Neuromusclar Diseases and Clinical Neurogenetics Program
Clinical Services
The Department of Neurology at the University of Mississippi Medical Center has an active clinical program in the fields of neuromuscular disorders and neurogenetics. Our program is involved in the evaluation and management of patients with a variety of complex neuromuscular disorders as well as neurogenetic disorders, with emphasis on neuromuscular and cerebellar diseases. The attending neurologists are experienced in the evaluation and management of patients with diagnoses such as amyotrophic lateral sclerosis (Lou Gehrig's Disease), spinal muscular atrophy, peripheral polyneuropathy, including diabetic polyneuropathy, inflammatory polyneuropathies such as Guillain-Barre syndrome and chronic inflammatory demyelinating polyneuropathy (CIDP) muscle disorders such as polymyositis and dermatomyositis, muscular dystrophies, Charcot-Marie-Tooth disease and myasthenia gravis. We perform expert clinical evaluation of these patients followed by the necessary laboratory evaluations. There are board certified neurologists who bring expertise in the field of electromyography and clinical neurophysiology. In addition, we perform and evaluate muscle biopsies using specialized enzyme histochemistry, immunocytochemistry and electron microscopy, utilizing the services of a neuropathologist (Dr Jonathan Fratkin) as well as the expertise of the clinical faculty involved.The muscle pathology laboratory is fully capable of performing more recently described analyses for cytoskeletal proteins and arriving at precise diagnoses in difficult cases. We keep up to date information regarding genetic testing of many other neuromuscular disorders and ataxias. We maintain an active list of commercial laboratories that perform DNA tests and are able to have these tests performed in an expedited fashion. In addition, in selected instances, the division has been able to identify new genetic mutations in collaborative research projects with laboratories around the country.In addition to neuromuscular disorders, both genetic and nongenetic, members of our program are also interested in other genetically determined neurological disorders. In particular, we have interest in both clinical and research areas of inherited and degenerative cerebellar ataxias. Other neurogenetic disorders we care for include Huntington's disease and other genetically determined movement disorders. Such disorders are evaluated by clinical evaluations, balance laboratory testing, eye movement recording and appropriate DNA tests; and a genetic counselor and geneticist (MD) are available for counseling when needed. Finally, we offer predictive testing for persons at risk for selected disorders such as ataxia and Huntington's disease.
The patients with neuromuscular and neurogenetic disorders are seen both in the MDA-sponsored clinic at the Jackson Medical Mall as well as in the private Neuromuscular and Neurogenetic Clinics at the UMC Pavilion.
Research:
Clinical expertise is complemented by a very intense research effort. Research is focused on characterization of new gene defects in genetically-determined muscle disorders seen in Mississippi as well as the characterization of gene mutations and mechanism of disease in a variety of inherited cerebellar ataxias. There is strong collaboration between members of this program and other researchers with basic laboratory experience in the characterization of these diseases, both within the University of Mississippi Medical Center as well as nationally and internationally. In particular 2 research faculty have near full-time interests in diseases of interest to this division and maintain full time laboratories. (see below)
Current Research:
