CMT1A duplication: Refining the minimal adult phenotype: Letter to the editor

Journal of the Peripheral Nervous System

Volumn 13, Issue 4, 2008, Pages 310-312

  Berciano, José ^a   Gallardo, Elena ^a   García, Antonio ^a   Ramón, Céser ^a   Mateo, Ignacio ^a   Infante, Jon ^a   Rodríguez Rodríguez, Eloy ^a   Combarros, Onofre ^a  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CHROMOSOME 17; FOOT MALFORMATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LETTER; MOTOR NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PES CAVUS; PHENOTYPE; PRIORITY JOURNAL;

ACTION POTENTIALS; CHARCOT-MARIE-TOOTH DISEASE; ELECTROPHYSIOLOGY; FEMALE; FOOT; FOOT DEFORMITIES; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; PHENOTYPE;

EID: 58449103365     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2008.00199.x     Document Type: Letter

References (17)

1. Berciano J, García A, Combarros O (2003). Initial semeiology in children with Charcot-Marie-Tooth disease. Muscle Nerve 27 : 34 39.
2. Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P (1997). Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120 : 813 823.
3. Brewerton DA, Sandifer PH, Sweetnam DR (1963). "Idiopathic" pes cavus. An investigation into its aetiology. Br Med J 2 : 659 661.
4. Fabrizi GM, Simonati A, Morbin M, Cavallaro T, Taioli F, Benedetti MD, Edomi P, Rizzuto N (1998). Clinical and electrophysiological correlations in Charcot-Marie-Tooth neuropathy type 17p11.2-p12 duplication: a cross-sectional morphometric and immunohistochemical study in 20 cases. Muscle Nerve 21 : 869 877.
5. Gallardo E, García A, Combarros O, Berciano J (2006). Charcot-Marie-Tooth type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain 129 : 426 437.
6. García A, Combarros O, Calleja J, Berciano J (1998). Charcot-Marie-Tooth disease type 1A with 17p duplication in early infancy and childhood. A longitudinal clinical and electrophysiological study. Neurology 50 : 1061 1067.
7. Harding AE, Thomas PK (1980). The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103 : 259 280.
8. Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G Study Group for Hereditary Neuropathy in Japan (2003). Demyelinating and axonal forms of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 126 : 134 151.
9. Hoogendijk J, de Visser M, Bolhuis PA, Hart AAM, Ongerboer de Visser BM (1994). Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype. Muscle Nerve 17 : 85 90.
10. Kaku DA, Parry GJ, Malamut R, Lupski JR, García CA (1993). Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology 43 : 1806 1808.
11. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME (2000). Neuronal dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 123 : 1516 1527.
12. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991). DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66 : 219 232.
13. Marques W Jr., Freitas MR, Nascimento OJ, Oliveira AB, Calia L, Melo A, Lucena R, Rocha V, Barreira AA (2005). 17p duplicated Charcot-Marie-Tooth 1A. Characteristics of a new population. J Neurol 252 : 972 979.
14. 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, The HMSN Collaborative Research Group (1991). Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type Ia (CMT Ia). Neuromuscul Disord 1 : 93 97.
15. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M (2005). Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 64 : 1209 1214.
16. Thomas PK, Marques W Jr., Davis MB, Sweeney MG, King RH, Bradley JL, Muddle JR, Tyson J, Malcolm S, Harding AE (1997). The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 120 : 465 478.
17. Verhamme C, van Schaik IN, Koelman JHTM, de Haan RJ, Vermeulen M, de Visser M (2004). Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia. J Neurol 251 : 1491 1497.