单胺氧化酶B基因多态与早发帕金森病的相关性

Objective To investigate the association between polymorphisms in monoamine oxidase B (MAO-B)and early-onset Parkinson's disease(EOPD).Methods Polymerase chsin reactionrestriction fragment length polymorphism was used to identify the genotypes of polymorphisms in MAO-B in 65 patients in EOPD group(early-onset age<50 years),60 in late-onset Parkinson's disease(LOPD) group(late-onset age≥160 years)and 66 healthy controls(<50 years).Results The frequency of AA genotype was higher in EOPD groups(49/65,75.4%)than in healthy controls(34/66,51.5%),and the difference between them was statistically significant(x2=8.075,P=0.018).The frequency of AA genotype between EOPD group and LOPD group,between LOPD group and healthy controls had no statistical significance.The frequency of AA genotype between male in EOPD group and male healthy controls,between female in EOPD group and female healthy controls had no statistical significance.The frequencies of AA genotype between male in EOPD group and LOPD group,between female in EOPD group and in LOPD group had no statistical significance.The frequency of AA genotype between male in LOPD group and in healthy controls,between female in LOPD group and female healthy controls had no statistical significance.The frequency of A alleles was higher in EOPD group(107/130,82.3%)than in healthy controls(87/132,65.9%)and the difierence between them was statistical significant(x2=9.165,P=0.002).The frequency of A allele between EOPD group and LOPD group,between LOPD group and healthy controls had no statistical significance. The frequency of A allele was higher in male EOPD group (60/70,85.7%) than in male healthy controls(51/72,70. 8% ), the difference between them was statistically significant (X2 =4. 606, P=0. 032) ;the frequency of A alleles was higher in female in EOPD group (47/60,78. 3% ) than in female healthy controls(36/60,60. 0% ), the difference between them was statistical significance( x2 =4. 728, P = 0. 030). The frequency of A alleles between male EOPD group and male LOPD group, between female EOPD group and female LOPD group had no statistical significance. The frequency of A allele between male LOPD group and male healthy controls, between female LOPD group and female healthy controls had no statistical significance. Conclusions The AA genotype of MAO-B is the risk factor of EOPD. The A allele of MAO-B is a risk factor of EOPD group for both male and female.     

单胺氧化酶B基因多态与早发帕金森病的相关性

Objective To investigate the association between polymorphisms in monoamine oxidase B (MAO-B)and early-onset Parkinson's disease(EOPD).Methods Polymerase chsin reactionrestriction fragment length polymorphism was used to identify the genotypes of polymorphisms in MAO-B in 65 patients in EOPD group(early-onset age<50 years),60 in late-onset Parkinson's disease(LOPD) group(late-onset age≥160 years)and 66 healthy controls(<50 years).Results The frequency of AA genotype was higher in EOPD groups(49/65,75.4%)than in healthy controls(34/66,51.5%),and the difference between them was statistically significant(x2=8.075,P=0.018).The frequency of AA genotype between EOPD group and LOPD group,between LOPD group and healthy controls had no statistical significance.The frequency of AA genotype between male in EOPD group and male healthy controls,between female in EOPD group and female healthy controls had no statistical significance.The frequencies of AA genotype between male in EOPD group and LOPD group,between female in EOPD group and in LOPD group had no statistical significance.The frequency of AA genotype between male in LOPD group and in healthy controls,between female in LOPD group and female healthy controls had no statistical significance.The frequency of A alleles was higher in EOPD group(107/130,82.3%)than in healthy controls(87/132,65.9%)and the difierence between them was statistical significant(x2=9.165,P=0.002).The frequency of A allele between EOPD group and LOPD group,between LOPD group and healthy controls had no statistical significance. The frequency of A allele was higher in male EOPD group (60/70,85.7%) than in male healthy controls(51/72,70. 8% ), the difference between them was statistically significant (X2 =4. 606, P=0. 032) ;the frequency of A alleles was higher in female in EOPD group (47/60,78. 3% ) than in female healthy controls(36/60,60. 0% ), the difference between them was statistical significance( x2 =4. 728, P = 0. 030). The frequency of A alleles between male EOPD group and male LOPD group, between female EOPD group and female LOPD group had no statistical significance. The frequency of A allele between male LOPD group and male healthy controls, between female LOPD group and female healthy controls had no statistical significance. Conclusions The AA genotype of MAO-B is the risk factor of EOPD. The A allele of MAO-B is a risk factor of EOPD group for both male and female.     

