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Objective: To explore the clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy (DRPLA)., Methods: DNA analysis for DRPLA gene was performed in two patients. Clinical features and genetic testing of Chinese DRPLA patients reported in the literature were reviewed in terms of initial symptoms, CAG repeat and age of onset., Results: Both families were confirmed by genetic analysis. In family 1, the number of CAG repeat in the proband, his brother and his mother was determined respectively as 8/65, 8/53 and 8/18. In family 2, the number of CAG repeat was respectively 13/63, 13/18, 18/52 and 13/13 in the proband, his brother, his father and his mother. The size of the expanded CAG repeats has inversely correlated with the age at onset (P<0.05, r=- 0.555). The age at onset of epilepsy was 10 and that for the onset of ataxia is forty years in initial symptom., Conclusion: The clinical characteristics of DRPLA include epilepsy, ataxia and cognitive impairment. The initial symptoms are epilepsy in adolescence and ataxia in adults. The size of expanded CAG repeats inversely correlates with the age at onset. The initial symptoms are different with different age of onset. It is difficult to diagnose DRPLA at an early stage.

Objective: Variations of the signal intensities in the magnetic resonance (MR) T(1)-weighted image (T(1)WI) of globus pallidus among manganese(Mn)-exposed workers were explored to provide a scientific basis for exposed biomarker of manganese-injured central nervous system (CNS)., Methods: The brain MR T(1) and T(2) WI in eighteen male asymptomatic Mn-exposed, eight manganism and nine healthy control workers were examined routinely by adopting a 1.5 Tesla signal superconducting system. The SIGP and the signal intensity in frontal white matter (SIFWM) in the same side were determined, then pallidal index (PI) was calculated. Concentration of MnO(2) in workplaces and content of manganese in red blood cell (MnRBC) among workers were respectively determined by flame atomic absorption spectrometer (AAS) and inductively coupled plasma-atomic emission spectrophotometry (ICP-AES). The follow-up investigation in the eight high Mn-exposed workers was made one year later., Results: The results showed that the median of air MnO(2) in smelting workplace was 0.64 mg/m(3)(0.07 - 5.40 mg/m(3)), which were respective 0.56 mg/m(3)(0.09 - 1.71 mg/m(3)) in power distribution room (low Mn-exposure) and 0.89 mg/m(3) (0.07 - 5.40 mg/m(3)) in furnace (high Mn-exposure). PI in the Mn-exposed and high Mn-exposed workers were both higher than those of the manganism and control workers(116.4 +/- 8.2, 119.0 +/- 7.9, 105.3 +/- 8.4 and 102.2 +/- 1.5, respectively. Mn vs control, t' = 7.146, P = 0.000; Mn vs manganism, t = 3.181, P = 0.004. High Mn-exposure vs control, t' = 7.446, P = 0.000; high Mn-exposure vs manganism, t = 3.763, P = 0.001). The increased signal in T(1)WI of globus pallidus was observed in Mn-exposed workers, especially in high Mn-exposed workers. The content of manganese in red blood cell of Mn-exposed and control workers was significantly higher than those of the manganism workers [(151.6 +/- 40.5) ng/ml, (149.2 +/- 21.3) ng/ml, (154.5 +/- 46.6) ng/ml, (144.4 +/- 14.2) ng/ml, (20.8 +/- 7.4) ng/ml respectively. The difference was significant in statistics. Manganism vs control, t = 20.206, P = 0.000; manganism vs Mn, t' = 13.144, P = 0.000; manganism vs low and high Mn, t' = 12.964, 9.957, respectively, P = 0.000]. Only a decreased median of air MnO(2) in furnace was found one year later (0.89, 0.31 mg/m(3), Z = -2.142, P = 0.032). The difference was significant in statistics., Conclusion: Our data suggests that SIGP of MR T(1)WI among workers was obviously increased by manganese-exposure. PI may be taken as the signal of CNS injury which was induced by manganese-exposure.

