Lenticular Nucleus Hyperechogenicity Research Articles

Differentiating progressive supranuclear palsy from other movement disorders using transcranial sonography: a systematic review and meta-analysis.

Progressive supranuclear palsy (PSP) is an atypical parkinsonism that presents with different phenotypes. There are still no validated diagnostic biomarkers for early diagnosis of PSP. Transcranial sonography (TCS) is a promising tool in the differential diagnosis of parkinsonian disorders; however, there are no systematic investigations about the application of TCS in PSP patients. Therefore, we performed a systematic review and meta-analysis to discuss the role of TCS in diagnosing PSP by systematically searching PubMed, Cochrane Library, Chinese National Knowledge Infrastructure and Wan Fang databases. Of 66 obtained records, 16 articles, including 366 patients with PSP, were included. Our results showed the estimated random-effects pooled prevalence of substantia nigra hyperechogenicity in patients with PSP was 22% (95% CI 12-32%), lenticular nucleus hyperechogenicity was 70% (95% CI 52-82%), and enlarged third ventricle was 71% (95% CI 55-85%). Additionally, a normal echogenicity substantia nigra in TCS showed 70% sensitivity (95% CI 56-81%) and 86% specificity (95% CI 75-86%) to differentiate PSP from Parkinson's disease. In conclusion, TCS is an important supplementary biomarker for diagnosing PSP. At the same time, the diagnostic value of TCS in discriminating PSP from other atypical parkinsonism and between different PSP phenotypes needs further exploration.

Transcranial sonography changes in heterozygotic carriers of the ATP7B gene

PurposeWilson’s disease (WD) is an autosomal recessive disorder of ATP7B gene leading to impaired copper metabolism. Brain imaging, such as magnetic resonance (MR) and transcranial sonography (TCS) in WD patients, shows changes mostly in the basal ganglia. Heterozygotic carriers of one faulty ATP7B gene should not exhibit symptoms of WD, but one in three heterozygotes has copper metabolism abnormalities. This study examined heterozygote ATP7B mutation carriers using TCS to assess any basal ganglia changes compared with healthy controls.MethodsHeterozygote carriers and healthy volunteers underwent the same standard MR and TCS imaging protocols. Heterozygotes were followed for 5 years and monitored for the development of neurological symptoms.ResultsThe study assessed 34 heterozygotes (21 women), with mean age of 43 years (range of 18 to 74 years) and 18 healthy controls (13 women), with mean age of 47 years (range of 20 to 73 years). Bilateral lenticular nucleus (LN) hyperechogenicity was found in 25 heterozygotes, but none of the controls (p < 0.001). Bilateral substantia nigra (SN) hyperechogenicity was found in 8 heterozygotes and one control; another 3 heterozygotes had unilateral SN hyperechogenicity (p = 0.039 for the right; p = 0.176 for the left). Heterozygotes had larger SN area on both sides compared with controls (p = 0.005 right; p = 0.008 left).ConclusionsSN and LN hyperechogenicity were more frequent in heterozygotes than in controls, probably due to copper accumulation, but it remains unknown if this predisposes to brain neurodegeneration.

Transcranial sonography changes in patients with Wilson's Disease during de-coppering therapy.

Wilson's Disease (WD) is an inherited disorder of impaired hepatic copper metabolism that leads to copper accumulation in organs such as the liver and brain. Using transcranial sonography (TCS), we investigated brain changes in WD patients during de-coppering treatment. Forty-one consecutive treatment-naïve WD patients were classified as having hepatic (WDh; n = 20) or neurological WD (WDn; n = 21) based on symptoms at diagnosis; all patients received either D-penicillamine or zinc sulfate and were observed for 24 months. TCS was performed at regular intervals from study entry (month 0) to month 24. At study entry, bilateral lenticular nucleus (LN) hyperechogenicity was found in 18 patients with WDn and in nine with WDh (p = 0.006). Substantia nigra (SN) hyperechogenicity was found in nine patients with WDn) and four with WDh (p = ns). After 24 months of treatment, bilateral LN hyperechogenicity was still present in 17 patients with WDn and 14 with WDh (p = ns). SN hyperechogenicity was present in one patient with WDn and two with WDh (p = ns). The decrease in the number of patients with SN hyperechogenicity was significant in the WDn group (p < 0.05). LN hyperechogenicity is the most common TCS abnormality in WD patients, and was observed despite two years of de-coppering treatment. SN hyperechogenicity was less common, and decreased after treatment introduction.

