Alan Pestronk

Summary

Affiliation: Washington University School of Medicine
Country: USA

Publications

  1. ncbi Brachio-cervical inflammatory myopathies: clinical, immune, and myopathologic features
    Alan Pestronk
    Washington University School of Medicine, Department of Neurology, St Louis, Missouri 63110, USA
    Arthritis Rheum 54:1687-96. 2006
  2. doi Clinical and laboratory features of neuropathies with serum IgM binding to TS-HDS
    Alan Pestronk
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Muscle Nerve 45:866-72. 2012
  3. doi Acquired immune and inflammatory myopathies: pathologic classification
    Alan Pestronk
    Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA
    Curr Opin Rheumatol 23:595-604. 2011
  4. doi Motor neuropathies and serum IgM binding to NS6S heparin disaccharide or GM1 ganglioside
    Alan Pestronk
    Department of Neurology, Washington University in St Louis School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    J Neurol Neurosurg Psychiatry 81:726-30. 2010
  5. doi Vascular pathology in dermatomyositis and anatomic relations to myopathology
    Alan Pestronk
    Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, St Louis, Missouri 63110, USA
    Muscle Nerve 42:53-61. 2010
  6. pmc Novel GNE mutations in two phenotypically distinct HIBM2 patients
    Conrad C Weihl
    Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, 660 S Euclid Avenue, Saint Louis, MO 63110, USA
    Neuromuscul Disord 21:102-5. 2011
  7. ncbi Sensory neuropathy with monoclonal IgM binding to a trisulfated heparin disaccharide
    Alan Pestronk
    Washington University School of Medicine, Department of Neurology, Box 8111, 660 South Euclid Ave, St Louis, MO 63110, USA
    Muscle Nerve 27:188-95. 2003
  8. doi Coenzyme Q10 deficiency in children: frequent type 2C muscle fibers with normal morphology
    R Brian Sommerville
    Washington University School of Medicine, Department of Neurology, 660 S Euclid Avenue, Box 8111, St Louis, Missouri, USA
    Muscle Nerve 48:722-6. 2013
  9. pmc Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency
    Craig M Zaidman
    Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, St Louis, Missouri 63110, USA
    Muscle Nerve 44:418-23. 2011
  10. pmc Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia
    Conrad C Weihl
    Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA
    Neuromuscul Disord 19:308-15. 2009

Detail Information

Publications52

  1. ncbi Brachio-cervical inflammatory myopathies: clinical, immune, and myopathologic features
    Alan Pestronk
    Washington University School of Medicine, Department of Neurology, St Louis, Missouri 63110, USA
    Arthritis Rheum 54:1687-96. 2006
    ..To characterize patients with inflammatory myopathies who present with weakness in the proximal regions of the arms...
  2. doi Clinical and laboratory features of neuropathies with serum IgM binding to TS-HDS
    Alan Pestronk
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Muscle Nerve 45:866-72. 2012
    ..In this investigation we studied clinical and laboratory features of polyneuropathies in patients with serum IgM binding to the trisulfated disaccharide IdoA2S-GlcNS-6S (TS-HDS)...
  3. doi Acquired immune and inflammatory myopathies: pathologic classification
    Alan Pestronk
    Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA
    Curr Opin Rheumatol 23:595-604. 2011
    ..We discuss pathology-based characterization and classification of acquired immune and inflammatory myopathies (IIMs)...
  4. doi Motor neuropathies and serum IgM binding to NS6S heparin disaccharide or GM1 ganglioside
    Alan Pestronk
    Department of Neurology, Washington University in St Louis School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    J Neurol Neurosurg Psychiatry 81:726-30. 2010
    ..This study compared the frequency and clinical associations of serum IgM binding to a different antigen, a disulphated heparin disaccharide (NS6S), with results of IgM binding to GM1...
  5. doi Vascular pathology in dermatomyositis and anatomic relations to myopathology
    Alan Pestronk
    Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, St Louis, Missouri 63110, USA
    Muscle Nerve 42:53-61. 2010
    ..Chronic immune vascular damage and insufficiency in dermatomyositis may cause ischemia, myofiber atrophy, and capillary damage in "watershed" regions of muscle near the avascular perimysium...