Objective: To assess the efficacy of phase-weighted imaging in differentiating multiple system atrophy (MSA) from idiopathic Parkinson disease (IPD)., Methods: A phase-weighted sequence was performed covering striatum in 21 patients with MSA, 20 patients with IPD, and 26 age-matched healthy volunteers after conventional brain magnetic resonance imaging examination on a 3.0T magnetic resonance imaging system. An experienced neuroradiologist who were blind to the clinical diagnosis applied region of interest (ROI) on post-processing phase images to measure the phase shift value of bilateral globus pallidus, putamen, and caudate head., Results: The phase shift values at bilateral putamen of MSA group were significantly lower than those of IPD group and control group (P < 0.05), while phase shift values at other locations of MSA group were not statistically different from those of other groups. The phase shift values showed no statistical difference between IPD group and control group at all regions., Conclusion: Quantitative phase-weighted imaging is a useful sequence to reflect the abnormal iron accumulation in brains of patients with movement disorders and is helpful in the differential diagnosis between MSA and IPD.

Objective: To explore the patterns of neuronal activity in the basal ganglia nucleus in parkinsonian patients with levodopa-induced dyskinesia (LID)., Methods: Sixteen idiopathic parkinsonian patients, 11 males and 5 female: 5; aged 56.1 +/- 11.9, with the mean disease duration of (10.1 +/- 6.6). years and Hoehn & Yahr score ranging 2 -4, all with the symptoms of tremor, rigidity, and bradykinesia, 8 with severe LID [with the mean unified Parkinson's disease rating scale (UPDRS) IV score of 6.8 +/- 1.5] underwent pallidotomy (n = 8) or subthalamic nucleus (STN) deep brain stimulation (DBS) implantation (6 bilaterally and 2 unilaterally). Microrecording was performed in the globus pallidus internus (GPi) and STN. Electromyogram (EMG) on the contralateral limbs to surgery was simultaneously recorded. Single unit analysis was performed. The interspike interval (ISI) and coefficient of variation (CV) of ISI were calculated. One-way ANOVA and rank test were employed to compare the ISI and CV among the patients., Results: Two hundred and thirty-eight neurons were identified from the GPi (n = 8) and STN (n = 14). 22.6% of them were tremor-related neurons, 33.8% were rapid tonic neuronal activity[ related, and 29.0% were irregular neuronal activity-related. It was discovered that 8. 0% of the neurons from GPi and STN were with grouped discharge following long period pause with the CV of 87 +/- 0.55, and 7.5% of the neurons were with low frequency firing with the mean frequency of (17.7 +/- 5.9) Hz. ANOVA revealed that in the STN the CV of the neurons with irregular with grouped discharge was significantly higher than those of the neurons with irregular neuronal activity and with low frequency firing (both P < 0.05), the ISI of the neurons with irregular grouped discharge was significantly higher than that of the neurons with low frequency firing and significantly higher than that of the neurons irregular neuronal activity (both P < 0.05); and in the GPi the CV of the neurons with irregular grouped discharge was significantly lower than those of the neurons with irregular neuronal activity and those with low frequency firing and the ISI of the neurons with irregular grouped discharge was significantly higher than those of the other groups (all P < 0.05). Chi square test showed that majority of the neurons with grouped discharge and neurons with low frequency firing mainly existed in the GPi and STN of the PD patients with LID (all P < 0.05)., Conclusion: The altered neuronal activity in the basal ganglia nucleus of GPi and STN plays an important role in the pathophysiology of PD and LID.

