Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A |
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| Authors: | Isabella Moroni Michela Morbin Micaela Milani Claudia Ciano Marianna Bugiani Emanuela Pagliano Tiziana Cavallaro Davide Pareyson Franco Taroni |
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| Institution: | 1. Department of Neurology, Hospital Clínico, Santiago de Compostela, Spain;2. Neurogenetics Research Group, Instituto de Investigaciones Sanitarias (IDIS), Santiago de Compostela, Spain;3. Fundación Pública Galega de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain;4. Institut de Recerca Sant Joan de Déu, CIBERER, Barcelona, Spain;5. Department of Genomics and Translational Genetics, Centro de Investigación Príncipe Felipe, Valencia, Spain;6. Unit for Genetics and Genomics of Neuromuscular and Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe, Valencia, Spain;7. Instituto de Biomedicina de Valencia (CSIC), CIBERER, Valencia, Spain;8. Department of Pathology, Hospital Universitario de Vigo, Spain;1. Greek Atomic Energy Commission (IRCL/GAEC-EIM), P.O.Box?60092, Agia Paraskevi, 15310 Attiki, Greece;2. Physikalisch-Technische Bundesanstalt (PTB), Bundesallee 100, 38116 Braunschweig, Germany;3. Vinca Institute of Nuclear Science, Radiation and Environmental Protection Laboratory (VINCA), University of Belgrade, P.O. Box?522, 11001 Belgrade, Serbia;4. International Atomic Energy Agency, (IAEA) PO Box?100, 1400 Vienna, Austria;5. Swedish Radiation Safety Authority (SSM), Solna strandväg 96, SE-171 16, Stockholm, Sweden;6. National Radiation Protection Institute (SURO), Batroskova 28, 140 00 Prague 4, Czech Republic;7. Metrology of Ionizing Radiation, National Center of Radiobiology and Radiation Protection (NCRRP), 3 St.Georgi Sofiiski st, 1606 Sofia, Bulgaria;8. Radiation and Nuclear Safety Authority (STUK), P.O.Box?14, Laippatie 4, FI-00881 Helsinki, Finland |
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| Abstract: | We report a detailed study of eight patients from four Italian families presenting with autosomal recessive axonal Charcot-Marie-Tooth disease (AR-CMT2), characterized by early-onset and progressive severe weakness of all limbs. Vocal cord paresis was present in two cases. Sural nerve biopsy performed in three patients showed a severe neuropathy characterized by a predominant axonal involvement. Five novel mutations (p.Gln99stop, p.Gln122Lys, p.Arg125stop, p.Val219Asp, p.Asn297Lys) and one previously reported mutation (p.Leu239Phe) were identified in GDAP1 gene. GDAP1 mutations should be considered both in recessive and sporadic cases of early-onset axonal CMT. |
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