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Genomes and Genes | M E ShySummaryAffiliation: Wayne State University Country: USA Publications
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Publications
Therapeutic strategies for the inherited neuropathiesMichael E Shy
Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit MI 48201, USA
Neuromolecular Med 8:255-78. 2006..Scientifically based clinical trials for CMT are currently being implemented. Techniques of gene therapy are advancing to the point that they may become feasible options for patients with CMT and other neurodegenerative diseases...- T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathyMichael E Shy
Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201, USA
Ann Neurol 59:358-64. 2006..To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism... - Peripheral neuropathies caused by mutations in the myelin protein zeroMichael E Shy
Wayne State University, Department of Neurology, 421 Ea Canfield, Elliman Bldg 3206, Detroit, MI 48201, USA
J Neurol Sci 242:55-66. 2006..Identifying molecular pathways involved in early and late onset CMT1B will be crucial to understand how MPZ mutations cause CMT1B so that rational therapies for both early and late onset neuropathies can be developed... - Reliability and validity of the CMT neuropathy score as a measure of disabilityM E Shy
Department of Neurology, Wayne State University, Detroit, MI 48201, USA
Neurology 64:1209-14. 2005..To determine the validity and reliability of the Charcot-Marie-Tooth disease (CMT) neuropathy score (CMTNS) in patients with inherited neuropathy... - Charcot-Marie-Tooth disease: an updateMichael E Shy
Department of Neurology, Wayne State University, School of Medicine, Detroit, Michigan 48201, USA
Curr Opin Neurol 17:579-85. 2004..Currently, mutations in multiple different genes expressed in Schwann cells and neurons cause a variety of overlapping clinical phenotypes... - CMT1X phenotypes represent loss of GJB1 gene functionM E Shy
Department of Neurology, Wayne State University, 421 E Canfield, Detroit, MI 48201, USA
Neurology 68:849-55. 2007..To investigate possible genotype-phenotype correlations and to evaluate the natural history of patients with Charcot-Marie-Tooth disease type 1X (CMT1X)... - Phenotypic clustering in MPZ mutationsMichael E Shy
Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
Brain 127:371-84. 2004..In contrast, late onset neuropathy is caused by mutations that more subtly alter myelin structure and which probably disrupt Schwann cell-axonal interactions... - Neuropathy progression in Charcot-Marie-Tooth disease type 1AM E Shy
Wayne State University, Department of Neurology, Center for Molecular Medicine and Genetics, 421 Ea Canfield, Detroit, MI 48201, USA
Neurology 70:378-83. 2008..To determine the rate of disease progression in Charcot-Marie-Tooth disease type 1A (CMT1A)... - Hereditary motor and sensory neuropathies: a biological perspectiveMichael E Shy
Department of Neurology and The Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
Lancet Neurol 1:110-8. 2002.... - Biology of peripheral inherited neuropathies: Schwann cell axonal interactionsMichael E Shy
Department of Neurology, Wayne State University School of Medicine, Detroit, MI, USA
Adv Exp Med Biol 652:171-81. 2009..Understanding the molecular basis of Schwann cell-axonal interactions will not only increase the understanding of PNS biology but also identify therapeutic targets for inherited neuropathies... - Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapyJ Kamholz
Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
Brain 123:222-33. 2000..In this review we discuss the molecular pathogenesis of CMT1, as well as approaches to an effective gene therapy for this disease... - Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesisW Xu
Department of Neurology and The Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan, USA
J Neurosci Res 60:714-24. 2000..Taken together, these results demonstrate that P0 is involved, either directly or indirectly, in the regulation of both myelin gene expression and myelin morphogenesis... - MFN2 mutations cause severe phenotypes in most patients with CMT2AS M E Feely
Department of Neurology, Wayne State University, 421 Ea Canfield, Detroit, MI 48201, USA
Neurology 76:1690-6. 2011..Published CMT2A phenotypes have differed widely in severity... - Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1BA Sabet
Department of Neurology, University of Kentucky, Lexington, KY 40536, USA
Neurology 67:1141-6. 2006..To demonstrate that intronic mutations in the myelin protein zero (MPZ) cause Charcot-Marie-Tooth neuropathy 1B (CMT1B) by disrupting MPZ splicing... - PMP22 expression in dermal nerve myelin from patients with CMT1AIstvan Katona
Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
Brain 132:1734-40. 2009..The extra copy of PMP22 in CMT1A results in disruption of the tightly regulated expression of PMP22. Thus, variability of PMP22 levels, rather than absolute level of PMP22, may play an important role in the pathogenesis of CMT1A... - Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1AMario A Saporta
Department of Neurology, Wayne State University, Detroit 48201, USA
Brain 132:3263-73. 2009..Intra-axonal accumulation of mitochondria provides new insights into the pathogenesis of axonal degeneration in Charcot-Marie-Tooth disease type 1A... - Conduction block in PMP22 deficiencyYunhong Bai