Transcranial sonography in atypical parkinsonism: How reliable is it in real clinical practice? A multicentre comprehensive study

IntroductionSubstantia nigra hyperechogenicity (SN+) in transcranial sonography (TCS) is frequent in Parkinson's disease (PD), while lenticular nucleus hyperechogenicity (LN+) and 3rd ventricle enlargement (3V+) are typical of Atypical Parkinsonisms (AP). However, there are no studies assessing the diagnostic yield of all TCS biomarkers in the three AP (progressive supranuclear palsy, PSP, multiple system atrophy, MSA, corticobasal degeneration, CBD). Previous references lack homogeneous criteria and data are incomprehensive. MethodsAnalysis of TCS performed in routine clinical practice in AP and PD patients from two tertiary hospitals. Expert recommendations were strictly followed. Previous literature was critically analysed. Results155 AP (98 PSP, 40 MSA, 14 CBD), 254 PD, 145 control subjects were included. We confirmed good sensitivity for SN+ in PD (80%), but specificity was lower than reported (61%). LN+ and 3V + had moderate sensitivity for AP and PSP diagnosis respectively (65%, 63%), but specificity was higher than reported (87%, 91%). We confirmed high specificity and positive predictive value of the combination SN/LN (98%, 93% AP; 83%, 86% PD). The combinations of two or three echofeatures, previously unreported, showed high specificity but lower sensitivity (SN/3V: 75% sensitivity, 87% specificity PD; 42% sensitivity, 98% specificity PSP) (SN + LN+: 79% sensitivity, 86% specificity CBD) (SN/3V/LN: 67% sensitivity, 89% specificity PD; 29% sensitivity, 99% specificity PSP; 41% sensitivity, 95% specificity MSA; 57% sensitivity 91% specificity CBD). ConclusionsWe present a large comprehensive study of TCS, confirming its usefulness and certain limitations in AP diagnosis. Adherence to consensus criteria is critical to implement TCS for clinical and research purposes.

Sonographic Alteration of Basal Ganglia in Different Forms of Primary Focal Dystonia: A Cross-sectional Study.

Background:Few studies have addressed whether abnormalities in the lenticular nucleus (LN) are characteristic transcranial sonography (TCS) echo features in patients with primary dystonia. This study aimed to explore alterations in the basal ganglia in different forms of primary focal dystonia.Methods:cross-sectional observational study was performed between December 2013 and December 2014 in 80 patients with different forms of primary focal dystonia and 55 neurologically normal control subjects. TCS was performed in patients and control subjects. Multiple comparisons of multiple rates were used to compare LN hyperechogenicity ratios between control and patient groups.Results:Thirteen individuals were excluded due to poor temporal bone windows, and two subjects were excluded due to disagreement in evaluation by sonologists. Totally, 70 patients (cervical dystonia, n = 30; blepharospasm, n = 30; oromandibular dystonia, n = 10) and 50 normal controls were included in the final analysis. LN hyperechogenicity was observed in 51% (36/70) of patients with primary focal dystonia, compared with 12% (6/50) of controls (P < 0.001). Substantia nigra hyperechogenicity did not differ between the two groups. LN hyperechogenicity was observed in 73% (22/30) of patients with cervical dystonia, a greater prevalence than in patients with blepharospasm (33%, 10/30, P = 0.002) and oromandibular dystonia (40%, 4/10, P = 0.126). LN hyperechogenicity was more frequently observed in patients with cervical dystonia compared with controls (73% vs. 12%, P < 0.001); however, no significant difference was detected in patients with blepharospasm (33% vs. 12%, P = 0.021) or oromandibular dystonia (40% vs. 12%, P = 0.088).Conclusions:LN hyperechogenicity is more frequently observed in patients with primary focal dystonia than in controls. It does not appear to be a characteristic TCS echo feature in patients with blepharospasm or oromandibular dystonia.

Sonography for diagnosis of Parkinson disease-from theory to practice: a study on 300 participants.

