Disease course of Charcot-Marie-Tooth disease type 2: A 5-year follow-up study

Archives of Neurology

Volumn 60, Issue 6, 2003, Pages 823-828

  Teunissen, Laurien L ^a   Notermans, Nicolette C ^a   Franssen, Hessel ^b   Van Engelen, Baziel G M ^c   Baas, Frank ^d   Wokke, John H J ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL TRIAL; DISABILITY; DISEASE COURSE; DISEASE DURATION; FEMALE; FOOT MALFORMATION; GENE; GENE MUTATION; GJB1 GENE; HEALTH SURVEY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INJURY SCALE; MALE; MPZ GENE; MUSCLE STRENGTH; PMP22 GENE; PRIORITY JOURNAL; QUALITY OF LIFE; QUESTIONNAIRE; SENSORY DYSFUNCTION; WALKING AID;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYELIN PROTEINS; NEURAL CONDUCTION; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; PROSPECTIVE STUDIES; QUALITY OF LIFE; QUESTIONNAIRES;

EID: 0037782429     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.60.6.823     Document Type: Article

References (37)

1. Ben Othmane K, Middleton LT, Loprest LJ, Wilkinson KM, Lennon F, Rozear MP. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1 p and evidence of genetic heterogeneity. Genomics. 1993;17:370-375.
2. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain. 1980;103:259-280.
3. Behse F, Buchthal F. Peroneal muscular atrophy (PMA) and related disorders, II: histological findings in sural nerves. Brain. 1977;100:67-85.
4. Timmerman V, De Jonghe P, Spoelders P, et al. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. Neurology. 1996;46:1311-1318.
5. Buchthal F, Behse F. Peroneal muscular atrophy (PMA) and related disorders, I: clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain. 1977;100:41-66.
6. De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM. Homozygous defects in LMNA, encoding lamin A/C nuclear envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet. 2002;70:726-736.
7. Leal A, Morera B, Del Valle G, et al. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. Am J Hum Genet. 2001;68:269-274.
8. Barhoumi C, Amouri R, Ben Hamida C, Ben Hamida M. Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromuscul Disord. 2001;11:27-34.
9. Bouhouche A, Benomar A, Birouli W, et al. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. Am J Hum Genet. 1999;65:722-727.
10. Harding AE, Thomas PK. Autosomal recessive forms of hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry. 1980;43:669-678.
11. Vance JM. The many faces of Charcot-Marie-Tooth disease. Arch Neurol. 2000; 57:638-640.
12. Senderek J, Bergmann C, Quasthoff S, Ramaekers VT, Schroder JM. X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22GIn). Acta Neuropathol. 1998;95:443-449.
13. Nicholson G, Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology. 1993;43:2558-2564.
14. Reilly MM. Classification of the hereditary motor and sensory neuropathies. Curr Opin Neurol. 2999;13:561-564.
15. Mersiyanova IV, Perepelov AV, Polyakov AV, et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet. 2000;67:37-46.
16. Zhao C, Takita J, Tanaka Y. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1 Bb. Cell. 2001;105:587-597.
17. Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology. 1998;50:1397-1401.
18. De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain. 1999;122:281-290.
19. Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry. 1999;66:779-782.
20. Misu K, Yoshihara T, Shikama Y, Awaki E. An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). J Neurol Neurosurg Psychiatry. 2000;69:806-811.
21. Carter GT, Abresch RT, Fowler WM, Johnson ER, Kilmer DD, McDonald CM. Profiles of neuromuscular diseases: hereditary motor and sensory neuropathy, types I and II. Am J Phys Med Rehabil. 1995;749(suppl):S149-S149.
22. Lindeman E, Leffers P, Spaans F, Drukker J, Reulen J. Deterioration of motor function in myotonic dystrophy and hereditary motor and sensory neuropathy. Scand J Rehabil Med. 1995;27:59-64.
23. Teunissen LL, Notermans NC, Franssen H, et al. Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy: a clinical and electrophysiological study. Brain. 1997;120:955-962.
24. Notermans NC, Wokke JH, Franssen H, et al. Chronic idiopathic polyneuropathy presenting in middle or old age: a clinical and electrophysiological study of 75 patients. J Neurol Neurosurg Psychiatry. 1993;56:1066-1071.
25. Medical Research Council. Aids to the Examination of the Peripheral Nervous System. London, England: Her Majesty's Stationary Office; 1976.
26. Notermans NC, van Dijk GW, van der Graaf Y, van Gijn J, Wokke JH. Measuring ataxia: quantification based on the standard neurological examination. J Neurol Neurosurg Psychiatry. 1994;57:22-26.
27. Halonen P. Quantitative vibration perception thresholds in healthy subjects of working age. Appl Physiol Occup Physiol. 1986;54:647-655.
28. Goldberg JM, Lindblom W. Standardised method of determining vibratory perception thresholds for diagnosis and screening in neurological investigation. J Neurol Neurosurg Psychiatry. 1979;42:793-803.
29. Bamford JM, Sandercock PAG, Warlow CP, Slattery J. Interobserver agreement for the assessment of handicap in stroke patients [letter]. Stroke. 1989;20:828.
30. Teunissen LL, Notermans NC, Jansen GH, Banga JD, Veldman H, Wokke JHJ. Thickness of endoneurial vessel basement membrane in chronic idiopathic axonal polyneuropathy. Acta Neuropathol. 2000;100:445-450.
31. Ware JE Jr, Sherbourne CD. The MOS-36-item short-form health survey (SF-36), I: conceptual framework and item selection. Med Care. 1992;30:473-483.
32. van der Zee KI, Sanderman R, Heyink J. Het Meten Van De Algemene Gezondheidstoestand Met de RAND-36. Een handleiding. Groningen, the Netherlands: Noordelijk Centrum Voor Gezondheidsvraagstukken; 1985.
33. Franssen H, Wieneke GH. Nerve conduction and temperature: necessary warming time. Muscle Nerve. 1994;17:336-344.
34. Kimura J. Electrodiagnosis in Diseases of nerve and Muscle: Principles and practice. 2nd ed. Philadelphia, Pa: FA Davis; 1989:103.
35. Dyck PJ, Prineas JW, Pollard JD. Chronic inflammatory demyelinating polyradiculopathy. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral Neuropathy. 3rd ed. Philadelphia, Pa: WB Saunders; 1993:1498-1517.
36. Hayasaka K, Takada G, Ionasescu W. Mutation of the myelin PO gene in Charcot-Marie-Tooth neuropathy type 1B. Hum Mol Genet 1993;2:1369-1372.
37. MacMillan JC, Harper PS. The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UK. Clin Genet. 1994;45:128-134.