Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

Neurology

Volumn 82, Issue 22, 2014, Pages 1999-2002

  Méneret, Aurélie ^a,b,f   Depienne, Christel ^a,f   Riant, Florence ^g,h   Trouillard, Oriane ^a   Bouteiller, Delphine ^a   Cincotta, Massimo ^c,h   Bitoun, Pierre ⁱ   Wickert, Julia ^j   Lagroua, Isabelle ^a,d   Westenberger, Ana ^k   Borgheresi, Alessandra ^h   Doummar, Diane ^l   Romano, Marcello ^m   Rossi, Simone ⁿ   Defebvre, Luc ^o   De Meirleir, Linda ^p   Espay, Alberto J ^q   Fiori, Simona ^r   Klebe, Stephan ^s   Quélin, Chloé ^t,u   Rudnik Schöneborn, Sabine ^v   Plessis, Ghislaine ^w   Dale, Russell C ^x   Brooks, Susan Sklower ^y   Dziezyc, Karolina ^z   Pollak, Pierre ^aa   Golmard, Jean Louis ^d   Vidailhet, Marie ^a,b,f   Brice, Alexis ^a,c,f   Roze, Emmanuel ^a,b,e,f   more..

^a INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^b Département de Neurologie Fédération de Génétique   (France)

^c Département de Génétique et de Cytogéné tique   (France)

^d Banque d'ADN et de cellules ^*  (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f SORBONNE UNIVERSITÉ   (France)

^g HÔPITAL LARIBOISIÈRE   (France)

^h INSERM   (France)

ⁱ Florence Health Authority   (Italy)

^j HÔPITAL JEAN VERDIER   (France)

^k UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^l UNIVERSITY OF LÜBECK   (Germany)

^m ARMAND TROUSSEAU HOSPITAL   (France)

ⁿ VILLA SOFIA CERVELLO HOSPITAL   (Italy)

^o UNIVERSITY HOSPITAL OF SIENA   (Italy)

^p LILLE UNIVERSITY HOSPITAL   (France)

^q UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^r UNIVERSITY OF CINCINNATI ACADEMIC HEALTH CENTER   (United States)

^s DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^t UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^u SERVICE DE RHUMATOLOGIE   (France)

^v UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^w CHU Clemenceau   (France)

^x UNIVERSITY OF SYDNEY   (Australia)

^y ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^z INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^aa GENEVA UNIVERSITY HOSPITALS   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RAD51 PROTEIN;

ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER; CONGENITAL MIRROR MOVEMENTS; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

CARRIER PROTEINS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; HUMANS; MOVEMENT DISORDERS; MUTATION; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, CELL SURFACE; SEVERITY OF ILLNESS INDEX; TUMOR SUPPRESSOR PROTEINS;

EID: 84903954125     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000477     Document Type: Article

References (9)

1. Bonnet C, Roubertie A, Doummar D, Bahi-Buisson N, Cochen de Cock V, Roze E. Developmental and benign movement disorders in childhood. Mov Disord 2010;25: 1317-1334.
2. Gallea C, Popa T, Hubsch C, et al. RAD51 deficiency disrupts the corticospinal lateralization of motor control. Brain 2013;136: 3333-3346.
3. Srour M, Riviere JB, Pham JM, et al. Mutations in DCC cause congenital mirror movements. Science 2010;328: 592.
4. Depienne C, Bouteiller D, Meneret A, et al. RAD51 haploinsufficiency causes congenital mirror movements in humans. Am J Hum Genet 2012;90: 301-307.
5. Depienne C, Cincotta M, Billot S, et al. A novel DCC mutation and genetic heterogeneity in congenital mirror movements. Neurology 2011;76: 260-264.
6. Finger JH, Bronson RT, Harris B, Johnson K, Przyborski SA, Ackerman SL. The netrin 1 receptors Unc5h3 and Dcc are necessary at multiple choice points for the guidance of corticospinal tract axons. J Neurosci 2002;22: 10346-10356.
7. Park JY, Yoo HW, Kim BR, Park R, Choi SY, Kim Y. Identification of a novel human Rad51 variant that promotes DNA strand exchange. Nucleic Acids Res 2008;36: 3226-3234.
8. Woods BT, Teuber HL. Mirror movements after childhood hemiparesis. Neurology 1978;28: 1152-1157.
9. NHLBI GO Exome Sequencing Project (ESP): Exome Variant Server [online]. Available at: http://evs.gs.washington. edu/EVS/. Accessed October 2013.