早发性帕金森病患者经颅超声的表现

目的 研究早发性帕金森病(EOPD)患者经颅超声(transcranial sonography,TCS)的表现.方法 招募符合入选标准的EOPD患者和性别、年龄匹配的正常对照者,分别进行TCS检测.对受试者的黑质信号进行半定量分级测评,同时测定第三脑室的宽度.结果 两组间黑质强回声分级有极强的显著性差异.黑质强回声分级与患者的年龄、发病年龄、病程及病情严重程度不相关.两组间第三脑室宽度无显著性差异.结论 和以往关于LOPD患者的研究结果类似,EOPD患者也能发现明显的黑质异常强回声.其强回声分级与患者年龄、发病年龄、病程及病情严重程度不相关.EOPD患者组无明显第三脑室增宽.     

CT引导经皮穿刺射频温控热凝半月神经节治疗老年原发性三叉神经痛：与<60岁患者3年随访结局比较

We evaluated the immediate and long-term clinical efficacy of computed tomography (CT)-guided radiofrequency thermocoagulation for primary trigeminal neuralgia (RTPTN) in 852 patients includ-ing 502 patients aged ≥ 60 years and 350 patients aged < 60 years.After discharge,the incidence of complications was 1.0% and 0.9% in patients aged ≥ 60 years and patients aged < 60 years,respectively.Over 3-year follow-up after CT-guided RTPTN,96.8% of the patients aged ≥ 60 years and 98.6% of the patients aged < 60 years were completely pain-free,and there was no significant difference between these two age brackets.In addition,there were no significant differences in quality of life scores and numbness scores between these two age brackets.These findings suggest that CT-guided RTPTN is a safe and effective method and is recommended for older and poor-risk patients.     

Traumatic axonal injury of the cingulum in patients with mild traumatic brain injury: a diffusion tensor tractography study

The cingulum, connecting the orbitofrontal cortex to the medial temporal lobe, involves in diverse cognition functions including attention, memory, and motivation. To investigate the relationship between the cingulum injury and cognitive impairment in patients with chronic mild traumatic brain injury, we evaluated the integrity between the anterior cingulum and the basal forebrain using diffusion tensor tractography in 73 patients with chronic mild traumatic brain injury(39 males, 34 females, age 43.29 ± 11.42 years) and40 healthy controls(22 males, 18 females, age 40.11 ± 16.81 years). The patients were divided into three subgroups based on the integrity between the anterior cingulum and the basal forebrain on diffusion tensor tractography: subgroup A(n = 19 patients)-both sides of the anterior cingulum were intact; subgroup B(n= 36 patients)-either side of the anterior cingulum was intact; and subgroup C(18 patients)-both sides of the anterior cingulum were discontinued. There were significant differences in total Memory Assessment Scale score between subgroups A and B and between subgroups A and C. There were no significant differences in diffusion tensor tractography parameters(fractional anisotropy, apparent diffusion coefficient, and fiber volume) between patients and controls. These findings suggest that the integrity between the anterior cingulum and the basal forebrain, but not diffusion tensor tractography parameter, can be used to predict the cognitive function of patients with chronic mild traumatic brain injury. This study was approved by Yeungnam University Hospital Institutional Review Board(approval No. YUMC-2014-01-425-010) on August 16, 2017.     

帕金森病患者血清中血脂含量检测分析

目的 探讨帕金森病患者血清中血脂的含量和帕金森病的关系.方法 选择2001～2008年于襄樊市第一人民医院门诊和病房就诊的帕金森病患者93例为病例组,选择年龄、性别、民族与帕金森病患者相匹配的健康人91例为对照组.检测血脂的含量,比较组间及性别间的差异性.结果 病例组血脂含量低于对照组(P<0.05)、低血脂患者的检出率高于对照组(P<0.05)、男女患者间低aPoB的检出率无差异(P>0.05).结论 低血脂与帕金森病的发生、发展可能有密切联系.

