The electrophysiological profile of hereditary motor and sensory neuropathy-Lom

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 76, Issue 6, 2005, Pages 875-878

  Ishpekova, B A ^a   Christova, L G ^b   Alexandrov, A S ^b   Thomas, P K ^c  

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b BULGARIAN ACADEMY OF SCIENCES   (Bulgaria)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACTION POTENTIAL; ADOLESCENT; ADULT; ARTICLE; AXILLARY NERVE; BULBAR PARALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; DEMYELINATING NEUROPATHY; DISEASE COURSE; DISEASE SEVERITY; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; FACIAL NERVE; FEMALE; GAIT DISORDER; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPOGLOSSAL NERVE; LATENT PERIOD; LIMB DISEASE; MALE; MOTOR NERVE CONDUCTION; MUSCLE WEAKNESS; MUSCULOSKELETAL NERVE; ONSET AGE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 20444399199     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2004.040030     Document Type: Article

References (25)

1. Kuhlenbaumer G, Young P, Hunermund G, Ringelstein B, Stogbauer F. Clinical features and molecular genetics of hereditary peripheral neuropathies. J Neurol 2002;249:1629-50.
2. Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, et al. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet 1996;14:214-17.
3. Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, et al. Hereditary motor and sensory neuropathy-Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain 1998;121:399-408.
4. Merlini L, Villanova M, Sabatelli P, Trogu A, Malandrini A, Yanakiev P, et al. Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family. Neuromuscul Disord 1998;8:182-5.
5. Colomer J, Iturriaga C, Kalaydjieva L, Angelicheva D, King RH, Thomas PK. Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies. Neuromuscul Disord 2000;10:578-83.
6. Butinar D, Zidar J, Leonardis L, Popovic M, Kalaydjieva L, Angelicheva D, et al. Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred. Ann Neurol 1999;46:36-44.
7. Leonardis L, Zidar J, Popavic M, Timmerman V, Lofgren A, Van Broeckhoven C, et al. Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family. Pflugers Arch 2000;439(3 suppl):R208-10.
8. Baethmann M, Gohlich-Ratmann G, Schroder JM, Kalaydjieva L, Voit T. HMSNL in a 13-year-old Bulgarian girl. Neuromuscul Disord 1998;8:90-4.
9. Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, et al. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 2000;67:47-58.
10. Gassel MM. A test of nerve conduction to muscles of the shoulder girdle as an aid in the diagnosis of proximal neurogenic and muscular disease. J Neurol Neurosurg Psychiatry 1964;27:200-5.
11. Cohen HL, Brumlik J. Manual of electroneuromyography. New York: Harper and Row, 1968.
12. Ishpekova B, Baykushev S. A method of n. hypoglossus conductivity measurement. Folia Medica 1982;24:39-43.
13. Dengler R, Kossev A, Gippner C, Struppler A. Quantitative analysis of blink reflexes in patients with hemiplegic disorders. Electroencephalogr Clin Neurophysiol 1982;53:513-24.
14. Kossev A, Dengler R, Struppler A. Quantitative assessment of the blink reflex in normals physiological side-to-side differences and frequency-dependence. Electromyogr Clin Neurophysiol 1983;23:501-11.
15. Ellrich J, Hopf HC. The R3 component of the blink reflex: normative data and application in spinal lesions. Electroencephalogr Clin Neurophysiol 1996;101:349-54.
16. Thomas PK. Overview of Charcot-Marie-Toolh disease type 1A. Ann NY Acad Sci 1999;14:1-5.
17. Tomasulo RA. Aberrant conduction in human peripheral nerve: ephaptic transmission. Neurology 1982;32:712-19.
18. Bischoff C, Stalberg E, Falck B, Puksa L. Significance of A-waves recorded in routine motor nerve conduction studies. Electroencephalogr Clin Neurophysiol 1996;101:528-33.
19. Kostodinova SA. Peripheral late wave study in patients with discogenic radiculopathies. Electromyogr Clin Neurophysiol 1999;39:145-8.
20. Christova LG, Alexandrov AS, Ishpekova BA. Peripheral late waves in patients with hereditary motor sensory neuropathy. Electromyogr Clin Neurophysiol 1999;39:345-8.
21. Alexandrov AS, Christova LG, Ishpekova BA. A-waves in patients with novel hereditary motor and sensory neuropathy Lom. Acta Physiol Pharmacol Bulg 2001;26:55-8.
22. Rossi B, Risaliti R, Rossi A. The R3 component of the blink reflex in man: a reflex response induced by activation of high threshold cutaneous afferents. Electroencephologr Clin Neurophysiol 1989;73:334-40.
23. Ellrich J, Bromm B, Hopf HC. Pain-evoked blink reflex. Muscle Nerve 1997;20:265-70.
24. Esteban A. A neurophysiological approach to brainstem reflexes. Blink reflex. Neurophysiol Clin 1999;29:7-38.
25. Ellrich J, Katsarava Z, Przywara S, Kaube H. Is the R3 component of the human blink reflex nociceptive in origin? Pain 2001;91:389-95.