  6. pmc Novel GNE mutations in two phenotypically distinct HIBM2 patients
    Conrad C Weihl
    Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, 660 S Euclid Avenue, Saint Louis, MO 63110, USA
    Neuromuscul Disord 21:102-5. 2011
    ..His muscle biopsy showed prominent necrosis without rimmed vacuoles. This study expands the phenotype and illustrates the clinical spectrum of HIBM2 identified in a U.S. based neuromuscular clinic...
  7. ncbi Sensory neuropathy with monoclonal IgM binding to a trisulfated heparin disaccharide
    Alan Pestronk
    Washington University School of Medicine, Department of Neurology, Box 8111, 660 South Euclid Ave, St Louis, MO 63110, USA
    Muscle Nerve 27:188-95. 2003
    ..The role of IgM binding to TS-HDS in the pathogenesis of the neuropathy remains to be determined...
  8. doi Coenzyme Q10 deficiency in children: frequent type 2C muscle fibers with normal morphology
    R Brian Sommerville
    Washington University School of Medicine, Department of Neurology, 660 S Euclid Avenue, Box 8111, St Louis, Missouri, USA
    Muscle Nerve 48:722-6. 2013
    ..Neurological disorders with low tissue coenzyme Q10 (CoQ10) levels are important to identify, as they may be treatable...
  9. pmc Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiency
    Craig M Zaidman
    Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, St Louis, Missouri 63110, USA
    Muscle Nerve 44:418-23. 2011
    ..Acid maltase deficiency (AMD, or Pompe disease) is an inherited myopathic disorder of glycogen degradation. Diagnosis is often delayed. Muscle ultrasound could improve diagnosis...
  10. pmc Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia
    Conrad C Weihl
    Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA
    Neuromuscul Disord 19:308-15. 2009
    ....
  11. doi Multifocal radiculoneuropathy during ipilimumab treatment of melanoma
    Georgios Manousakis
    Department of Neurology Washington University School of Medicine, 600 South Euclid Avenue, St Louis, Missouri, 63110, USA
    Muscle Nerve 48:440-4. 2013
    ..Ipilimumab, a monoclonal anti-CTLA-4 antibody, is used to treat melanoma. Neuromuscular side effects, possibly autoimmune, may occur...
  12. pmc Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy
    Matthew B Harms
    Department of Neurology, Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 71:407-16. 2012
    ..To identify the causative gene in an autosomal dominant limb-girdle muscular dystrophy (LGMD) with skeletal muscle vacuoles...
  13. pmc Skeletal muscle abnormalities and genetic factors related to vertical talus
    Laura J Merrill
    Departments of Orthopaedic Surgery, Washington University School of Medicine, 1 Children s Place, Suite 4S 60, St Louis, MO 63110, USA
    Clin Orthop Relat Res 469:1167-74. 2011
    ..Identifying the tissue abnormalities and genetic causes responsible for vertical talus has the potential to lead to improved treatment and preventive strategies...
  14. ncbi Severe sensory ataxia and demyelinating polyneuropathy with IgM anti-GM2 and GalNAc-GD1A antibodies
    Glenn Lopate
    Department of Neurology, Box 8111, Washington University School of Medicine, 660 South Euclid Ave, St Louis, Missouri 63110, USA
    Muscle Nerve 25:828-36. 2002
    ..Diagnosis of this syndrome is important to direct appropriate treatment...
  15. ncbi Peripheral neuropathy in an outpatient cohort of patients with Sjögren's syndrome
    Glenn Lopate
    Department of Neurology Washington University School of Medicine, 660 South Euclid Avenue, St Louis, Missouri 63110, USA
    Muscle Nerve 33:672-6. 2006
    ..Large-fiber dysfunction (as measured by testing vibration, deep tendon reflexes, and NCSs) was similar between the two groups. We conclude that small-fiber neuropathy is common in patients with SS...