Abstract：

Objective A To discuss the relation between serum fats content in patients with Parkinson' s disease.Method 93 patients with Parkinson' s disease received a medical examination in the outpatient service and the hospital ward of Xiangfan city No 1 people hospital during 2001 - 2008 year were chosen as cases of illness group, and 91 healthy persons whose age,sex and nationality matched the Parkinson' s disease patients were chosen as control group. Blood fats content was examined, and then compared between the two groups. Results The blood fats content in illness group was lower than that of the control group ( P < 0.05 ). The detection rate of low blood fats in illness group was higher than that of the control group(P < 0. 05 ) , and there was no significant difference in the detection rate of low apoB between men and women in illness group ( P > 0. 05 ). Conclusion The low blood fat possibly has close relationship to the occurrence and the development of Parkinson' s disease.     

Abnormality of peripheral nerve conduction velocity associated with illness course, symptoms and fasting blood glucose in patients with type 2 diabetes mellitus

It has shown that abnormality of peripheral nerve conduction velocity during onset of diabetes mellitus is not related to age and sex, but to symptoms, illness course and level of fasting blood glucose.OBJECTIVE: To measure correlation of abnormality of peripheral nerve conduction velocity with various illness courses, symptoms and levels of fasting blood glucose of patients with type 2 diabetes mellitus.DESIGN: Case analysis.SETTING: Department of Neurology, Central People‘s Hospital of Huizhou.PARTICIPANTS: A total of 128 patients who were diagnosed as type 2 diabetes mellitus were selected from Central People‘s Hospital of Huizhou from September 2001 to October 2005. There were 75 males and 53 females aged 32-83 years and the illness course ranged from 1 month to 20 years.METHODS: All 128 patients with type 2 diabetes mellitus received neuro-electrophysiological study and their clinical data were retrospectively analyzed to measure peripheral nerve conduction velocity and fasting blood glucose so as to investigate the correlation of peripheral nerve conduction velocity with clinical symptoms,illness course and levels of fasting blood glucose.MAIN OUTCOME MEASURES: Correlation of peripheral nerve conduction velocity with clinical symptoms, illness course and levels of fasting blood glucose.RESULTS: All 128 patients with type 2 diabetes mellitus were involved in the final analysis. ① Among 128patients, 114 patients had abnormality of peripheral nerve conduction velocity; 110 patients had clinical symptoms, including 102 patients having abnormality of peripheral nerve conduction velocity; 18 patients did not have clinical symptoms, including 12 patients having abnormality of peripheral nerve conduction velocity.There were significant differences between them (x2=8.275, P=0.04). ② Among 128 patients, illness course of 75 patients was equal to or less than 5 years, including 27 patients having abnormality of peripheral nerve conduction velocity; illness course of 53 patients was more than 5 years, including 35 patients having abnormality of peripheral nerve conduction velocity. There were significant differences between them (x2=11.469,P =0.003). ③ Among 128 patients, levels of fasting blood glucose of 75 patients was equal to or lower than 11 mmol/L, including 41 patients having abnormality of peripheral nerve conduction velocity; levels of fasting blood glucose of 53 patients was higher than 11 mmol/L, including 38 patients having abnormality of peripheral nerve conduction velocity. There were significant differences between them (x2=4.023, P =0.134).CONCLUSION: ① Abnormality of peripheral nerve conduction velocity of patients with type 2 diabetes mellitus is related to illness courses and clinical symptoms. The longer the illness course is, the severer the abnormality of peripheral nerve conduction velocity is. Abnormality of peripheral nerve conduction velocity always occurs on patients who have clinical symptoms. ② Abnormality of peripheral nerve conduction velocity is not related to levels of fasting blood glucose.     

Correlation between prion protein gene codon 129 polymorphism and late-onset Alzheimer's disease

