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Genomes and GenesSpecies | Christopher J KleinSummaryAffiliation: Mayo Clinic Country: USA Publications
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Publications
DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing lossChristopher J Klein
Department of Neurology, Division of Peripheral Nerve Diseases, Mayo Clinic, Rochester, MN, USA
Neurology 80:824-8. 2013..The chromosomal location of the DNMT1 gene at 19p13.2 has been linked to familial late-onset Alzheimer disease...
Insights from LGI1 and CASPR2 potassium channel complex autoantibody subtypingChristopher J Klein
Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
JAMA Neurol 70:229-34. 2013....
Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgiaChristopher J Klein
Department of Neurology, Division of Peripheral Nerve Diseases, Mayo Clinic, Rochester, MN 55905, USA
J Neurol Neurosurg Psychiatry 84:386-91. 2013..We sought to investigate for SCN9A mutations in a clinically well-characterised cohort of patients with CIP and erythromelalgia...
Surgical and postpartum hereditary brachial plexus attacks and prophylactic immunotherapyChristopher J Klein
Department of Neurology, Division of Peripheral Nerve Diseases and Medical Genetics, Mayo Clinic Foundation, 200 First Street S W, Rochester, Minnesota, USA
Muscle Nerve 47:23-7. 2013..Surgery and childbirth can trigger attacks of hereditary brachial plexus neuropathy (HBPN), and inflammation was suggested as a component of the pathogenesis...
Chronic pain as a manifestation of potassium channel-complex autoimmunityChristopher J Klein
Department of Neurology, Mayo Clinic, Rochester, MN, USA
Neurology 79:1136-44. 2012..Autoantibodies targeting voltage-gated potassium channel (VGKC) complexes cause a spectrum of neuronal hyperexcitability disorders. We investigated pain as a manifestation of VGKC-complex autoimmunity...
SEPT9 mutations and a conserved 17q25 sequence in sporadic and hereditary brachial plexus neuropathyChristopher J Klein
Peripheral Neuropathy Research Laboratory, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
Arch Neurol 66:238-43. 2009..These mutations were not found in North American kindreds with H-BPN with a conserved 500-kilobase sequence of DNA at the 17q25 chromosomal region (where SEPT9 localizes) where a founder mutation has been suggested...
Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissueChristopher J Klein
Department of Neurology Peripheral Nerve Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Arch Neurol 68:195-9. 2011..To determine the specific type of amyloid from nerve biopsies using laser microdissection (LMD) and mass spectrometric (MS)-based proteomic analysis...
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathiesC J Klein
Department of Neurology and Division of Peripheral Nerve Diseases, Mayo Clinic Foundation, Rochester, MN 55905, USA
Neurology 76:887-94. 2011..To improve understanding of TRPV4-associated axonal Charcot-Marie-Tooth (CMT) neuropathy phenotypes and their debated pathologic mechanism...
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing lossChristopher J Klein
Mayo Clinic, Department of Neurology, Division of Peripheral Nerve Diseases, Rochester, Minnesota, USA
Nat Genet 43:595-600. 2011..Our study shows that DNMT1 mutations cause the aberrant methylation implicated in complex pathogenesis. The discovered DNMT1 mutations provide a new framework for the study of neurodegenerative diseases...
The inherited neuropathiesChristopher J Klein
Department of Neurology, Division of Peripheral Nerve Diseases, Mayo Clinic, Rochester, MN, USA
Neurol Clin 25:173-207. 2007..the rapidity of the ongoing discovery requires clinicians to be familiar with molecular biologic discoveries and consider wisely which testing should be performed...
Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondriaChristopher J Klein
Division of Neuroimmunology, Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
Arch Neurol 68:1295-302. 2011..The results of the nerve biopsy specimens suggested that the mitochondria are structurally abnormal in patients with MFN2 mutations...
Pathology and molecular genetics of inherited neuropathyChristopher J Klein
Department of Neurology, Mayo Clinic, Guggenheim 811, 200 First Street, Rochester, MN 55905, USA
J Neurol Sci 220:141-3. 2004
SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathiesC J Klein
The Peripheral Neuropathy Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
J Neurol Neurosurg Psychiatry 76:1022-4. 2005..Some cases of idiopathic sensory neuropathy could be caused by missense mutations of SPTLC1 and RAB7 and not be recognised as familial...
Inflammation and neuropathic attacks in hereditary brachial plexus neuropathyC J Klein
Peripheral Neuropathy Research Center, Mayo Clinic, Rochester, Minnesota 55905, USA
J Neurol Neurosurg Psychiatry 73:45-50. 2002....
