Intracortical inhibition of the motor cortex in Segawa disease (DYT5)

Neurology

Volumn 68, Issue 13, 2007, Pages 1039-1044

  Hanajima, R ^a,c   Nomura, Y ^b   Segawa, M ^b   Ugawa, Y ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b Segawa Neurological Clinic for Children   (Japan)

^c UNIVERSITY OF TOKYO HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DYSTONIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENETIC DISORDER; HUMAN; MALE; MOTOR ACTIVITY; MOTOR CORTEX; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SEGAWA DISEASE; TIBIALIS ANTERIOR MUSCLE; TRANSCRANIAL MAGNETIC STIMULATION;

ADULT; BASAL GANGLIA; BIOPTERIN; BRAIN DISEASES, METABOLIC; DIAGNOSIS, DIFFERENTIAL; DOPAMINE; DOPAMINE AGENTS; DYSTONIC DISORDERS; EVOKED POTENTIALS, MOTOR; FEMALE; GAMMA-AMINOBUTYRIC ACID; GTP CYCLOHYDROLASE; HUMANS; INTERNEURONS; LEVODOPA; MALE; MIDDLE AGED; MOTOR CORTEX; MUSCLE, SKELETAL; NEURAL INHIBITION; NEURAL PATHWAYS; PHENOTYPE; TRANSCRANIAL MAGNETIC STIMULATION;

EID: 34147113427     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000257816.92101.54     Document Type: Article

References (26)

1. Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215-233.
2. Nygaard TG. Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 1993;60:577-585.
3. Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev 2000;22(suppl 1):S65-80.
4. Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol 2003;54:S32-45.
5. Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;8:236-242.
6. Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T. Molecular genetics of dopa-responsive dystonia. Biol Chem 1999;380:1355-1364.
7. Furukawa Y, Kish SJ, Bebin EM, et al. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol 1998;44:10-16.
8. Nishiyama N, Yukishita S, Hagiwara H, Kakimoto S, Nomura Y, Segawa M. Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia. Brain Dev 2000;22(suppl 1):S102-106.
9. Kujirai T, Caramia MD, Rothwell JC, et al. Corticocortical inhibition in human motor cortex. J Physiol 1993;471:501-519.
10. Hanajima R, Ugawa Y, Terao Y, et al. Paired-pulse magnetic stimulation of the human motor cortex: differences among I waves. J Physiol 1998;509:607-618.
11. Ilic TV, Meintzschel F, Cleff U, Ruge D, Kessler KR, Ziemann U. Short-interval paired-pulse inhibition and facilitation of human motor cortex: the dimension of stimulus intensity. J Physiol 2002;545:153-167.
12. Ridding MC, Sheean G, Rothwell JC, Inzelberg R, Kujirai T. Changes in the balance between motor cortical excitation and inhibition in focal, task specific dystonia. J Neurol Neurosurg Psychiatry 1995;59:493-498.
13. Hanajima R, Ugawa Y, Terao Y, Ogata K, Kanazawa I. Ipsilateral cortico-cortical inhibition of the motor cortex in various neurological disorders. J Neurol Sci 1996;140:109-116.
14. Rona S, Berardelli A, Vacca L, Inghilleri M, Manfredi M. Alterations of motor cortical inhibition in patients with dystonia. Mov Disord 1998;13:118-124.
15. Hanajima R, Ugawa Y, Terao Y, et al. Cortico-cortical inhibition of the motor cortical area projecting to sternocleidomastoid muscle in normals and patients with spasmodic torticollis or essential tremor. Electroencephalogr Clin Neurophysiol 1998;109:391-396.
16. Ridding MC, Flavel SC. Induction of plasticity in the dominant and non-dominant motor cortices of humans. Exp Brain Res 2006;171:5551-557.
17. Fisher RJ, Nakamura Y, Bestmann S, Rothwell JC, Bostock H. Two phases of intracortical inhibition revealed by transcranial magnetic threshold tracking. Exp Brain Res 2002;143:240-248.
18. Hanajima R, Furubayashi T, Iwata NK, et al. Further evidence to support different mechanisms underlying intracortical inhibition of the motor cortex. Exp Brain Res 2003;151:427-434.
19. Ridding MC, Inzelberg R, Rothwell JC. Changes in excitability of motor cortical circuitry in patients with Parkinson's disease. Ann Neurol 1995;37:181-188.
20. Nutt JG, Nygaard TG. Response to levodopa treatment in doparesponsive dystonia. Arch Neurol 2001;58:905-910.
21. Huang Y-Z, Trender-Gerhard I, Edwards MJ, Mir P, Rothwell JC, Bhatia KP. Motor system inhibition in dopa-responsive dystonia and its modulation by treatment. Neurology 2006;66:1088-1090.
22. Deonna T, Roulet E, Ghika J, Zesiger P. Dopa-responsive childhood dystonia: a forme fruste with writer's cramp, triggered by exercise. Dev Med Child Neurol 1997;39:49-53.
23. Bandmann O, Valente EM, Holmans P, et al. Dopa-responsive dystonia: a clinical and molecular genetic study. Ann Neurol 1998;44:649-656.
24. Berardelli A, Rothwell JC, Thompson PD, Hallett M. Pathophysiology of bradykinesia in Parkinson's disease. Brain 2001:124;2131-2146.
25. Edwards MJ, Huang YZ, Wood NW, Rothwell JC, Bhatia KP. Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation. Brain 2003;126:2074-2080.
26. Rajput AH, Gibb WR, Zhong XH, et al. Dopa-responsive dystonia: pathological and biochemical observations in a case. Ann Neurol 1994;35:396-402.