BACKGROUND:Studies addressing the correlation between prion protein gene codon 129 polymorphism,Alzheimer's disease,and cognitive disorders have mainly focused on Caucasians.However,prion protein gene codon 129 polymorphism is thought to also affect the Chinese Han and Wei populations.OBJECTIVE:To analyze the differences of prion protein gene codon 129 distribution among the elderly Chinese Han,East Asian,and Caucasian populations,and to study the correlation between prion protein gene codon 129 distribution and late-onset Alzheimer's disease.DESIGN,TIME AND SETTING:A gene polymorphism analysis was performed in the Institute of Geriatrics,General Hospital of Chinese PLA between January 2006 and January 2007.PARTICIPANTS:A total of 152 elderly Chinese Han people were selected from the Beijing Troop Cadre's Sanitarium.Among them,60 patients with late-onset Alzheimer's disease,with a mean age of (82±7) years (range 67-94 years) and disease course of (5.9±4.4) years,comprising 44 males with a mean age of (83±7) years and 16 females with a mean age of (78±7) years,were selected for the case group.An additional 92 healthy elderly subjects,with a mean of (76±9) years (range 60-94 years),comprising 76 males with a mean age of (77±9) years and 16 females with a mean age of (70±8) years,were selected for the control group.There were no significant differences in age and gender between the two groups (P>0.05).METHODS:DNA was extracted from peripheral blood leukocytes using routine phenol/chloroform methodology.Prion protein gene codon 129 polymorphism and ApoE polymorphism were measured using PCR-restriction fragment length polymorphism.The ApoEε allele was considered the standard for analyzing correlations between prion protein gene codon 129 polymorphism and late-onset Alzheimer's disease.MAIN OUTCOME MEASURES:Prion protein gene codon 129 distribution;correlation between genotypic frequency and allele frequency of prion protein gene codon 129 with Alzheimer's disease;relationship between methionine/methionine genotype of prion protein gene,ApoEε4 allele,gender,and age of Alzheimer's disease patients.RESULTS:Methionine/methionine genotypic frequency of prion protein gene codon 129 was 94.08% in the Chinese elderly population,and the methionine/valine genotypic frequency was 5.92%.However,valine/valine homozygotes were not determined.There was no significant difference in prion protein gene codon 129 polymorphism between the Chinese elderly and East Asian populations (P>0.05).However,there was a significant difference between the Chinese elderly and the Caucasian population (P<0.05).The methionine/methionine genotype for the positive and negative ApoEε4 alleles was a risk factor for increased incidence of Alzheimer's disease,but there was no significant difference between the positives and the negatives (odds ratio=1.33,95% confidence interval=0.32-5.49,P>0.05).CONCLUSION:Prion protein gene codon 129 distribution in the Chinese elderly was different from the Caucasian population,which suggested that the methionine/methionine genotype of prion protein gene codon 129 negatively correlated with late-onset Alzheimer's disease.     

Assessment on self-care,mobility and social function of children with spina bifida in Turkey

The aim of the study was to investigate the functional performance in children with spina bifida, using the Pediatric Evaluation of Disability Inventory(PEDI) to look into capacity of twenty-eight children with spina bifida with lesions at different levels in different dimensions of selfcare, mobility and social function. Mean age of the patients was 3.5 ± 2.3(1–10) years. In the muscle test carried out, 13 patients(44.8%) had no movements including pelvic elevation in lower extremity muscles and they were at level 5. Sixteen patients(54%) were non-ambulatory according to the Hoofer ambulation classification. Raw and scale scores in the self-care, mobility and social function domains both in the functional skill scale and in the caregiver scale were found to be lower compared to the data of the normal population. A statistically significant correlation was observed in the self-care values of the Functional Skills Scales and the Caregiver Assistance Scale measurements, which was positive for age and negative for Functional Ambulation Scale and muscle test(P 0.05). A positive relation was found between the Functional Skills Scales-mobility area and age while a negative relation was observed between Functional Ambulation Scale and muscle test(P 0.005). A negative relation was also found between Caregiver Assistance Scale-mobility and Functional Ambulation Scale and muscle test(P 0.005). In our study, the functional performance of the children was found to be low. Low-level lesions, encouraging muscular strength and independence in mobility are all very important factors for functional independence.     