The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disordersC J Klein
Peripheral Neuropathy Research Laboratory, Mayo Clinic and Mayo Foundation, Rochester, MN, USA
Neurology 60:1151-6. 2003..Hereditary motor and sensory neuropathy type 2C (HMSN2C, Charcot-Marie-Tooth 2C [CMT2C]) is an autosomal dominant motor and sensory neuropathy involving limb, diaphragm, vocal cord, and intercostal muscles...
Genetic testing in inherited peripheral neuropathiesChristopher J Klein
Peripheral Neuropathy Research Laboratory, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
J Peripher Nerv Syst 10:77-84. 2005
Adult polyglucosan body disease: case description of an expanding genetic and clinical syndromeChristopher J Klein
Department of Neurology, Mayo Clinic and Mayo Foundation, 200 First Street SW, Rochester, Minnesota 55905, USA
Muscle Nerve 29:323-8. 2004..These findings expand the clinical and genetic spectrum of APBD. Factors other than mutation of the expressed GBE gene may cause enzyme deficiency and varied expression and development of APBD...
The neuropathies of Waldenström's macroglobulinemia (WM) and IgM-MGUSChristopher J Klein
Peripheral Nerve Research Laboratory, Department of Hematology, Mayo Clinic, Rochester, Minnesota 55905, USA
Can J Neurol Sci 38:289-95. 2011..Paraneoplastic or paraimmune mechanisms are thought to be involved in the pathogenesis of these neuropathies. Attempts at distinguishing WM and IgM-MGUS neuropathies are lacking especially among bone marrow (BM) confirmed patients...
Antibodies to myelin-associated glycoprotein (anti-Mag) in IgM amyloidosis may influence expression of neuropathy in rare patientsMercedes Garces-Sanchez
Peripheral Nerve Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
Muscle Nerve 37:490-5. 2008..They do not appear to affect the occurrence or expression of polyneuropathy, except possibly in occasional cases with WB positivity...
Signs and symptoms versus nerve conduction studies to diagnose diabetic sensorimotor polyneuropathy: Cl vs. NPhys trialPeter J Dyck
Peripheral Neuropathy Research Laboratory, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
Muscle Nerve 42:157-64. 2010..Study physician dx from signs and symptoms were excessively variable, often overestimating DSPN. Specific approaches to improving clinical proficiency should be tested...
Amyloid-like IgM deposition neuropathy: a distinct clinico-pathologic and proteomic profiled disorderJuan J Figueroa
Department of Neurology, Mayo Clinic, Rochester, MN, USA
J Peripher Nerv Syst 17:182-90. 2012..Patients have favorable survival, relative absence of autonomic features, and distinct proteomic profiles of the infiltrative protein in nerve...
Impaired glycemia and diabetic polyneuropathy: the OC IG SurveyPeter J Dyck
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
Diabetes Care 35:584-91. 2012....
Post-surgical inflammatory neuropathyNathan P Staff
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Brain 133:2866-80. 2010....
Identification of transthyretin variants by sequential proteomic and genomic analysisH Robert Bergen
WM Keck FT-ICR Mass Spectrometry Laboratory, Mayo Proteomics Research Center, Mayo Clinic College of Medicine, Rochester, MN, USA
Clin Chem 50:1544-52. 2004..This method correctly identified all previously known variants and also identified a novel variant, Val94Ala...
Purkinje cell cytoplasmic autoantibody type 1 accompaniments: the cerebellum and beyondAndrew McKeon
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Arch Neurol 68:1282-9. 2011..To investigate the full extent of Purkinje cell cytoplasmic autoantibody type 1 autoimmunity (classically associated with paraneoplastic cerebellar degeneration) from clinical, immunohistochemical, and neuropathological perspectives...
Disseminated sporotrichosis presenting with granulomatous inflammatory multiple mononeuropathiesMichelle L Mauermann
Department of Neurology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, Minnesota 55905, USA
Muscle Nerve 36:866-72. 2007..Based on clinical and pathological features, the mechanism of neuropathy may have been due to either direct nerve infection or a bystander effect of inflammatory/immune damage or, perhaps more likely, to both mechanisms...
Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathyTed M Burns
Department of Neurology, University of Virginia, Hospital Drive, McKim Hall, P O Box 800394, Charlottesville, VA 22908, USA
Neuromuscul Disord 16:308-10. 2006..We predict that other rapid symptom onset polyneuropathies will be found to have direct genetic susceptibility...
Modeling chronic glycemic exposure variables as correlates and predictors of microvascular complications of diabetesPeter J Dyck
Mayo Clinic College of Medicine, Department of Neurology, 200 First St SW, Rochester, MN 55905, USA
Diabetes Care 29:2282-8. 2006..Specifically, we test whether combinations of components correlate and predict complications better than individual components...
