkinson's disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom
    Mov Disord 23:S515-20. 2008
    ..Indeed, there is no evidence to indicate that levodopa is toxic to PD patients, and even some suggestion that it may be protective...
  39. ncbi Timing of treatment initiation in Parkinson's disease: a need for reappraisal?
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, UK
    Ann Neurol 59:559-62. 2006
  40. doi Neuroprotection in Parkinson's disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Institute of Neurology, UCL, London, UK
    Parkinsonism Relat Disord 15:S41-3. 2009
    ..Several drugs have attracted attention as potential neuroprotective agents in PD. There are numerous studies demonstrating beneficial effects in the laboratory, but clinical efficacy for neuroprotection remains unproven...
  41. ncbi Treatment options in the modern management of Parkinson disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Institute of Neurology, University College London, England
    Arch Neurol 64:1083-8. 2007
  42. doi Neurobiology and treatment of Parkinson's disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences, University College London, London NW3 2PF, UK
    Trends Pharmacol Sci 30:41-7. 2009
    ..Particular progress has been made in the field of neuroprotection, where novel therapies and clinical trial designs are being tested. This review will focus particularly upon this area...
  43. ncbi Mitochondria in the aetiology and pathogenesis of Parkinson's disease
    Anthony H V Schapira
    University Department of Clinical Neurosciences and Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:97-109. 2008
    ....
  44. ncbi Differences in toxicity of the catechol-O-methyl transferase inhibitors, tolcapone and entacapone to cultured human neuroblastoma cells
    L V Prasad Korlipara
    University Department of Clinical Neuroscience, Royal Free and University College Medical School, Rowland Hill Street, London NW3 2PF, UK
    Neuropharmacology 46:562-9. 2004
    ..However its toxicity may also involve a mechanism independent of its effects upon oxidative phosphorylation...
  45. ncbi Polyphenotypic expression of mitochondrial toxicity caused by nucleoside reverse transcriptase inhibitors
    Robert F Miller
    Department of Sexually Transmitted Diseases, Royal Free and University College Medical School, University College London and Camden Primary Care Trust, London, UK
    Antivir Ther 8:253-7. 2003
    ..At this stage, dual protease inhibitors and nevirapine were started. A repeat muscle biopsy 14 months after presentation showed normal morphology and respiratory chain biochemistry was almost normal...
  46. doi Parkinsonism in patients with chronic hepatitis C treated with interferon-alpha2b: a report of two cases
    Mikio Kajihara
    Centre for Hepatology, Department of Medicine, University College London Medical School, University College London, London, UK
    Eur J Gastroenterol Hepatol 22:628-31. 2010
    ..Prompt withdrawal of treatment is mandatory but does not always guarantee reversal of the Parkinsonian features...
  47. ncbi Relapsing neuropathy in an 18-year-old woman
    Lionel Ginsberg
    University Department of Clinical Neurosciences, Hampstead Campus, Royal Free and University College Medical School, University College London, UK
    Lancet Neurol 6:192-8. 2007
  48. ncbi Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease
    Jan Willem Taanman
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK
    Neurosci Lett 376:56-9. 2005
    ..Our results rule out POLG CAG repeat instability as a common pathogenic mechanism in idiopathic Parkinson's disease...
  49. ncbi Neuroprotection in Parkinson disease: mysteries, myths, and misconceptions
    Anthony H V Schapira
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, and Institute of Neurology, Queen Square, London, England
    JAMA 291:358-64. 2004
    ..We review clinical trials aimed at detecting neuroprotection in Parkinson disease and address the controversies surrounding the interpretation of these studies...
  50. doi Rasagiline in neurodegeneration
    Anthony H V Schapira
    Institute of Neurology, University College London, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK
    Exp Neurol 212:255-7. 2008
  51. ncbi Mitochondria and amyotrophic lateral sclerosis
    Richard W Orrell
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, London NW3 2PF, United Kingdom
    Int Rev Neurobiol 53:411-26. 2002
  52. ncbi Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis
    Steven R Danielson
    Department of Molecular Biosciences, University of California Davis, School of Veterinary Medicine, Davis, California 95616, USA
    J Biol Chem 277:5810-5. 2002
    ..These data indicate that the most common and severe LHON pathogenic mutations 11778 and 3460 predispose cells to apoptosis, which may be relevant for the pathophysiology of cell death in LHON, and potential therapy...
  53. doi Dopamine agonists in Parkinson's disease
    Mitsutoshi Yamamoto
    Department of Neurology, Kagawa, Prefectural Central Hospital, Takamatsu, Japan
    Expert Rev Neurother 8:671-7. 2008
    ..Thus, dopamine agonists contribute to several dimensions of the management of PD and have become an integral part of the disease treatment algorithm...
  54. ncbi Friedreich's ataxia: from disease mechanisms to therapeutic interventions
    Raffaele Lodi
    Dipartimento di Medicina Clinica e Biotecnologia Applicata, Universita di Bologna, Bologna, Italy
    Antioxid Redox Signal 8:438-43. 2006
    ..Pilot studies have shown the potential effect of antioxidant therapy in this condition and provide a strong rationale for designing larger clinical randomized trials...