Correlation between serum fructosamine and hyperglycemia in patients with acute cerebrovascular disease

BACKGROUND: Diabetes mellitus is one of the risk factors in patients with acute cerebral disease, and always leads to stroke or get it worse. There is often a high level of blood glucose in those patients with diabetes mellitus and cerebral disease, but it is hard to distinguish from both kinds of hyperglycemia. Serum fructosamine is said to be correlated with blood glucose. OBJECTIVE: To explore the relationship between serum fructosamine and blood glucose in patients with acute cerebrovascular disease. DESIGN: A case-controlled study. SETTINGS: Department of Clinical Laboratory, Health Department for Cadres and Department of Neurology of Affiliated Hospital, Qingdao University Medical College. PARTICIPANTS: Forty-eight inpatients and outpatients with cerebrovascular diseases were selected from the Department of Neurology, Affiliated Hospital of Qingdao University Medical College from December 2004 to April 2005. All the patients were confirmed with CT and MRI. There were 25 patients with diabetes mellitus secondary cerebrovascular diseases, who met the diagnostic standards of diabetes mellitus set by WHO, including 12 males and 13 females with an average of (60±8) years old, the course of diabetes mellitus ranged from 1 to 21 years.. The other 23 patients had no diabetes mellitus (without diabetes mellitus group), including 14 males and 9 females with an average of (62±6) years old. Meanwhile, another 50 healthy physical examinees in the hospital were selected as control group, including 26 males and 24 females with the average age of (62±5) years old. Informed content was obtained from all the participants. METHODS: Venous blood was drawn from all the participants, and content of blood glucose was assayed by means of glucose oxidase, and the concentration of serum fructosamine was determined by nitroblue tetrazolium colorimetric method. Comparison between groups was performed by the analysis of variance and q test, and the correlation was tested by linear regression analysis. MAIN OUTCOME MEASURES: ① Comparison of blood glucose and serum fructosamine among the groups; ② Correlation between serum fructosamine and blood glucose in patients with diabetes mellitus secondary cerebrovascular diseases and those without diabetes mellitus. RESULTS: All the 48 patients with cerebrovascular disease and 50 healthy subjects were involved in the analysis of results. ① Contents of blood glucose and serum fructosamine: There were obvious differences in the contents of blood glucose and serum fructosamine among the diabetes mellitus group, without diabetes mellitus group and control group (F =577.7, 115.1, P < 0. 01). The content of serum fructosamine in the diabetes mellitus group [(4.25±1.35) mmol/ L] was obviously higher than those in the control group and without diabetes mellitus group [(1.65±0.27), (1.96±0.25) mmol/ L, q =1.47, 1.30, P < 0.01], whereas there was no significant difference between the without diabetes mellitus group and control group (P > 0.05). The content of blood glucose was obviously higher in the patients with and without diabetes mellitus groups [(15.80±2.13), (9.50 ±1.78) mmol/L] than in the control group [(4.56 ±0.77) mmol/L, q =1.86, 2.46, P < 0.01], also markedly higher in the with diabetes mellitus group than in the without diabetes mellitus group (q =1.42, P < 0.01). ② Results of correlation analysis: The content of serum fructosamine was positively correlated with the level of fasting blood glucose in the patients with diabetes mellitus secondary cerebrovascular diseases (r = 0.603, P < 0.01). But there was no relationship between serum fructosamine and fasting blood glucose in the patients without diabetes mellitus (r =0.357, P > 0.05). CONCLUSION: The contents of blood glucose and serum fructosamine were obviously different among the diabetes mellitus group, without diabetes mellitus group and control group. There are closer relations between serum fructosamine and blood glucose in patients with diabetes mellitus secondary cerebral disorders, which are not observed in the patients without diabetes mellitus. Fructosamine is significant in differentiating the reasons for the increased blood glucose in patients with acute cerebrovascular disease.     

Sonographic discrimination of dementia with Lewy bodies and Parkinson's disease with dementia

Objective To study the use of transcranial sonography (TCS) in discriminating between patients with dementia with Lewy bodies (DLB) and Parkinson's disease with dementia (PDD). Methods Fourteen patients with DLB, 31 with PDD and 73 with PD without dementia (PDnD) were studied with TCS. Results All assessable patients with DLB, 97% with PDD, and 94% with PDnD showed at least unilateral hyperechogenicity of substantia nigra (SN). However, bilateral marked SN hyperechogenicity was present in 80% of DLB patients but only in one third of PDD and PDnD patients, and was associated with younger age at disease onset in PD but not in DLB. An asymmetry index ≥ 1.15 of bilateral SN echogenic sizes, estimated by division of larger size by smaller size, was found in 69% of PDD patients but only 20% of DLB patients. Combination of SN echogenic sizes, asymmetry indices and onset age discriminated PDD from DLB with a sensitivity of 96%, a specificity of 80% and a positive predictive value of 93%. TCS of brainstem raphe, thalami, lenticular nuclei, caudate nuclei and ventricle widths did not discriminate between DLB and PDD. Compared with PDnD patients, DLB and PDD patients exhibited significantly larger widths of third ventricle and of frontal horns. In PDD patients, scores on the Unified Parkinson's Disease Rating Scale correlated with widths of third ventricle and of frontal horns. Conclusions SN hyperechogenicity is typical for PDD and DLB.However, size, asymmetry and relation of SN hyperechogenicity to age at disease onset discriminate PDD from DLB.     

