2006, Number 5
<< Back Next >>
Rev Mex Neuroci 2006; 7 (5)
Spinocerebellar ataxia type 2. Hypoglosal nerve conduction studies
Medrano MJ, Velásquez PL, Canales ON
Language: Spanish
References: 34
Page: 380-384
PDF size: 81.73 Kb.
ABSTRACT
Introduction: Spinocerebellar Ataxia type 2 have de highest prevalence in the world in Holguín (Cuba). Is caused by a CAG repeated expansions in SCA2 gene and distinguished for cerebellar syndrome with depressed tendon reflexes, poor coordination of sacadic eye movements, speech and deglution. The aim of these study is to determine functional state of hypoglosal nerve in SCA2 patients using motor nerve conduction studies.
Patients and methods: First we determine the CAG repeat expansion in 43 SCA2 illnes patients, them made electrophysiological studies (motor nerve conduction studies) in these patients and in 100 healthy subjects used as control group.
Results: There were latency and duration prolongation of the motor potential in illnes patients respect control group (p = 0.001 y 0.011, respectively) that evidence a myelinic damage in XII par fibers in SCA2 patients.
REFERENCES
Herrera D. La lengua sus implicaciones en la salud bucal. Cendayola. España: Ed. Dentaed; 1998.
Mayoral J, Mayoral G. Principios fundamentales y práctica. La Habana: Ed. Científico-Técnica; 1986.
Lowe AA. Neural control of tongue posture. In: Taylor A (ed.). Neurophysiology of the jaws and teeth. London: Ed. Mc Millan Press Ltd; 1990, p. 322-68.
Lowe AA, Fleetham JA, Adachi S, Ryan F. Cephalometric and computed tomographic predictors of obstructive sleep apnea severity. Am J Orthod Dentofac Orthop 1991.
Pae EK, Lowe AA, Sasaki K, Price C, Tsuchiya M, Fleetham JA. A cephalometric and electromyographic study of upper airway structures in the upright and supine position. Am J Orthod Dentofac Orthop; 1991.
Adachi S, Lowe AA, Ryan CF, Fleetham JA. Genioglossus muscle activity and inspiratory timing in obstructive sleep apnea. Amer J Orthod Dentofac Orthop 1991.
Lowe AA, Bookstein FL, Fleetham JA. Airway/Tongue interactions in obstructive sleep apnea. In: The biological mechanisms of tooth movement and craneofacial adaptation. Ohio: Ed. Davidovich; 1992, p. 513-22.
Lowe AA, Fleetham JA. Two and three dimensional analyses of tongue, airway, and softh palate size. In: Norton ML, Brown AC (eds.). Atlas of the difficult airway. Ed. Mosby Year Book; 1991, p. 74-82.
Lowe AA, Fleetham JA, Ryan CF, Mathews B. Effects of mandibular repositioning apliance used int he treatment of obstructive sleep apnea on tongue muscle activity. In: Issa FG, Suratt PM, Remmers JE (eds.). Sleep and respiration. New York: Ed. Wiley-Liss; 1990, p. 395-405.
De Almeida F, Bettancour LR, de Almeida CI, Tsuild S, Lowe AA, Tufir S. Effects of mandibular posture on obstructive sleep apnea and severity and the temporomandibular joints in patients fitted with oral appliance. Arch Phys Med Rehabil 1998; 79(9): 1051-8.
Pae EK, Lowe AA, Fleetham JA. Shape of the face and tongue in obstructive sleep apnea patients- statistical analysis of cordinate data. Arch Oral Biol 1999; 44(8): 657-64.
Kryger MH. Diagnosis and management of sleep apnea syndrome http://health.medscape.com/cx/viewarticle/401038.2002
Gender: Sleep Apnea. http://health.medscape.com/cx/viewarticle/151095.2002
Bird TD. Hereditary ataxia overview. www.geneclinics.org/servlet/access?id =8888890
Velázquez PL, Santos FN, García R, Paneque HM, Hechevarria PR. Epidemiología de la ataxia hereditaria cubana. Rev Neurol 2001; 32(7): 606-11.