  16. ncbi Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromes
    Robert H Baloh
    Department of Neurology, Washington University in St Louis, Box 8111, 660 South Euclid Avenue, St Louis, Missouri, USA
    Muscle Nerve 36:107-10. 2007
    ..The muscle biopsy pattern of frequent atrophic groups containing mixed fiber types should suggest a diagnosis of a motor neuron syndrome or motor neuropathy...
  17. doi Cramps and small-fiber neuropathy
    Glenn Lopate
    Department of Neurology, Division of Neuromuscular Disease, Washington University School of Medicine, Campus Box 8111, 660 South Euclid Avenue, St Louis, Missouri 63110, USA
    Muscle Nerve 48:252-5. 2013
    ..Muscle cramps are a common complaint and are thought to arise from spontaneous discharges of the motor nerve terminal. Polyneuropathy is often causative, but small-fiber neuropathy (SFN) has not been assessed...
  18. doi Newborn brachial plexus palsy: evaluation of severity using quantitative ultrasound of muscle
    Craig M Zaidman
    Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Box 8111, St Louis, Missouri 63110, USA
    Muscle Nerve 47:246-54. 2013
    ..We studied ultrasound features of muscle after nerve injury...
  19. doi Mitochondrial pathology in immune and inflammatory myopathies
    Arun S Varadhachary
    Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri, USA
    Curr Opin Rheumatol 22:651-7. 2010
    ..We will review one set of myopathologic features that occur in some IIMs, mitochondrial abnormalities, and consider its diagnostic, treatment-related and pathogenic implications...
  20. ncbi Treatment of chronic inflammatory demyelinating polyneuropathy with high-dose intermittent intravenous methylprednisolone
    Glenn Lopate
    Washington University School of Medicine, Department of Neurology, St Louis, MO 63110, USA
    Arch Neurol 62:249-54. 2005
    ..However, there is no consensus on initial therapy, and both of these treatments have drawbacks with long-term treatment...
  21. ncbi Inflammatory and immune myopathies: concepts in diagnosis and treatment
    Alan Pestronk
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    J Child Neurol 17:205. 2002
  22. ncbi Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation
    Conrad C Weihl
    Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Hum Mol Genet 15:189-99. 2006
    ..Undegraded mutant DeltaF508-CFTR also accumulates in these aggregates. We conclude that IBMPFD mutations in p97/VCP disrupt ERAD and that this may contribute to the pathogenesis of IBMPFD...
  23. ncbi Complement 3 deficiency and oral prednisolone improve strength and prolong survival of laminin alpha2-deficient mice
    Anne M Connolly
    Department of Neurology, Washington University School of Medicine, 660 S Euclid Ave, St Louis, MO 63110, USA
    J Neuroimmunol 127:80-7. 2002
    ..Because complement activity may be modified pharmacologically, this work may have implications for treatment of children with congenital muscular dystrophy secondary to laminin alpha2 deficiency...
  24. doi A novel, efficient, randomized selection trial comparing combinations of drug therapy for ALS
    Paul H Gordon
    Department of Neurology, Columbia University, New York, USA
    Amyotroph Lateral Scler 9:212-22. 2008
    ..This phase II design was efficient, leading to treatment selection after just 60 patients, and can be used in other phase II trials to assess different agents...
  25. ncbi Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle
    Robert H Baloh
    Department of Neurology, Washington University School of Medicine, PO Box 8111, 660 S Euclid Ave, St Louis, MO 63110, USA
    Arch Neurol 64:998-1000. 2007
    ..To describe the clinical phenotype and genetic basis of a family with autosomal dominant progressive external ophthalmoplegia and parkinsonism from a Twinkle mutation...
  26. doi Detection of peripheral nerve pathology: comparison of ultrasound and MRI
    Craig M Zaidman
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    Neurology 80:1634-40. 2013
    ..To compare accuracy of ultrasound and MRI for detecting focal peripheral nerve pathology, excluding idiopathic carpal or cubital tunnel syndromes...
  27. pmc Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
    Matthew B Harms
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    Neurobiol Aging 34:2234.e13-9. 2013
    ..Finally we also show evidence of somatic instability of the expansion size by Southern blot, with the largest expansions occurring in brain tissue...