  55. ncbi Role of the pharmacist in the effective management of wearing-off in Parkinson's disease
    William Simonson
    Commission for Certification in Geriatric Pharmacy
    Ann Pharmacother 41:1842-9. 2007
    ..To evaluate the role of the practicing pharmacist in the identification and current treatment of the levodopa wearing-off phenomenon experienced by patients with Parkinson's disease (PD) who are receiving chronic levodopa therapy...
  56. ncbi Neuroprotection for Parkinson's disease: prospects and promises
    C Warren Olanow
    Ann Neurol 53:S1-2. 2003
  57. ncbi TCH346 as a neuroprotective drug in Parkinson's disease: a double-blind, randomised, controlled trial
    C Warren Olanow
    Department of Neurology and Neuroscience, Mount Sinai School of Medicine, New York, NY 10029, USA
    Lancet Neurol 5:1013-20. 2006
    ..TCH346 is a potent anti-apoptotic drug that protects against loss of dopaminergic neurons in laboratory models. Our aim was to assess TCH346 as a neuroprotective drug in patients with Parkinson's disease...
  58. ncbi Prevalence of nonmotor symptoms in Parkinson's disease in an international setting; study using nonmotor symptoms questionnaire in 545 patients
    Pablo Martinez-Martin
    Unit of Neuroepidemiology, National Center for Epidemiology, Carlos III Institute of Health, Madrid, Spain
    Mov Disord 22:1623-9. 2007
    ....
  59. ncbi Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines
    Simone Beretta
    Department of Neuroscience and Biomedical Technologies, University of Milano Bicocca, San Gerardo Hospital, Monza, MI, Italy
    Brain 127:2183-92. 2004
    ..This observation is particularly relevant since EAAT1 is the major means of glutamate removal in the inner retina and this prevents retinal ganglion cells being damaged as a result of excitotoxicity...
  60. ncbi Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process
    Steven R Danielson
    Department of Molecular Biosciences, University of California Davis, Davis, CA 95616, USA
    Brain 128:1026-37. 2005
    ..If these results are confirmed in patient tissues, aldose reductase inhibitors could have some therapeutic value for LHON...
  61. ncbi Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids
    Alessandra Baracca
    Dipartimento di Biochimica, University of Bologna, Italy
    Arch Neurol 62:730-6. 2005
    ..Leber hereditary optic neuropathy (LHON) is a maternally inherited form of central vision loss associated with mitochondrial DNA point mutations that affect the ND subunits of complex I...
  62. ncbi Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene
    Sian D Spacey
    Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom
    Mov Disord 17:717-25. 2002
    ..This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous...
  63. ncbi The metric properties of a novel non-motor symptoms scale for Parkinson's disease: Results from an international pilot study
    Kallol Ray Chaudhuri
    National Parkinson Foundation Centre of Excellence, Kings College Hospital, London, United Kingdom
    Mov Disord 22:1901-11. 2007
    ..70). In conclusion, NMSS can be used to assess the frequency and severity of NMS in PD patients across all stages in conjunction with the recently validated non-motor questionnaire...
  64. ncbi Non-motor symptoms of Parkinson's disease: diagnosis and management
    K Ray Chaudhuri
    Movement Disorders Unit, Kings College Hospital, Guy s King s and St Thomas School of Medicine, London, UK
    Lancet Neurol 5:235-45. 2006
    ..Inevitably, the development of treatments that can slow or prevent the progression of Parkinson's disease and its multicentric neurodegeneration provides the best hope of curing non-motor symptoms...
  65. ncbi Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium
    Anna Ghelli
    Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Italy
    J Biol Chem 278:4145-50. 2003
    ..In conclusion, LHON cybrid cells forced by the reduced rate of glycolytic flux to utilize oxidative metabolism are sensitized to an apoptotic death through a mechanism involving mitochondria...
  66. ncbi Rotigotine transdermal patch in early Parkinson's disease: a randomized, double-blind, controlled study versus placebo and ropinirole
    Nir Giladi
    Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Mov Disord 22:2398-404. 2007
    ..Application-site reactions were predominantly mild or moderate in intensity. In conclusion, the rotigotine transdermal patch represents an effective and safe option for the treatment of patients with early Parkinson's disease...
  67. ncbi International multicenter pilot study of the first comprehensive self-completed nonmotor symptoms questionnaire for Parkinson's disease: the NMSQuest study
    Kallol Ray Chaudhuri
    Movement Disorders Unit, Kings College Hospital, University Hospital Lewisham, Guy s King s and St Thomas School of Medicine, London, United Kingdom
    Mov Disord 21:916-23. 2006
    ..Furthermore, frequently, problems such as diplopia, dribbling, apathy, blues, taste and smell problems were never previously disclosed to the health professionals...
  68. ncbi The importance of LRRK2 mutations in Parkinson disease
    Anthony H V Schapira
    Arch Neurol 63:1225-8. 2006