Isolated amyloidosis presenting with lumbosacral radiculoplexopathy: description of two cases and pathogenic reviewShafeeq S Ladha
Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
J Peripher Nerv Syst 11:346-52. 2006..The limited literature and experience among other cases is described...
Epidermal nerve fibers: confidence intervals and continuous measures with nerve conductionJaNean K Engelstad
Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA
Neurology 79:2187-93. 2012..Our second objective was to introduce a new continuous measure combining nerve conduction and ENFs/mm...
Voltage-gated potassium channel autoimmunity mimicking creutzfeldt-jakob diseaseMichael D Geschwind
Neuroimmunology Laboratory, Hilton 3 78F, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
Arch Neurol 65:1341-6. 2008..Rapidly progressive dementia has a variety of causes, including Creutzfeldt-Jakob disease (CJD) and neuronal voltage-gated potassium channel (VGKC) autoantibody-associated encephalopathy...
IgM-monoclonal gammopathy neuropathy and tremor: a first epidemiologic case control studyMatthew C Ahlskog
Peripheral Nerve Research Laboratory, Mayo Clinic, Department of Neurology, 200 First Street SW, Rochester, MN 55905, USA
Parkinsonism Relat Disord 18:748-52. 2012..Epidemiologic study to confirm this association is lacking. Whether the neuropathy or another remote IgM-effect is causal remains unsettled...
Mass spectrometry analysis reveals non-mutated apolipoprotein A1 lumbosacral radiculoplexus amyloidomaAdam J Loavenbruck
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
Muscle Nerve 46:817-22. 2012..In all known reported cases, peripheral nerve amyloidomas have had immunoglobulin light-chain fibril composition and occurred in the context of paraproteinemia...
Striational antibodies in a paraneoplastic contextAndrew McKeon
Department of Medicine and Pathology, Mayo Clinic, Hilton 3 78, 200 First Street SW, Rochester, Minnesota 55905, USA
Muscle Nerve 47:585-7. 2013..The clinical significance of striational antibodies (StrAbs) detected in the course of paraneoplastic antibody testing is unknown...
Monotonicity of nerve tests in diabetes: subclinical nerve dysfunction precedes diagnosis of polyneuropathyPeter J Dyck
Department of Neurology, Mayo Clinic College of Medicine, 200 First St SW, Rochester, Minnesota 55905, USA
Diabetes Care 28:2192-200. 2005..The objective of this study was to test whether monotone worsening of nerve function, attributable to diabetes, can be demonstrated before criteria for diabetic sensorimotor polyneuropathy (DSPN) have been met. Which nerve tests are best?..
Diabetic cervical radiculoplexus neuropathy: a distinct syndrome expanding the spectrum of diabetic radiculoplexus neuropathiesRami Massie
Department of Neurology, Hopital du Sacre Coeur de Montreal, Montreal, QC, H4J 1C5, Canada
Brain 135:3074-88. 2012....
Psychiatric manifestations of voltage-gated potassium-channel complex autoimmunityKristin J Somers
Department of Psychiatry and Psychology, Mayo Clinic College of Medicine, Rochester, MN, USA
J Neuropsychiatry Clin Neurosci 23:425-33. 2011..Neuropsychiatric presentations were significantly associated with higher autoantibody values. Improvements were most evident in patients treated early, which emphasizes the need for early diagnosis and immunotherapy initiation...
Case of mononeuritis multiplex onset with rituximab therapy for Waldenström's macroglobulinemiaMichelle L Mauermann
Department of Neurology, Section of Peripheral Nerve, Mayo Clinic College of Medicine, 200 First St SW, Rochester, MN 55905, United States
J Neurol Sci 260:240-3. 2007....
Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndromeChristopher S Nance
Peripheral Neuropathy Research Center and Multiple Sclerosis Research Center, Mayo Clinic, Rochester, Minn, USA
Arch Neurol 63:453-7. 2006..His mother was heterozygous for the A143T mutation. CONCLUSION: The presentation of cramps and fasciculations without apparent small-fiber neuropathy expands the phenotype of later-onset Fabry disease...
Potassium channel complex autoimmunity induced by inhaled brain tissue aerosolJeffrey W Meeusen
Department of Laboratory Medicine and Pathology, College of Medicine, Mayo Clinic, Rochester, MN 55905, USA
Ann Neurol 71:417-26. 2012..To test the hypothesis that autoimmunity induced by inhalation of aerosolized brain tissue caused outbreaks of sensory-predominant polyradiculoneuropathy among swine abattoir employees in the Midwestern United States...
