Research Topics
Genomes and Genes | Alan PestronkSummaryAffiliation: Washington University School of Medicine Country: USA Publications
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Publications
Brachio-cervical inflammatory myopathies: clinical, immune, and myopathologic featuresAlan 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...
Clinical and laboratory features of neuropathies with serum IgM binding to TS-HDSAlan 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)...- Acquired immune and inflammatory myopathies: pathologic classificationAlan 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)... - Motor neuropathies and serum IgM binding to NS6S heparin disaccharide or GM1 gangliosideAlan 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... - Vascular pathology in dermatomyositis and anatomic relations to myopathologyAlan 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... 
Novel GNE mutations in two phenotypically distinct HIBM2 patientsConrad 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...- Sensory neuropathy with monoclonal IgM binding to a trisulfated heparin disaccharideAlan 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... - Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementiaConrad C Weihl
Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA
Neuromuscul Disord 19:308-15. 2009.... - Qualitative and quantitative skeletal muscle ultrasound in late-onset acid maltase deficiencyCraig 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... - Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathyMatthew 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... - Skeletal muscle abnormalities and genetic factors related to vertical talusLaura 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... - Severe sensory ataxia and demyelinating polyneuropathy with IgM anti-GM2 and GalNAc-GD1A antibodiesGlenn 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... - Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromesRobert 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... - Peripheral neuropathy in an outpatient cohort of patients with Sjögren's syndromeGlenn 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... - Newborn brachial plexus palsy: evaluation of severity using quantitative ultrasound of muscleCraig 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... - Treatment of chronic inflammatory demyelinating polyneuropathy with high-dose intermittent intravenous methylprednisoloneGlenn 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... - Mitochondrial pathology in immune and inflammatory myopathiesArun 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... - Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradationConrad 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... - Inflammatory and immune myopathies: concepts in diagnosis and treatmentAlan Pestronk
Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA
J Child Neurol 17:205. 2002 - Complement 3 deficiency and oral prednisolone improve strength and prolong survival of laminin alpha2-deficient miceAnne 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... - Sporadic inclusion body myositis: possible pathogenesis inferred from biomarkersConrad 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... - An unusual pathologic feature associated with dermatomyositisJacinda B Sampson
Department of Neurology, University of Utah, Salt Lake City, UT, USA
Neuromuscul Disord 16:391-3. 2006.... - Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Christina 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... - Peripheral nerve size in normals and patients with polyneuropathy: an ultrasound studyCraig 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... - TDP-43 A315T mutation in familial motor neuron diseaseMichael 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... - Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutationsRobert H Baloh
Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Neurosci 27:422-30. 2007.... - Quantitative ultrasound using backscatter analysis in Duchenne and Becker muscular dystrophyCraig 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... - A novel, efficient, randomized selection trial comparing combinations of drug therapy for ALSPaul 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... - A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophyKathryn 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)... - Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase IIIPetra 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... - Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkleRobert 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... - Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in miceConrad 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... - Calibrated quantitative ultrasound imaging of skeletal muscle using backscatter analysisCraig 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... - An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man studyTimothy M Miller
Washington University School of Medicine, St Louis, MO, USA Electronic address
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... - Detection of peripheral nerve pathology: Comparison of ultrasound and MRICraig M Zaidman
From the Departments of Neurology C M Z, A P and Surgery S E M and Mallinckrodt Institute of Radiology J C B, Washington University School of Medicine, St Louis, MO and Vanderbilt University M J S, Nashville, TN
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... - The muscle protein dysferlin accumulates in the Alzheimer brainJames 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... - Inflammatory demyelinating neuropathiesGlenn 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... - Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutationsMark 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... - Amyotrophic lateral sclerosis: an emerging era of collaborative gene discoveryKatrina 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... - Antibody-associated polyneuropathy syndromes: principles and treatmentAndrew 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... - Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing proteinGiles 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... - Limb-girdle muscular dystrophy in the United StatesSteven 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... - Update of the Pompe disease mutation database with 107 sequence variants and a format for severity ratingMarian 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... - Treatment recommendations in Waldenstrom's macroglobulinemia: consensus panel recommendations from the Second International Workshop on Waldenstrom's MacroglobulinemiaMorie 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... - CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophyDiana 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... - Human monoclonal macroglobulins with antibody activityMarvin 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... - Whole-genome analysis of sporadic amyotrophic lateral sclerosisTravis 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...