PMID- 17389309
OWN - NLM
STAT- MEDLINE
DCOM- 20070425
LR  - 20231213
IS  - 1526-632X (Electronic)
IS  - 0028-3878 (Linking)
VI  - 68
IP  - 13
DP  - 2007 Mar 27
TI  - Intracortical inhibition of the motor cortex in Segawa disease (DYT5).
PG  - 1039-44
AB  - BACKGROUND: Segawa disease (autosomal dominant guanosine triphosphate 
      cyclohydrolase I [GTP-I] deficiency, DYT5) is a hereditary dopa-responsive 
      generalized dystonia. OBJECTIVE: To investigate the pathophysiologic mechanisms 
      for dystonia in Segawa disease, we studied intracortical inhibition of the 
      primary motor cortex in patients with Segawa disease. METHODS: We studied 9 
      patients with Segawa disease (8 genetically confirmed patients and 1 with 
      abnormally low GTP-I activity) and 12 age-matched normal control subjects. We 
      studied the active motor threshold (AMT) using single pulse transcranial magnetic 
      stimulation (TMS) and the short-interval intracortical inhibition (SICI) of the 
      motor cortex using the previously reported paired pulse TMS method. Responses 
      were recorded from the first dorsal interosseous (FDI) and tibialis anterior (TA) 
      muscles. RESULTS: The AMT was not significantly different between the patients 
      and normal subjects. For both studied muscles, in Segawa disease, normal amount 
      of SICI was evoked at interstimulus intervals (ISIs) of 1 to 4 msec even though 
      they had dystonia in those muscles. CONCLUSION: Normal SICI of the motor cortex 
      in Segawa disease stands in remarkable contrast to the previously reported 
      reduction of SICI in focal dystonia. This suggests that the gamma-aminobutyric 
      acid A system of the motor cortex is intact in Segawa disease. The 
      pathophysiologic mechanisms for dystonia must be partly different between Segawa 
      disease and focal dystonia.
FAU - Hanajima, R
AU  - Hanajima R
AD  - Department of Neurology, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 
      113-8655, Japan. hanajima-tky@umin.ac.jp
FAU - Nomura, Y
AU  - Nomura Y
FAU - Segawa, M
AU  - Segawa M
FAU - Ugawa, Y
AU  - Ugawa Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - 0 (Dopamine Agents)
RN  - 0 (Biopterins)
RN  - 46627O600J (Levodopa)
RN  - 56-12-2 (gamma-Aminobutyric Acid)
RN  - EC 3.5.4.16 (GTP Cyclohydrolase)
RN  - EGX657432I (sapropterin)
RN  - VTD58H1Z2X (Dopamine)
SB  - IM
MH  - Adult
MH  - Basal Ganglia/metabolism/physiopathology
MH  - Biopterins/analogs & derivatives/deficiency
MH  - Brain Diseases, Metabolic/diagnosis/metabolism/*physiopathology
MH  - Diagnosis, Differential
MH  - Dopamine/metabolism
MH  - Dopamine Agents/pharmacology/therapeutic use
MH  - Dystonic Disorders/diagnosis/metabolism/*physiopathology
MH  - Evoked Potentials, Motor/physiology
MH  - Female
MH  - GTP Cyclohydrolase/deficiency
MH  - Humans
MH  - Interneurons/metabolism
MH  - Levodopa/pharmacology/therapeutic use
MH  - Male
MH  - Middle Aged
MH  - Motor Cortex/*physiopathology
MH  - Muscle, Skeletal/innervation/physiopathology
MH  - Neural Inhibition/*genetics
MH  - Neural Pathways/metabolism/*physiopathology
MH  - Phenotype
MH  - Transcranial Magnetic Stimulation
MH  - gamma-Aminobutyric Acid/*metabolism
EDAT- 2007/03/29 09:00
MHDA- 2007/04/26 09:00
CRDT- 2007/03/29 09:00
PHST- 2007/03/29 09:00 [pubmed]
PHST- 2007/04/26 09:00 [medline]
PHST- 2007/03/29 09:00 [entrez]
AID - 68/13/1039 [pii]
AID - 10.1212/01.wnl.0000257816.92101.54 [doi]
PST - ppublish
SO  - Neurology. 2007 Mar 27;68(13):1039-44. doi: 10.1212/01.wnl.0000257816.92101.54.