Elevated creatine kinase and transaminases in asymptomatic SBMAEric J Sorenson
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Amyotroph Lateral Scler 8:62-4. 2007..These cases emphasize the need to consider SBMA and genetic testing for the androgen receptor trinucleotide CAG expansion in males otherwise healthy with 'idiopathic' elevated creatinine kinase...
Imaging features of copper deficiency myelopathy: a study of 25 casesNeeraj Kumar
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Neuroradiology 48:78-83. 2006..Neuroradiologists should consider this possibility when a long segment of symmetric dorsal spinal cord T2-hyperintensity is identified...
Melarsoprol-associated multifocal inflammatory CNS illness in African trypanosomiasisN Kumar
Division of Infectious Diseases, Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Neurology 66:1120-1. 2006
A case of sensory ataxia as the presenting manifestation of neurosarcoidosisHaatem M Reda
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
Muscle Nerve 43:900-5. 2011..There was clinical and radiographic improvement with corticosteroids. In addition, we review previously reported cases of cauda equina sarcoidosis...
Does impaired glucose metabolism cause polyneuropathy? Review of previous studies and design of a prospective controlled population-based studyPeter J Dyck
Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
Muscle Nerve 36:536-41. 2007..Here we review previous studies, list the reasons that the issue needs further study, and outline a study now in progress to address the question more definitively...
Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosisD H Kilfoyle
Peripheral Nerve Group, Department of Neurology, Mayo Clinic, Genotyping Shared Resource Center of Advanced Genomic Technology Center, Rochester, Minnesota 55905, USA
J Neurol Neurosurg Psychiatry 77:963-6. 2006..CONCLUSIONS: MPZ mutation His39Pro may be associated with acute-onset neuropathy, early-onset hearing loss and restless legs. The relationship with multiple sclerosis in the proband remains uncertain...
Peripheral neuropathy incidence in inflammatory bowel disease: A population-based studyJuan J Figueroa
From the Department of Neurology, Peripheral Nerve Laboratory J J F, P J B D, C J K, Division of Gastroenterology and Hepatology E V L, and Division of Biomedical Statistics and Informatics W S H, Rochester Epidemiology Project, Mayo Clinic, Rochester, MN
Neurology 80:1693-7. 2013..Our aim was to determine the incidence of peripheral neuropathy in a population-based inflammatory bowel disease (IBD) cohort from Olmsted County, Minnesota...
Batch effect correction for genome-wide methylation data with Illumina Infinium platformZhifu Sun
Division of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic College of Medicine, 200 First Street, Rochester, MN 55905, USA
BMC Med Genomics 4:84. 2011..To date, little attention has been given to issues related to normalization and batch effect correction for this kind of data...
Meralgia paresthetica: relation to obesity, advanced age, and diabetes mellitusThomas J Parisi
Department of Graduate Medicine, Mayo Medical School, 200 First Street SW, Rochester, MN 55905, USA
Neurology 77:1538-42. 2011..To determine the incidence of meralgia paresthetica (MP) and its relationship to diabetes mellitus (DM) and obesity...
Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophyMichael Sinnreich
Peripheral Neuropathy Research Laboratory, Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN, USA
Can J Neurol Sci 31:378-82. 2004..To study the role of diabetes, gynecomastia and CAG triplet repeat size as disease modifying factors of neurologic expression in spinal bulbar muscular atrophy (SBMA, Kennedy's disease)...
Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathyC J Klein
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Neurology 51:1462-4. 1998..Direct DNA sequencing revealed both the normal TTT (phenylalanine) and a new variant TCT (serine) at position 44 of the TTR gene. This case expands the genotypic and phenotypic variability within TTR amyloidosis...
Clinical spectrum of voltage-gated potassium channel autoimmunityK M Tan
Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Neurology 70:1883-90. 2008..To document neurologic, oncologic, and serologic associations of patients in whom voltage-gated potassium channel (VGKC) autoantibodies were detected in the course of serologic evaluation for neuronal, glial, and muscle autoantibodies...
Chronic immune sensory polyradiculopathy: a possibly treatable sensory ataxiaM Sinnreich
Peripheral Neuropathy Research Laboratory, Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
Neurology 63:1662-9. 2004..This condition preferentially affects large myelinated fibers of the posterior roots, may respond favorably to treatment, and may be a restricted form of chronic inflammatory demyelinating polyradiculoneuropathy...
Lenalidomide therapy in a patient with POEMS syndromeAngela Dispenzieri
Blood 110:1075-6. 2007
Indifference rather than insensitivity to painChristopher J Klein
Ann Neurol 53:417-8; author reply 418-9. 2003