Midbrain transcranial sonography in Korean patients with Parkinson's disease.

Transcranial sonography (TCS) is potentially useful for the diagnosis of Parkinson's disease (PD). However, studies on TCS have so far been restricted to European populations. To investigate the efficacy of TCS in Korean PD patients and its correlation with the clinical features, we carried out midbrain TCS in 43 PD patients and 35 normal controls and evaluated the area of the substantia nigra (SN) hyperechogenicity and its ratio to the area of the whole midbrain. In 16 subjects (21%), TCS was unsuccessful due to insufficient acoustic temporal bone windows. The mean area of bilateral SN hyperechogenicity and its ratio to the midbrain area were greater in the PD patients than that in the controls (P < 0.01). In the PD patients, the area of SN hyperechogenicity and its ratio to the individual midbrain area were moderately correlated with the PD duration (r = 0.526 and 0.536, P = 0.01, respectively) but not with the age, UPDRS motor scores or H-Y stage. There was no difference in the SN hyperechogenicity between the tremor-dominant, akinetic-rigid, and mixed-type PD patients. In conclusion, midbrain TCS is an effective diagnostic tool for detecting PD in the Korean population. However, it does not reflect the severity or phenotypes of parkinsonism.     

Transcranial sonography in Wilson's disease

Transcranial sonography (TCS) has been recently recognized as a reliable and sensitive tool in detecting basal ganglia (BG) abnormalities in several movement disorders, where different patterned hyperechogenic lesions were demonstrated. The aim of this study was to investigate changes in TCS in a larger group of clinically stable patients with Wilson's disease (WD), and to correlate them with demographic and clinical data. TCS was conducted in 54 consecutive, clinically stable patients with WD who were classified as predominantly neurologic or hepatic form of the disease and were adequately assessable by TCS from both sides. TCS revealed significantly higher prevalence of SN (p = 0.007) and LN hyperechogenicity (0.001) in WD patients when compared to controls. Moderate to marked SN hyperechogenicity was found in 31.5% of WD patients (in 42% and 7% of those with neurologic and hepatic form of WD, respectively) and in 8% of healthy controls. Disease severity correlated with the hyperechogenicity of SN (r = 0.303; p = 0.029) and with the width of the third ventricle (r = 0.351; p = 0.011). There is only one report of TCS in WD previous to our study. Both studies proved the ability of TCS to detect accumulation of copper and probably other trace metals, such as iron and manganese, in the BG of WD patients.     

Transcranial brain sonography findings in clinical subgroups of idiopathic Parkinson's disease.

To investigate whether transcranial brain sonography (TCS) discriminates different courses of idiopathic Parkinson's disease (PD), 101 patients with clinically definite PD were studied. In four patients, TCS was not possible due to insufficient acoustic temporal bone windows. Substantia nigra (SN) hyperechogenicity was found in 96% of assessable patients. Larger SN echogenic size correlated with younger age at PD onset (Spearman correlation, r = -0.383; P < 0.001), but not with age, PD duration, or severity. Marked bilateral SN hyperechogenicity indicated early-onset rather than late-onset PD, and akinetic-rigid (AR) or mixed-type (MX) PD rather than tremor-dominant PD. SN echogenic sizes were larger contralateral to the clinically more affected side in AR PD and MX PD patients. Reduced echogenicity of brainstem raphe was associated with depression (RR = 1.61; 95% CI = 1.05-2.46; P = 0.044) but not with other clinical features. Caudate nucleus hyperechogenicity was, independently from PD duration, related to drug-induced psychosis (RR = 2.40; CI = 1.36-4.22; P = 0.001), but not to motor fluctuations. Lenticular nucleus hyperechogenicity indicated AR PD rather than tremor-dominant PD (RR = 1.44; CI = 1.11-1.86; P = 0.040). Frontal horn dilatation > 15.4 mm (mean of bilateral measurements) indicated increased risk of dementia (RR = 4.11; CI = 1.51-11.2; P = 0.001). We conclude that TCS displays characteristic changes of deep brain structures in different clinical manifestations of PD.     