Velázquez PL, Medina EE. Características electrofisiológicas en familias asintomáticas de enfermos con ataxias espinocerebelosa tipo 2. Rev Neurol 1998; 27(160): 1369-75.
Velázquez PL, Orozco DG. Ataxia cerebelosa dominante cubana. Estudios de conducción de nervios periféricos en pacientes asintomáticos. Medicina 1999; 59(1): 63-6.
Velázquez PL, de la Hoz OJ, Pérez GR, Echevarría PR, Herrera DH. Evaluación cuantitativa de los trastornos de la coordinación en pacientes con ataxia espinocerebelosa tipo 2 cubana. Rev Neurol 2001; 32(7): 601-6.
Grewal RP, Tayag E, Figueroa KP, Zu L, Durazo A, Nuñez C, et al. Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia. Neurology 1998; 51(5): 3-6.
Arrude WO, Teive HA. Hereditary cerebellar ataxias from hammer to genetics. Arq Neuropsiquiatr 1977; 55(38): 666-76.
Nechiporuk A, Lopes CI, Nechiporuk T, Starkman S, Andermann E, Rouleau GA, et al. Genetic mapping of the spinocerebellar ataxia type 2 gene of human chromosome 12. Neurology 1996; 46(6).
Devos D, Schraen MS, Vuillaume I, Dujardin K, Naze P, Willoteauxe, et al. Clinical features and genetic analysis of a new form of spinocerebellar ataxia. Neurology 2001; 56: 234-8.
Klockgether T, Suhlke C, Schulz JB, Burk K, Fetter M, Dittmann H, et al. Friedreich’s ataxia with retainet tendon reflexes: molecular genetics, clinical neurophysiology, and magnetic resonance imagen. Neurology 1996; 46(1): 118-21.
Tan E, Ashizawa T. Genetic testing in spinocerebellar ataxias. Defining Clinical Role. Arch Neurol 2001; 58: 191-6.
Mayo CD, Hernández CJ, Cantarero DS, Martinez DB, Uriosbe AM, Robledo BM, et al. Distribution of dominant hereditary ataxias and Friedreich´s ataxia in the Spanish population. Med Clin (Barce) 2000; 115(4): 21-5.
Kulkarni PK, Muthane UB, Taly AB, Jayakumar PN, Shetty R, Swamy HS. Palatal tremor, progressive multiple cranial palsies, and cerebellar ataxia: a case report and review of literature of palatal tremors in neurodegenerative disease. Mov Disord 1999; 14(4): 689-93.
Aminoff MJ. Electrophysiology. In: Goetz (ed.). Textbook of clinical neurology. New York: Ed. Saunders; 1999, p. 436-56.
Santos AC. El ABC de la electroneuromiografía clínica. La Habana: Ed. Ciencias Medicas; 2003, p. 99-160.
Orozco DG, Nodarse FA, Cordoves R, Aurburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneus population in Holguin. Cuba. Neurology 1990; 40(90): 1369-75.
Feldman EL. Degenerative diseases of the nervous System. Introduction. In: Goldman (ed.). Cecil textbook of medicine. USA: Ed. WB Saunders; 2000, p. 465.
Mohit H, Bhalt Richard F, Donad B. Chronic Cerebellar Degeneration. In: Kelley WN (ed.). Textbook of internal medicine. New York: Ed. Lippincott Company; 1992, p. 2176-7.
Burk K, Klockgether T, Dichgans J. New insights in the molecular genetics and pathophysiology of hereditary ataxias. Nervenarzt 1999; 70(6): 491-5.
Shols L, Peters S, Seymanski S, Krogel R, Lange S. Extrapiramidal motor signs in degenerative ataxias. Arch Neurol 2000; 57: 1495-500.
Kimura J. Electrodiagnosis in diseases of Nerve and Muscle: Principles and Practice. Philadelphia: Ed. FA Davis; 1989.