  28. pmc Sporadic inclusion body myositis: possible pathogenesis inferred from biomarkers
    Conrad C Weihl
    Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, 660 S Euclid Avenue, Saint Louis, Missouri 63110, USA
    Curr Opin Neurol 23:482-8. 2010
    ..Our review will discuss current studies on these protein biomarkers and their utility in sIBM diagnosis...
  29. ncbi An unusual pathologic feature associated with dermatomyositis
    Jacinda B Sampson
    Department of Neurology, University of Utah, Salt Lake City, UT, USA
    Neuromuscul Disord 16:391-3. 2006
    ....
  30. pmc Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
    Christina A Gurnett
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 19:1165-73. 2010
    ..These findings reveal that the MYBPC1 is a novel gene responsible for DA1, though the mechanism of disease may differ from how some cardiac MYBPC3 mutations cause hypertrophic cardiomyopathy...
  31. doi Peripheral nerve size in normals and patients with polyneuropathy: an ultrasound study
    Craig M Zaidman
    Washington University School of Medicine, Department of Neurology, 660 S Euclid Avenue, Box 8111, St Louis, Missouri 63110, USA
    Muscle Nerve 40:960-6. 2009
    ..We conclude that NCSA measured by ultrasound is a quantifiable marker of nerve features that should be corrected for patient characteristics and nerve site. NCSA is generally larger in demyelinating than it is in axonal polyneuropathies...
  32. pmc TDP-43 A315T mutation in familial motor neuron disease
    Michael A Gitcho
    Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 63:535-8. 2008
    ..The discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration...
  33. doi Ultrasound of inherited vs. acquired demyelinating polyneuropathies
    Craig M Zaidman
    Department of Neurology, Washington University School of Medicine, 660 S Euclid Ave, Box 8111, St Louis, MO, 63110, USA
    J Neurol 260:3115-21. 2013
    ..Normal, mildly, or regionally enlarged nerves in demyelinating polyneuropathy suggests an acquired etiology. Early treatment in CIDP may impede nerve enlargement...
  34. pmc An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study
    Timothy M Miller
    Washington University School of Medicine, St Louis, MO, USA
    Lancet Neurol 12:435-42. 2013
    ..We aimed to assess the safety, tolerability, and pharmacokinetics of ISIS 333611 after intrathecal administration in patients with SOD1-related familial amyotrophic lateral sclerosis...
  35. ncbi Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations
    Robert H Baloh
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 27:422-30. 2007
    ....
  36. pmc Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase III
    Petra Kaufmann
    Department of Neurology, Clinical Coordinating Center, Columbia University, New York, NY 10032, USA
    Ann Neurol 66:235-44. 2009
    ..Our aims were to choose between two high doses of CoQ10 for ALS, and to determine if it merits testing in a Phase III clinical trial...
  37. pmc Quantitative ultrasound using backscatter analysis in Duchenne and Becker muscular dystrophy
    Craig M Zaidman
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    Neuromuscul Disord 20:805-9. 2010
    ..Longitudinal studies are required to determine the sensitivity of this measure to changes in pathology over time...
  38. doi A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy
    Kathryn R Wagner
    Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287 7519, USA
    Ann Neurol 63:561-71. 2008
    ..We conducted a safety trial of a neutralizing antibody to myostatin, MYO-029, in adult muscular dystrophies (Becker muscular dystrophy, facioscapulohumeral dystrophy, and limb-girdle muscular dystrophy)...
  39. ncbi Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice
    Conrad C Weihl
    Department of Neurology, Washington University School of Medicine, 660 S Euclid Avenue, Saint Louis, MO 63110, USA
    Hum Mol Genet 16:919-28. 2007
    ..TgVCP-RH animals will be a valuable tool for understanding the pathogenesis of IBM and the role of the UPS in skeletal muscle...
  40. doi Calibrated quantitative ultrasound imaging of skeletal muscle using backscatter analysis
    Craig M Zaidman
    Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Muscle Nerve 38:893-8. 2008
    ..Calibrated measurements of muscle backscatter have sensitivity and specificity in identifying and reliably measuring levels of skeletal muscle pathology...