Transcranial imaging of substantia nigra hyperechogenicity in a Taiwanese cohort of Parkinson's disease.

Transcranial Doppler imaging (TCDI) has been used as a noninvasive diagnostic tool to differentiate Parkinson's disease (PD) from atypical parkinsonism by detecting hyperechogenicity in the substantia nigra (SN). To our knowledge, no TCDI data are available for Asian populations, and TCDI sensitivity is uncertain across populations. Early-onset PD (EOPD) represents a specific PD subtype based on clinical features and pathogenic mechanisms. It is not known if EOPD patients have abnormal echogenicity in SN comparable to late-onset PD (LOPD) patients. We assessed the area of SN hyperechogenicity (hyper-SN) and a ratio of hyper-SN over ipsilateral midbrain (S/M ratio) with TCDI in 164 healthy Taiwanese, 40 EOPD patients, and 40 LOPD patients. The upper 95th percentile values for hyper-SN and S/M ratio were 0.20 cm(2) and 0.07. Our results indicate that S/M ratio is a more sensitive measure than hyper-SN in diagnosing PD. Approximately 92.5% of the LOPD patients and 57.5% of the EOPD patients had S/M ratios >/= 0.07. Enlarged hyperechogenicity of SN is a common finding in LOPD, but not in EOPD. Iron-independent mechanisms of SN cell degeneration in EOPD distinct from that in LOPD might contribute to the sonographic findings.     

Echogenicity of the substantia nigra in Parkinson's disease and its relation to clinical findings

Recently an increased echogenicity of the substantia nigra (SN) in patients with Parkinson's disease (PD) was demonstrated by transcranial ultrasound (TCS). In this study we set out to compare SN echogenicitiy with disease characteristics (time of onset, duration, toxin exposure) in a large patients sample. Patients' history and exposure to toxins were recorded from 112 PD patients who underwent a thorough neurological examination including assessment of disease stage according to Hoehn and Yahr and CURS (Columbia University Rating Scale). Personality was assessed according to the Freiburg Personality Inventory. In all patients the area of SN echogenicity was encircled and measured by TCS. All except 9 patients had hyperechogenic SN areas exceeding the mean plus standard deviation values of an age matched control group (0.19cm²). The age of disease onset was lower in patients who displayed an area of SN echogenicity above this value. The area of SN echogenicity was larger contralateral to the side with more severe symptoms. None of the other characteristics correlated with ultrasound findings. We conclude that SN hyperechogenicity is a typical finding in PD. The cause of hyperechogenicity is so far unknown. Investigation of the underlying reason might disclose a pathogenic factor in PD. Received: 13 November 2000 / Received in revised form: 24 January 2001 / Accepted: 19 February 2001     

Relationship of substantia nigra hyperechogenicity to risk of Lewy body disease in idiopathic REM sleep behavior disorder patients: a longitudinal study

BackgroundWe examined the relationship between baseline substantia nigra (SN) echogenicity on transcranial sonography (TCS) images and medium-to long-term developments of Parkinson's disease (PD) and dementia with Lewy bodies (DLB) in idiopathic RBD (IRBD) patients.MethodsFrom 2007–2009, TCS and odor identification tests were performed in 34 consecutive IRBD patients (67.9 ± 6.1 years). A medical chart review was conducted in August 2019 to investigate the development of PD or DLB.ResultsOf the 34 IRBD patients, 14 (41.2%) showed SN hyperechogenicity (SN+) on TCS at baseline. There were no significant differences in age, Unified Parkinson's Disease Rating Scale (UPDRS) score, Mini-Mental State Exam (MMSE) score, or odor identification (OSIT-J) score between the SN+ and SN normoechogenicity (SN−) groups at baseline. The phenoconversion rate was 57.4% (n = 8) in the SN+ group (mean 5.8 years from baseline TCS), and 25.0% (n = 5) in the SN− group (mean 8.6 years from baseline TCS). Of those with phenoconversions, there were five PD patients and three DLB patients in the SN+ group, and one PD patient and four DLB patients in the SN− group. The SN+ group had a higher estimated risk for disease development than the SN− group. The coexistence of SN+ with functional anosmia may predict a short-term Lewy body disease onset risk.ConclusionA single baseline TCS for IRBD patients may be a suitable test for screening and predicting groups at high-risk for developing PD or DLB. This may help to select appropriate IRBD patients in clinical trials for disease modifying therapy to prevent progression to PD or DLB.     

