Prevalence of symptomatic charcot-Marie-Tooth disease in Iceland: A study of a well-defined population

Neuroepidemiology

Volumn 34, Issue 1, 2010, Pages 13-17

  Gumundsson, Bjarni ^b   Ólafsson, Elías ^a,b   Jakobsson, Finnbogi ^a,b   Lúvígsson, Pétur ^a,b  

^a UNIVERSITY OF ICELAND   (Iceland)

^b LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

Author keywords

Charcot Marie Tooth disease, prevalence; Iceland; Polyneuropathy

Indexed keywords

DNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DNA DETERMINATION; FEMALE; FOOT MALFORMATION; GAIT DISORDER; HAMMER TOE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; ICELAND; INFANT; LIMB WEAKNESS; MALE; NEUROPHYSIOLOGY; POLYNEUROPATHY; POPULATION; PRESCHOOL CHILD; PREVALENCE; SCHOOL CHILD; TENDON REFLEX;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; FAMILY; FEMALE; HUMANS; ICELAND; MALE; MIDDLE AGED; PREVALENCE; YOUNG ADULT;

EID: 70350678523     PISSN: 02515350     EISSN: None     Source Type: Journal    
DOI: 10.1159/000255461     Document Type: Article

References (21)

1. Harding AE, Thomas PK: The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980; 103: 259-280.
2. Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ: Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features; in Dyck PJ, Thomas PK (eds): Peripheral Neuropathy, ed 3. Philadelphia, Elsevier Saunders, 2005, vol 2, p 1624.
3. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, Van Broeckhoven C: Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1991; 1: 93-97.
4. Lupski JR, Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo- Cardenas O, Barker DF, Killian JM, Garcia CA: DNA duplication associated with Charcot- Marie-Tooth disease type 1A. Cell 1991; 66: 219-232.
5. Inherited Peripheral Neuropathies Mutation Database. http://www.molgen. ua.ac. be/CMTMutations/Home/Default.cfm (accessed February 5, 2009).
6. Skre H: Genetic and clinical aspects of Charcot- Marie-Tooth's disease. Clin Genet 1974; 6: 98-118.
7. Davis CJ, Bradley WG, Madrid R: The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. 1. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 1978; 26: 311-349.
8. Morocutti C, Colazza GB, Soldati G: Charcot- Marie-Tooth disease in Molise, a centralsouthern region of Italy: an epidemiological study. Neuroepidemiology 2002; 21: 241-245.
9. Kurihara S, Adachi Y, Nakashima K: An epidemiological genetic study of Charcot-Marie- Tooth disease in western Japan. Neuroepidemiology 2002; 21: 246-250.
10. Radhakrishnan K, el-Mangoush MA, Gerryo SE: Descriptive epidemiology of selected neuromuscular disorders in Benghazi, Libya. Acta Neurol Scand 1987; 75: 95-100.
11. Combarros O, Calleja J, Polo JM, Berciano J: Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol Scand 1987; 75: 9-12.
12. Holmberg BH: Charcot-Marie-Tooth disease in northern Sweden: an epidemiological and clinical study. Acta Neurol Scand 1993; 87: 416-422.
13. MacMillian JC, Harper PS: The Charcot- Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UK. Clin Genet 1994; 45: 128-134.
14. Brooks AP, Emery AE: A family study of Charcot-Marie-Tooth disease. J Med Genet 1982; 19: 88-93.
15. Harding AE, Thomas PK: Hereditary distal spinal muscular atrophy: a report on 34 cases and a review of the literature. J Neurol Sci 1980; 45: 337-348.
16. Statistics Iceland. http://www.statice.is/ (accessed June 1, 2009).
17. WHO standard population. http://www. who.int/ (accessed June 24, 2009).
18. Zuchner S, Mersiyanova IV, Muglia M, Bissar- Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, de Jonghe P, Takahashi Y, Tsuji S, Paricak-Vance MA, Quattrone A, Battologlu E, Polyakov AV, Timmerman V, Schroder JM, Vance JM: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004; 36: 449-451.
19. Gudmundsson KR: Prevalence and occurrence of some rare neurological diseases in Iceland. Acta Neurol Scand 1969; 45: 114-119.
20. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR: Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002; 51: 190-201.
21. Dyck PJ, Karnes JL, Windebank AJ, Sparks M, Clarkestevens J, O'Brien PC: Minimal pathological expression of a mutant gene for hereditary motor and sensory neuropathy. Mayo Clin Proc 1983; 58: 419-425.