Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease |
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| Authors: | Dubourg O Azzedine H Verny C Durosier G Birouk N Gouider R Salih M Bouhouche A Thiam A Grid D Mayer M Ruberg M Tazir M Brice A LeGuern E |
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| Affiliation: | (1) INSERM U679 (ex U289), la Pitié-Salpêtrière Hospital, Paris, France;(2) Centre de référence sur les Pathologies Neuromusculaires Paris-Est, Institute of Myology, la Pitié-Salpêtrière Hospital, AP-HP, Paris, France;(3) Laboratory of Neuropathology Escourolle, la Pitié-Salpêtrière Hospital, AP-HP, Paris, France;(4) Service of neurology, CHU of Angers, France;(5) Laboratory of Clinical Neurophysiology, Hospital of Specialties, Rabat, Morocco;(6) Service of Neurology, Razi Hospital, Tunis, Tunisia;(7) Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia;(8) Laboratory of Neurogenetics, Hospital of specialties, Rabat, Morocco;(9) Service of neurology, CHU of Dakar, Senegal;(10) AFM-Généthon Paris, France;(11) Service of Pediatric Neurology, Trousseau Hospital, Paris, France;(12) Department of Neurology and Neurogenetics, CHU Mustapha, Algiers, Algeria;(13) Laboratory of Neurogenetics, Department of Genetics, Cytogenetics and Embryology, la Pitié-Salpêtrière Hospital, AP-HP, Paris, France |
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| Abstract: | Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families in the European CMT population but are more frequent in the Mediterranean basin and the Middle East because of more widespread consanguinity. Until now, demyelinating ARCMT was more extensively studied at the genetic level than the axonal form. Since 1999, the number of localized or identified genes responsible for demyelinating ARCMT has greatly increased. Eight genes, EGR2, GDAP1, KIAA1985, MTMR2, MTMR13, NDRG1, PRX, and CTDP1, have been identified and two new loci mapped to chromosomes 10q23 and 12p11-q13. In this review, we will focus on the particular clinical and/or neuropathological features of the phenotype caused by mutations in each of these genes, which might guide molecular diagnosis. |
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| Keywords: | ARCMT demyelinating CMT axonal CMT consanguinity |
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