  41. pmc The muscle protein dysferlin accumulates in the Alzheimer brain
    James E Galvin
    Alzheimer Disease Research Center, Washington University School of Medicine, 4488 Forest Park, Suite 130, St Louis, MO 63108, USA
    Acta Neuropathol 112:665-71. 2006
    ..In muscle, dysferlin plays a role in the repair of muscle membrane damage. The accumulation of dysferlin in the AD brain may be related to the inability of neurons to repair damage due to A beta deposits accumulating in the AD brain...
  42. ncbi Inflammatory demyelinating neuropathies
    Glenn Lopate
    Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8111, St Louis, MO, 63110, USA
    Curr Treat Options Neurol 13:131-42. 2011
    ..Patients who do not respond to initial therapy, experience adverse effects from the initial immunomodulating agent, or require chronic treatment can be treated with another first-line agent or one of several second-line agents...
  43. ncbi Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations
    Mark S Forman
    Department of Pathology, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA
    J Neuropathol Exp Neurol 65:571-81. 2006
    ..Our findings are consistent with the hypothesis that the pathology associated with VCP gene mutations is the result of impairment of ubiquitin-based degradation pathways...
  44. ncbi Antibody-associated polyneuropathy syndromes: principles and treatment
    Andrew J Kornberg
    Department of Neurology, Royal Children s Hospital, Parkville, Victoria, Australia
    Semin Neurol 23:181-90. 2003
    ..The general principles regarding therapy of immune neuropathies will be discussed with a focus on diagnosis and treatment options of the demyelinating and immunoglobulin M antibody-associated neuropathies...
  45. ncbi Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    Giles D J Watts
    Division of Genetics, Children s Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 36:377-81. 2004
    ..Identification of VCP as causing IBMPFD has important implications for other inclusion-body diseases, including myopathies, dementias and Paget disease of bone (PDB), as it may define a new common pathological ubiquitin-based pathway...
  46. ncbi Limb-girdle muscular dystrophy in the United States
    Steven A Moore
    University of Iowa, Iowa City, 52242, USA
    J Neuropathol Exp Neurol 65:995-1003. 2006
    ..The most common LGMDs in the United States are calpainopathies, dysferlinopathies, sarcoglycanopathies, and dystroglycanopathies...
  47. pmc Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery
    Katrina Gwinn
    National Institute for Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 2:e1254. 2007
    ..This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS...
  48. ncbi Treatment recommendations in Waldenstrom's macroglobulinemia: consensus panel recommendations from the Second International Workshop on Waldenstrom's Macroglobulinemia
    Morie A Gertz
    Mayo Clinic, Rochester, MN, USA
    Semin Oncol 30:121-6. 2003
    ..11) Corticosteroids may be useful in the treatment of symptomatic mixed cryoglobulinemia. (12) Splenectomy is rarely indicated but has been used to manage painful splenomegaly and hypersplenism...
  49. ncbi Whole-genome analysis of sporadic amyotrophic lateral sclerosis
    Travis Dunckley
    Translational Genomics Research Inst, Phoenix, AZ 85004, USA
    N Engl J Med 357:775-88. 2007
    ..Approximately 90% of persons with amyotrophic lateral sclerosis (ALS) have the sporadic form, which may be caused by the interaction of multiple environmental factors and previously unknown genes...
  50. ncbi Human monoclonal macroglobulins with antibody activity
    Marvin J Stone
    Baylor Charles A Sammons Cancer Center, Dallas, TX 75246, USA
    Semin Oncol 30:318-24. 2003
    ..quot; Characterization of antigen-binding activities may provide insight into the pathogenesis of monoclonal gammopathies...
  51. ncbi CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy
    Diana M Escolar
    Children s National Medical Center, George Washington University, Washington, DC, USA
    Ann Neurol 58:151-5. 2005
    ..Creatine and glutamine were well tolerated...
  52. doi Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating
    Marian Kroos
    Departments of Clinical Genetics and Pediatrics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mutat 29:E13-26. 2008
    ..Further, this article introduces a tool to rate the various mutations by severity, which will improve understanding of the genotype-phenotype correlation and facilitate the diagnosis and prognosis in Pompe disease...