JNNP: Mutations in the GCH1 gene and changes in brain structure in patients with doba reactive dystachia.

The GCH1 gene encodes bird glycoside-5'-triphosphate (GTP) cyclic hydrolyzedase 1 (GTP-CH1), an enzyme involved in the first and speed-limiting steps of the head-to-head biosynthesis of tethydrobide, and a necessary cofactor for the synthesis of dopamine by neurons of the black synthesizer.
GCH1 mutation is the most common cause of doba reactive dystagon disorder (DRD).
this rare normal chromosomal motor disorder is mainly manifested in childhood limb dystroma disorders, although there may also be characteristics of Parkinson's disease.
the disease is characterized by the absence of motor complications in small doses of L-Doba.
neuropathology and most dopamine-energy imaging studies in patients with GCH1-related DRDs suggest that this is a neurotransmitter, not a neurodegenerative disease.
, however, case reports show that some adult dystachia disorders with GCH1 mutations - Parkinson's syndrome patients have the black symposome dopamine energy loss nerve (DaTSCAN abnormalities).
may be due in part to a lack of timely treatment, suggesting underlying neurodegenerative changes.
has not yet conducted an MRI study to assess the presence of structural damage that supports DRD's potential neurodegenerative lesions.
the study, magnetic resonance imaging (1.5t) was used to assess patterns of cortical thickness, substrate volume, and whiteness (WM) microstructage changes in DRD patients and healthy control groups.
healthy comparison of 9 DRD patients with clinical manifestations and 37 age-matched and gender-matched patients.
all subjects were provided with written informed consent.
the DaTSCAN is normal in all patients.
subjects were subjected to a 3D T1 weighted and dispersed MRI.
three cerebral cortical thicknesses and gray mass volumes, as well as WM anomalies, were analyzed using free-form and trail-based spatial statistics, respectively.
three statistically significant results showed that p.lt;0.05.
DRD patients (age 43.8±16.3 years; 7F/2M) and healthy subjects (age 41.4±12.2 years; 24F/13M) had statistical variables that were comparable.
DRD patients (age 14.2±12.1) are characterized by long course (29.2±11.±9 years;
clinical performance was lighter (Burke-Fahn-Marsden score: 2.0±2.6; uniform dystia assessment scale: 4.9±5.7).
dystatic dysfunction was confirmed in all patients, and in 8 patients, only 1 was associated with Parkinson's disease as a single symptom.
analysis of cortline thickness showed that, compared with the control group, drD patients had thinning of the right-hand central front, back buckle back, edge back, left-hand temporal back and back buckle back corted (p-0.01-0.04).
compared to the control group, the volume of the right shell nucleo and pale ocytle in DRD patients also increased (p-0.04) and the pale ball volume (p-0.01).
Compared with the healthy control group, DRD patients with cortical spinal cord bundles, radiation crowns, upper beams, inner sac forestresses, outer membranes, xyrobladder knees, cymbal wM and cerebral infarction had a wide range of right-hand WM injuries (increased average and radial diffusion coefficients).
changes under the cortical cortical and cortical cortical cortical cortology of the cerebral cortical cortology are contradictory.
these structural imaging changes are often interpreted as plastic changes due to abnormal sensory inputs and abnormal motion outputs in repetitive motion or non-stressed postures.
DRD patients showed thinning of the primary motor cortique and related sensory motor regions, supporting complex multi-layered changes in the process of sensory motion integration in drED.
increase in the volume of the crust nuclei and pale balls was observed in carriers with dystachia disorder and asymptomatic DYT1 mutations, while shell nucleotrophy was found in patients with Parkinson's disease (PD).
DRD patients have a long course of illness and significant delays in treatment, residual movement disorders are very mild, which may be related to the protective effect of the enlarged nucleation, which means that the compensation mechanism is still in place.
, on the other hand, chronic synth dopamine deficiency can cause dopamine energy D2 subject increase, leading to substrate pattern changes and dystamism disorders.
gm and WM changes in the physical morphology suggest complex cortical neural network disorders, not just mere dopamine deficiencies.
However, it remains unclear whether changes in brain morphology in DRD patients represent the primary brain vulnerability of the GCH1 mutation, or whether the loss of compensation mechanisms due to the long duration of the disease and dopamine deficiency require further study in a larger population.
Kostić VS, Agosta F, Tomic A, et al Brain structural alterations in patients with GCH1 mutations associated DOPA-responsive dystonia Journal of Neurology, Neurosurgery and Psychy Published Online: 21 October 2020. doi: 10.1136/jnnp-2020-324535MedSci Original Source: MedSci Original Copyright Notice: All text, images and audio and video materials on this website that indicate "Source: Met Medical" or "Source: MedSci Original" are owned by Mets Medicine and are not authorized to reproduce any media, website or individual, "Source: Metz Medicine" shall be indicated at the time of authorization for reprint.
all reprinted articles on this website are for the purpose of transmitting more information and clearly indicate the source and author, and media or individuals who do not wish to be reproduced may contact us and we will delete them immediately.
at the same time reproduced content does not represent the position of this site.
leave a message here.