Clinical trial of IGF-1 in amyotrophic lateral sclerosis (multi-center trial sponsored by NIH and subcontracted through the Mayo Clinic (closed to recruitment) Clinical measures in Friedrech's ataxia (Multi-center study of natural history of FA, funded by MDA and Fridreich's research Alliance, FARA. Still open to recruitment. Needs one visit per year for non-invasive clinical assessment). Phenotypic characteristics of dominant ataxias (unfunded). Patients with SCA's of known and unknown gene types are invited to participate Biomarkers in inherited ataxias (funded by the Wilson Foundation) Colloboration with Dr Olga McDaniel, Department of Surgery. Clinical and laboratory evaluation of patients with neurogenetic diseases (unfunded) Mechanisms of ataxin-1 induced Purkinje cell degeneration (PI: Parminder Vig PhD, Professor of Neurology). This laboratory project is funded by National Institutes of Health IGF-1 as a treatment for SCA 1 (PI: Parminder Vig, PhD. Supported by endowments from the Luckyday foundation and grants from NIH) Cajal bodies and splicing machinery in a cell culture model of Machado-Joseph disease (PI: Michael Hebert PhD, Asst Professor of Biochemistry and Neurology). Supported by the Luckyday Foundation Enhancing frataxin gene expression in a cell culture model of Friedrech's ataxia (PI: Michael Hebert, PhD). Supported by Friedreich's Ataxia research Alliance, FARA). Functions of the SMN protein (PI: Michael Hebert PhD). Supported by the MDA
Participating Staff:
The following are members in this program:
S. H. Subramony, MD (Guyton Professor, Adult Neurology): Dr. Subramony is experienced in the clinical evaluation of neuromuscular disorders as well as neurogenetic disorders, in particular inherited cerebellar degenerations. He also has expertise in electromyography and muscle biopsy interpretations. He maintains a research interest in neurogenetic disorders, in particular inherited cerebellar degenerations and continues to maintain active collaborations for identifying new gene defects in patients with ataxias and neuromuscular disease. His research efforts have been kindly supported by endowments from the Luckyday Foundation and the Stangle Ataxia Research Fund)
Abelardo S. Wee, MD (Professor of Neurology, Adult Neurology). Dr. Wee has an active interest in evaluation of patients with neuromuscular disorders. In addition, he has expertise and interest in clinical neurophysiology and electromyography and does active research in the field of clinical electromyography as related to neuromuscular disorders. He also has expertise and equipment to perform state of the art autonomic function tests.
V. V. Vedanarayanan, MD (Professor of Neurology, Pediatric Neurology): Dr. Vedanarayanan has special interest in the evaluation and treatment of neuromuscular disorders, particularly in children. In addition, he performs muscle biopsies and has expertise in detailed interpretation of enzyme histochemical and immunocytochemical studies of muscle biopsies for diagnostic purposes. Dr. Vedanarayanan has a research interest in muscle disorders, particularly in Duchenne muscular dystrophy, critical care myopathy and facio-scapulohumeral dystrophy (FSH dystrophy) in which his collaborative efforts are clarifying mechanisms of disease.
Leigh Langford, CFNP (Instructor in Neurology, Nurse Practitioner, Adult Neurology). Ms. Langford has a major interest in the symptomatic and ongoing care of patients with neuromuscular disorders and inherited neurogenetic disorders. She has a clinic devoted to the ongoing care of patients with amyotrophic lateral sclerosis at the UMC Pavilion. She brings special expertise in the long-distance care of patients with such diseases, utilizing home based care programs.
Anita Green (RN): She coordinates many activities for the patients being evaluated in the Clinics and importantly, assures prompt communication.
Parminder Vig PhD.( Professor of Neurology and Biochemistry). Dr Vig runs an active laboratory studying a transgenic mouse model for SCA 1 and utilizes many techniques such as immunocytochemistry, PCR, behavioral equipment such as the rotarod. He is supported by the NIH.
Michael Hebert, PhD (Assistant Professor of Biochemistry and Neurology). Dr Hebert has an active research lab thatr utilizes cutting edge cell biology techniques to study Machado-Joseph disease, spinal muscular atrophy and Friedreich' ataxia. He is supported by the MDA and FARA.
Clinic Schedule:
Muscular Dystrophy Association Sponsored Clinic (MDA) meets on Tuesday mornings at 8.30 am in the Clinic 5 at Jackson Medical Mall.
Neuromuscular Clinics staffed by Drs. Subramony, Vedanarayanan or Ms Langford meet in the University Medical Pavilion, Ste. F, each week. At least one of the Neuromuscular faculty has a clinic at this location every day of the week except Tuesdays. The ALS clinic meets on Fridays from 10 am to 3 pm.