Substantia nigra echogenicity is normal in non-extrapyramidal cerebral disorders but increased in Parkinson's disease

Summary. Transcranial sonography (TCS) revealed substantia nigra (SN) hyperechogenicity in idiopathic Parkinson's disease (IPD). To further evaluate specificity of this finding, we examined 30 IPD patients and 30 age-matched subjects with non-extrapyramidal cerebral disorders (NED). All IPD patients showed a SN hyperechogenicity, in 17 it was bilateral and in 13 unilateral. 7 NED patients had a SN hyperechogenicity, in all it was unilateral, confirming previous results in healthy subjects. Bilateral SN hyperechogenicity indicates IPD and normal SN echogenicity indicates NED. In 30% of patients TCS does not distinguish between IPD and NED. Data further support the assumption that bilateral SN hyperechogenicity is specific for IPD. Received April 30, 2001; accepted October 17, 2001     

Preclinical substantia nigra dysfunction in rapid eye movement sleep behaviour disorder

Objectives

Transcranial sonography (TCS) has been shown to reveal hyperechogenicity of the substantia nigra (SN) in people with Parkinson’s disease and in approximately 10% of healthy subjects. It is hypothesized that SN hyperechogenicity in healthy subjects and patients with idiopathic rapid eye movement (REM) sleep behaviour disorder (iRBD) patients is a marker of vulnerability for Parkinson’s disease.

Methods

TCS and positron emission tomography (PET) with 6-[¹⁸F] fluoro-meta-tyrosine (FMT), which can assess the level of the presynaptic dopaminergic nerve, were performed in 19 male patients with iRBD, mean age 66.4 (standard deviation [SD] 4.9) years, to assess nigrostriatal function.

Results

Nine patients had pathological SN hyperechogenicity (mean age 66.8 [SD 3.9] years; 0.31 [SD 0.12] cm²) and 10 patients did not have SN hyperechogenicity (mean age 66.0 [SD 5.8] years; 0.11 [SD 0.06] cm²). FMT uptake at the putamen and caudate was significantly lower in iRBD patients with pathological SN hyperechogenicity compared with those without SN hyperechogenicity. However, no correlation was found between SN echogenicity and FMT uptake. This is in conflict with previous findings which showed that subjects with hyperechogenicity had lower FMT uptake in the striatum.

Conclusion

Pathological hyperechogenic alterations in the SN in patients with iRBD may suggest the existence of preclinical SN dysfunction as determined by FMT-PET.     

Transcranial sonography in movement disorders: an interesting tool for diagnostic perspectives

Transcranial sonography has become an important tool for the diagnosis of various movement disorders. In most patients with idiopathic Parkinson disease, a markedly hyperechogenic substantia nigra (SN) was detected on at least one side. We have highlighted the sonographic features that might help the differential diagnosis of PD and other movement disorders. Our investigation involved 30 patients (age 45–85 years) with idiopathic Parkinson disease, 2 multiple system atrophy, 3 progressive supranuclear palsy and 2 patients with restless legs syndrome. In accordance with several previous studies, we detected hyperechogenicity of the SN by TCS in 90 % of patients with idiopathic Parkinson disease. Subjects with a marked severity disease had a larger extent of the hyperechogenic SN signal. All progressive supranuclear palsy patients had an enlarged third ventricle and, in two cases, we observed the presence of hyperechoic areas in the lentiform nucleus. This last ultrasonographic feature was also seen in our patients with multiple system atrophy. TCS abnormalities of the SN, midbrain raphe and basal ganglia are characteristics of several movement and affective disorders. These features are less easily detected by other techniques, such as CT and MRI, which enable the exclusion of structural lesions, such as tumours and multi-infarct disease, because the physical principle differs from other imaging methods.