Department of Neurology, Wayne State University, Detroit, Michigan, USA
J Neurosci 30:600-8. 2010..Together, these results demonstrate that a function of Pmp22 is to protect the nerve from mechanical injury... - Strategy for genetic testing in Charcot-Marie-diseaseL J Miller
Department of Neurology Wayne State University School of Medicine, 421 Ea Canfield, Elliman 3217, Detroit, MI 48201, USA
Acta Myol 30:109-16. 2011..However, identifying the genetic cause of CMT can be expensive and confusing to patients and physicians due to locus heterogeneity... - Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathyMichael Stanton
Department of Neurology, University of Rochester Medical Center, Rochester, New York 14642, USA
Muscle Nerve 34:417-22. 2006.... - Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypesYunhong Bai
Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
Arch Neurol 63:1787-94. 2006..8 expression at the nodes may provide clues into the pathogenesis of this case of early-onset neuropathy, and the short internodes may contribute to the extremely slowed conduction velocities in this case (<10 m/s)... - Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathyMichael E Shy
Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA
Ann Neurol 53:354-65. 2003..These data demonstrate that expression of PLP1 but not DMSO is necessary to prevent neuropathy, and suggest that the 35 amino acid PLP1-specific domain plays an important role in normal peripheral nerve function... - Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsiesJun Li
Department of Neurology, Wayne State University, 4201 St Antoine St, UHC 8D, Detroit, MI 48201, USA
Arch Neurol 64:974-8. 2007..Whether any mutation within the coding region of the PMP22 gene ultimately causes HNPP by reducing the amount of peripheral myelin protein 22 (PMP22) expressed in myelin is also unknown... - Major myelin protein gene (P0) mutation causes a novel form of axonal degenerationJun Li
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
J Comp Neurol 498:252-65. 2006..This report represents the first study in which the molecular basis of axonal degeneration in the late-onset CMT1B has been explored in human tissue... - Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degenerationXuebao Zhang
Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
Brain 131:1990-2001. 2008..This study represents the first documentation of the natural history of CMT4J. Physical obstruction of organelle trafficking by vacuoles is a potential novel cellular mechanism of neurodegeneration... - Charcot-Marie-Tooth neuropathies: diagnosis and managementAgnes Jani-Acsadi
Department of Neurology, Wayne State University School of Medicine, 8A UHC, 4201 St Antoine, Detroit, MI 48201, USA
Semin Neurol 28:185-94. 2008..In this review, we provide practical insights on current diagnostic and therapeutic modalities and suggest future diagnostic and therapeutic directions... - Persistent CNS dysfunction in a boy with CMT1XCarly Siskind
Department of Neurology, Wayne State University, Detroit, MI 48201, USA
J Neurol Sci 279:109-13. 2009..Some GJB1 mutations have been reported to cause transient clinical CNS dysfunction. We report a boy with persistent CNS abnormalities possibly caused by CMT1X... - Asymmetric flaccid paralysis: a neuromuscular presentation of West Nile virus infectionJun Li
Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
Ann Neurol 53:703-10. 2003..It will be important for physicians to consider WNV infection in patients with acute asymmetric paralysis with or without encephalitic symptoms... - Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsiesJun Li
Department of Neurology, Wayne State University School of Medicine, 4201 St Antoine, UHC 8D, Detroit, Michigan 48201, USA
Muscle Nerve 29:205-10. 2004..These studies suggest that the function of PMP22, at least in part, is to stabilize myelin so that it will be protected from injuries resulting from repetitive, minor trauma... - Increased survival and function of SOD1 mice after glial cell-derived neurotrophic factor gene therapyGyula Acsadi
Department of Pediatrics, Center for Molecular Medicine and Genetics, Wayne State University, School of Medicine, 3901 Beaubien Road, Detroit, MI 48201, USA
Hum Gene Ther 13:1047-59. 2002..These results demonstrate that gene delivery to muscle and motor neurons has the potential to treat devastating neurodegenerative diseases such as ALS... - Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the nameJun Li
Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
Neurology 58:1769-73. 2002.... - Genetic testing in neuromuscular diseaseKaren M Krajewski
Wayne State University School of Medicine, Detroit, MI 48201, USA
Neurol Clin 22:481-508, v. 2004..Understanding testing methods,interpreting complex results, and dealing with the ethical, social,and personal issues that arise for patients and families is critical for their care... - Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammationJames Y Garbern
Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA
Brain 125:551-61. 2002..Disruption of PLP1-mediated axonal--glial interactions thus probably causes this axonal degeneration. A similar mechanism may be responsible for axonal degeneration and clinical disability that occur in patients with multiple sclerosis... - Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedsideJun Li
Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
Brain 128:1168-77. 2005..Taken together, our data suggest that skin biopsy may in certain circumstances replace the more invasive sural nerve biopsy in the morphological and molecular evaluation of inherited and other demyelinating neuropathies... - Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth diseaseRichard A Lewis
Department of Neurology, Wayne State University School of Medicine, 4201 St Antoine, Detroit, Michigan 48201, USA
Muscle Nerve 28:161-7. 2003..This study suggests that MUNE can assess motor unit loss in CMT and may better reflect axonal loss than CMAP amplitude. The STA technique of MUNE may be useful in longitudinal studies of proximal and distal motor unit changes in CMT... - A molecular basis for hereditary motor and sensory neuropathy disordersM E Shy
Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 421 East Canfield, Elliman Building 3206, Detroit, MI 48201, USA
Curr Neurol Neurosci Rep 1:77-88. 2001..Identifying these mechanisms will be important both for understanding demyelination and for developing future treatments for CMT... - Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP)M E Shy
Department of Neurology, Wayne State University, Detroit, Michigan 48201, USA
J Neuropathol Exp Neurol 56:811-21. 1997..These data suggest that immune-mediated mechanisms may contribute to the pathogenesis of the neuropathy in P0+/- mice... - Diabetes mellitus exacerbates motor and sensory impairment in CMT1ASoham Sheth
Department of Neurology, Wayne State University, Detroit, MI 48201, USA
J Peripher Nerv Syst 13:299-304. 2008..Diabetes was associated with more severe motor and sensory impairment in patients with CMT1A... - Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosisR A Lewis
Department of Neurology, Wayne State University School of Medicine, UHC 8D, 4201 St Antoine, Detroit, Michigan, USA
Muscle Nerve 23:1472-87. 2000.... - Women and men are equally disabled by Charcot-Marie-Tooth disease type 1AEmily R Swan
Department of Neurology, Wayne State University, Detroit, MI 48201, USA
Neurology 68:873. 2007 - Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth diseaseHenry L Paulson
Department of Neurology, University of Iowa, Iowa City, IA, USA
Ann Neurol 52:429-34. 2002.... - MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2Kristien Verhoeven
Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen, Belgium
Brain 129:2093-102. 2006..In patients with a documented family history of CMT2 the frequency of MFN2 mutations was 33% indicating that MFN2 mutations are a major cause in this population... - Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1ALuca Padua
Institute of Neurology, Universita Cattolica del Sacro Cuore, Rome, Italy
J Peripher Nerv Syst 13:64-70. 2008..Both the PCS and MCS were abnormal also in this cohort, compared with the Italian population at large. In particular, the ability to ambulate independently as well as toe and heel walk correlated well with QoL measures in our patients... - SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradationGulam Mustafa Saifi
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Hum Mutat 25:372-83. 2005..Thus the potential E3 ubiquitin ligase activity of SIMPLE, alteration in its interactions with NEDD4 or TSG101, or changes in its properties as a clathrin coat adaptor may underlie the pathogenesis of Charcot-Marie-Tooth disease... - GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondriaLaia Pedrola
Laboratory of Genetics and Molecular Medicine, Department of Genomics and Proteomics, Instituto de Biomedicina, CSIC, Valencia, Spain
Hum Mol Genet 14:1087-94. 2005..We postulate that GDAP1 may be related to the maintenance of the mitochondrial network... - Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ geneJohn Kamholz
Neurology 63:194; author reply 194. 2004 - Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutationsMarina Grandis
Department of Neurosciences, Ophthalmology and Genetics, Universityof Genova, 16132 Genova, Italy
Hum Mol Genet 17:1877-89. 2008..Further characterization of these pathways will lead to a better understanding of the pathogenesis of CMT1B and a rational basis for treating these debilitating inherited neuropathies... - Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4JClement Y Chow
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA
Nature 448:68-72. 2007..This novel form of autosomal recessive Charcot-Marie-Tooth disorder is designated CMT4J... - Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)Hee Jin Kim
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam Gu, Seoul, Korea
Am J Hum Genet 81:552-8. 2007.... - Charcot-Marie-Tooth disease impairs quality of life: why? And how do we improve it?Michael E Shy
Neurology 65:790-1. 2005 - Obstructive sleep apnoea and CMT1A: answers and more questionsMichael E Shy
J Neurol Neurosurg Psychiatry 79:743-4. 2008 - Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth diseaseLoutfi S Aboussouan
Department of Pulmonary and Critical Care Medicine, Cleveland Clinic Foundation, 26900 Cedar Road, Suite 325 S, Beachwood, OH 44122, USA
Lung 185:1-7. 2007..The risk of progression to bilateral vocal cord dysfunction in CMT and the risk of aspiration with laryngeal neuropathy may limit the therapeutic options available for vocal cord paralysis...