Objective: To investigate the neuronal activities in the globus pallidus internus (GPi) related to parkinsonian rigidity and bradykinesia, Methods: Twenty-six patients (M: 13 and F: 13) with parkinsonian syndromes of rigidity and bradykinesia, aged (58 +/- 11) with the duration of disease of (5.5 +/- 3.4) years, underwent pallidotomy. Their unified Parkinson's disease rating scale (UPDRS) motor score of rigidity was > or =5 (total score: 8) and the UPDRS score of bradykinesia was > or =9 (total score: 16) at "off" medication state pre-operationally. During operation, microelectrode recording in the GPi and electromyography (EMG) on the contralateral limbs to the surgery were performed. Single unite analysis and coefficient of variation (CV) of the interspike interval (ISI) were performed. The UPDRS motor score was assessed pre- and post-operationally. One-way ANOVA was carried out to study the firing rate as well as the ISI and CV of the ISI among different types of neuronal activity. Bonferroni test was conducted for means comparison., Results: 10.1% (n = 24) of the total 237 GPi neurons (26 trajectories) showed discharge activity related to tremor (4-6 Hz), 57.4% (n = 136) of the neurons discharged tonic activity, and 32.5% (n = 77) neurons discharged irregular activity. Further analysis focused on 136 tonic active neurons and found that 75.7% (n = 103) of the neurons were characterized by a mean firing rate of (124.1 +/- 39.2) Hz with an ISI of (8.7 +/- 6.9) ms, and 24.3% (n = 33) of the neurons were characterized by a relative normal mean firing rate of (69.5 +/- 5.9) Hz with an ISI of (14.4 +/- 13.2) ms. The neurons with irregular neuronal activity had a mean firing rate of (30.2 +/- 9.8) Hz with an ISI of (35.6 +/- 36.8) ms. ANOVA revealed that there were statistically differences in the mean firing rate, ISI, and CV of the ISI for these neurons with relative normal tonic activity, high frequency tonic activity, and irregular activity (P < 0.01). UPDRS showed that the improvement of rigidity and bradykesia were 71.9% and 61.8% respectively., Conclusion: High percent neurons with high frequency tonic activity and irregular neuronal activity observed in GPi suggest that the neuronal activity with altered rate and pattern may play an important role in parkinsonian symptoms such as rigidity and bradykinesia.

Objective: The involvement of globus pallidus has been found in neonates with acute bilirubin encephalopathy (ABE), but so far the relationship between the severity of hyperbilirubinemia and changes of globus pallidus has not been studied further. The present study was conducted to understand possible relationship between the MRI signal changes of globus pallidus and severe hyperbilirubinemia in the neonates to provide evidences for diagnosis of bilirubin encephalopathy and prediction of outcome., Methods: Thirty-six neonates with severe hyperbilirubinemia (total serum bilirubin, i.e., TSB > 342 micromol/L) received MRI examination in a magnetic field with the strength of 1.5 - 3.0 Tesla at ages of 10 +/- 6 (2 - 34) days of life, of whom 15 were assessed as acute bilirubin encephalopathy (ABE). Routine T1WI with three kinds of sequences (SE, IR and FFE), T2WI and DWI with two kinds of sequences (EPI-SE and DW SSh SENSE) were applied. Two neuroradiologists who knew nothing about the clinical history analyzed MRI findings. TSB, unconjugated bilirubin (UCB), conjugated bilirubin (CB) and albumin (ALB) in all these neonates were measured with the same methods and analyzer., Results: Symmetric hyperintense globus pallidus was shown on T1WI in 20 neonates, of whom three had symmetric hyperintense globus pallidus on T2WI (TSB = 745.3 micromol/L, 735.7 micromol/L, 707.6 micromol/L, respectively) at the same time. Remarkably higher TSB, molar ratio of TSB and ALB (B/A) and UCB were found in 20 neonates with hyperintense globus pallidus as compared to 16 cases without changes of globus pallidus (P = 0.000). No abnormal signal changes were found on DWI for all neonates; 9 neonates with TSB ranged from 342.0 micromol/L to 427.5 micromol/L did not show any abnormalities of globus pallidus, 3 of 7 neonates with TSB ranged from 427.5 micromol/L to 513.0 micromol/L, but 17 of 20 neonates with TSB more than 513.0 micromol/L showed distinct hyperintense globus pallidus. Hyperintense globus pallidus on T1WI was related to the severity of hyperbilirubinemia (Fisher's Exact Test, P = 0.000). Hyperintense globus pallidus on T1WI was found in all the 15 neonates with ABE (Fisher's Exact Test, P = 0.000), at the same time, hyperintense globus pallidus on T2WI was found in 3 cases with severe ABE. Six infants received the second MRI at ages from 2 months to 12 months, two of three infants with ABE in neonatal period showed the signal changes of globes pallidus from T1WI hyperintensity to T2WI hyperintensity and they developed cerebral palsy. The other one with normal signal showed hearing dysfunction. Another three infants without history of ABE did not show abnormal signals of globus pallidus and developed normally., Conclusions: The symmetric involvement of globus pallidus with hyperintense signals on MRI T1WI indicates the severity of hyperbilirubinemia, which relates to time of exposure to hyperbilirubinemia and is a characteristic finding of ABE. The signal switch of hyperintense globus pallidus from T1WI to T2WI predicts poor outcome.