Neurogenetics Clinic meets on Fridays, 8 am to 4 pm every week
Selected recent publications
Mizutani A. Wang L. Rajan H. Vig PJ. Alaynick WA. Thaler JP. Tsai CC. Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. [Journal Article] EMBO Journal. 24(18):3339-51, 2005 Sep 21.
Escolar DM. Buyse G. Henricson E. Leshner R. Florence J. Mayhew J. Tesi-Rocha C. Gorni K. Pasquali L. Patel KM. McCarter R. Huang J. Mayhew T. Bertorini T. Carlo J. Connolly AM. Clemens PR. Goemans N. Iannaccone ST. Igarashi M. Nevo Y. Pestronk A. Subramony SH. Vedanarayanan VV. Wessel H. CINRG Group. CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy. Annals of Neurology. 58(1):151-5, 2005 Jul.
Dundr M. Hebert MD. Karpova TS. Stanek D. Xu H. Shpargel KB. Meier UT. Neugebauer KM. Matera AG. Misteli T. In vivo kinetics of Cajal body components. [Journal Article] Journal of Cell Biology. 164(6):831-42, 2004 Mar 15.
Vedanarayanan V. Sorey WH. Subramony SH. Tick paralysis. [Review] [19 refs] [Journal Article. Review. Review, Tutorial] Seminars in Neurology. 24(2):181-4, 2004 Jun.
Yang F. Shao C. Vedanarayanan V. Ehrlich M. Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy. [Journal Article] Chromosoma. 112(7):350-9, 2004 May.
Subramony SH. Schott K. Raike RS. Callahan J. Langford LR. Christova PS. Anderson JH. Gomez CM. Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. [Journal Article] Annals of Neurology. 54(6):725-31, 2003 Dec.
McDaniel DO. Barber WH. Nguyan C. Rhodes SW. May WL. McDaniel LS. Vig PJ. Jemeson LL. Butkus DE. Combined analysis of cytokine genotype polymorphism and the level of expression with allograft function in African-American renal transplant patients. [Journal Article] Transplant Immunology. 11(1):107-19, 2003 Jan-Mar.
Vedanarayanan VV. Mitochondrial disorders and ataxia. [Journal Article] Seminars in Pediatric Neurology. 10(3):200-9, 2003 Sep.
Gomez CM. Subramony SH. Dominantly inherited ataxias. [Review] [48 refs] [Journal Article. Review. Review, Tutorial] Seminars in Pediatric Neurology. 10(3):210-22, 2003 Sep.
Jiang G. Yang F. van Overveld PG. Vedanarayanan V. van der Maarel S. Ehrlich M. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. [Journal Article] Human Molecular Genetics. 12(22):2909-21, 2003 Nov 15.
Scacheri PC. Gillanders EM. Subramony SH. Vedanarayanan V. Crowe CA. Thakore N. Bingler M. Hoffman EP. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. [Journal Article] Neurology. 58(4):593-602, 2002 Feb 26.
Vig PJ. Subramony SH. McDaniel DO. Calcium homeostasis and spinocerebellar ataxia-1 (SCA-1). [Review] [71 refs] [Journal Article. Review] Brain Research Bulletin. 56(3-4):221-5, 2001 Oct-Nov 1.
Liu J. Hebert MD. Ye Y. Templeton DJ. Kung H. Matera AG. Cell cycle-dependent localization of the CDK2-cyclin E complex in Cajal (coiled) bodies. [Journal Article] Journal of Cell Science. 113 ( Pt 9):1543-52, 2000 May.
Vig PJ. Subramony SH. Qin Z. McDaniel DO. Fratkin JD. Relationship between ataxin-1 nuclear inclusions and Purkinje cell specific proteins in SCA-1 transgenic mice. [Journal Article] Journal of the Neurological Sciences. 174(2):100-10, 2000 Mar 15.
For referral of patients to the Pavilion Neuromuscular and Neurogenetic Clinics, you may contact the Department of Neurology Appointment Secretary at 601-984-5516.