Objective: To investigate the neuronal activities in the ventrolateral thalamus (VL), internal globus pallidus (GPi), and subthalamic nucleus (STN) in relation to parkinsonian symptoms., Methods: Twenty-seven patients with Parkinson's disease, 17 males and 10 females, aged 59 +/- 8, received stereotactic surgical treatment on the VL (n = 10), GPi (n = 10), or STN (n = 7) respectively. Microelectrode recording in the three nuclei and electromyography (EMG) on the limbs contralateral to the surgical side were performed intraoperatively. All patients were evaluated with the unified Parkinson's disease rating scale (UPDRS) in "off" medication state pre-and post-operatively. Single unit analysis and cross-correlation analysis were carried out to explore the relationship among the neuronal activities and limb EMG. One-way ANOVA was performed to study the numbers of neuron in these 3 nuclei in different discharge patterns and the improvement of the 3 main symptoms of Parkinson's disease., Results: Three hundred and sixty-one neurons were obtained from 27 microrecording trajectories (146 for VL, 139 for GPi, and 76 for STN). Three patterns of neuronal activities were identified: tremor-related activities ("tremor cells", n = 159); tonic neuronal activities (n = 134), and irregular neuronal activities (n = 68). The rhythm of the tremor-related activities was correlated with the frequency of limb tremor in VL (r(2) = 0.8, P < 0.01), GPi (r(2) = 0.7, P < 0.01), and STN (r(2) = 0.5, P < 0.01). The average number of cells in each tract of VL, GPi, and STN were 9.0, 4.9, and 3.0 for tremor-related activities (ANOVA, P < 0.05); 4.2, 6.2 and 4.3 for tonic neuronal activities (ANOVA, P > 0.05) and 1.4, 2.8 and 3.7 for irregular neuronal activities (ANOVA, P < 0.05). The UPDRS revealed that VL had the highest effect on tremor improvement (91.7%) as compared to GPi (84.8%) and STN (62.7%), whereas STN and GPi had significant effects on bradykinesia improvement (70.8% and 62.3% respectively) as compared to VL (36.9%). However there was no significant difference in the improvement of rigidity among VL, GPi, and STN (56.2%, 71.3%, and 68.8% respectively, all P > 0.05)., Conclusion: Different patterns of neuronal activities in VL, GPi and STN are likely to associate with parkinsonian symptoms. The results are important not only for the target selection, but also for understanding of neurophysiological basis underlying Parkinson's disease.

Objective: To evaluate the outcome of posteroventral pallidotomy (PVP) for Parkinson's disease (PD)., Method: The data from 100 patients with PD receiving PVP were retrospectively analyzed with UPDRS., Result: PVP significantly improved PD symptoms. Several typical symptoms were improved:tremor in 72% patients, rigidity 81%, akinesia 71%, gait 60%, balance 64% and off state 75%., Conclusion: PVP improves Parkinsonian symptoms, and is superior to classical thalamotomy. Microelectrode recording is essential to surgical results and avoidance of severe complication.

This is the first pathology report on Joseph's disease in China, based on autopsies of 2 members of the Huang family. The main pathological changes were chiefly located in the central nervous system including globus pallidus and Luy's body, cerebellar dentate nucleus, cranial nerve motor nuclei of brain stem, substantia nigra and red nuclei, and also there were severe loss of neurons in the anterior horn and Clarke's nuclei; severe demyelinization of cerebellospinal tract and degeneration with demyelinization of the peripheral nerves accompanied by neurogenic skeletal muscular atrophy. It is concluded that the pathologic characteristics were similar to those found in Europe, United States and Japan.