Hyperechogenicity of the substantia nigra on transcranial sonography is used for diagnosing Parkinson disease (PD). Cutoff values for the substantia nigra echogenic area, defining substantia nigra hyperechogenicity, vary among ultrasound systems from different manufacturers. In this study we wanted to determine the cutoff criterion for a Toshiba (Tokyo, Japan) system and to assess its diagnostic value. Three hundred participants (controls, n = 138; patients with PD, n = 105; and patients with essential tremor, n = 57) underwent transcranial sonography following a standardized protocol. The substantia nigra was assessable in 92.7% of all participants. The substantia nigra echogenic area (larger of bilateral measurements) was larger in patients with PD (mean ± SD, 0.24 ± 0.05 cm(2)) than controls (0.14 ± 0.05 cm(2); P < .001) and patients with essential tremor (0.14 ± 0.04 cm(2); P < .001). Substantia nigra echogenicity was larger in male participants (0.20 ± 0.07 cm(2)) than female participants (0.15 ± 0.06 cm(2); P< .001). Age did not correlate with substantia nigra echogenicity in any group. Frontal horn width was larger and lenticular nucleus hyperechogenicity and a discontinuous raphe were more frequent in the PD group than the other groups. On multivariate analysis, only substantia nigra hyperechogenicity was associated with the diagnosis of PD. The 90th-percentile substantia nigra echogenic area in the control group, which defined marked substantia nigra hyperechogenicity, also represented the optimum cutoff value for discrimination of PD from non-PD participants on receiver operating characteristic curve analysis (area under the curve, 0.913; Youden index, 0.73). This cutoff value (≥0.21 cm(2), larger of bilateral measurements) yielded sensitivity of 83% and specificity of 90% for the diagnosis of PD. Transcranial sonography shows good diagnostic validity for diagnosis of PD when implemented according to a strictly standardized protocol.

Transcranial brain parenchymal sonography in neurodegenerative and psychiatric diseases.

Transcranial sonography is a highly sensitive noninvasive sonographic method for detection of early and specific echogenic changes in basal ganglia of patients with some neurodegenerative diseases. Transcranial sonography showed substantia nigra hyperechogenicity as a typical echo feature in idiopathic Parkinson disease and lenticular nucleus hyperechogenicity as a characteristic finding in atypical parkinsonian syndromes. Brain stem raphe hypoechogenicity or interruption has been shown to be highly prevalent in patients with unipolar depression as well as depression associated with certain neurodegenerative diseases. Transcranial sonography also revealed basal ganglia hyperechoic changes in movement disorders with trace metal accumulation such as Wilson disease, some entities of neurodegeneration with brain iron accumulation, as well as several forms of spinocerebellar ataxia. Transcranial sonography is a valuable neuro imaging method for early and differential diagnosis and follow-up of patients with neurodegenerative and psychiatric diseases.

Basal ganglia echogenicity in tauopathies.

Accumulating data confirm the usefulness of transcranial sonography (TCS) in the diagnosis of Parkinson’s disease. The relevance of basal ganglia abnormalities depicted by TCS in atypical parkinsonian syndromes still needs further assessment. In the present study, 20 patients with progressive supranuclear palsy (PSP) and 13 patients with corticobasal syndrome (CBS) were studied with the use of transcranial sonography. Echogenicity of the substantia nigra (SN) and lenticular nucleus (LN) were assessed. 0/20 patients with PSP and 8/12 (66.6 %) patients with CBS were characterized with SN hyperechogenicity. LN hyperechogenicity was observed in 9/20 patients diagnosed with PSP and 0/11 of CBS patients. The combination of SN isoechogenicity and LN hyperechogenicity reached 100 % sensitivity and positive predictive value for the diagnosis of PSP. The results of this study point out that CBS has to be taken into consideration when SN hyperechogenicity is depicted in a patient with parkinsonian syndrome. Normal echogenicity of the SN coexisting with LN hyperechogenicity practically excludes CBS.

Lenticular nucleus hyperechogenicity in Wilson’s disease reflects local copper, but not iron accumulation

In patients with Wilson's disease (WD) transcranial brain sonography typically reveals areas of increased echogenicity (hyperechogenicity) of the lenticular nucleus (LN). Correlation with T2-hypointensity on magnetic resonance images suggested that LN hyperechogenicity in WD is caused by trace metal accumulation. Accumulation of both, copper and iron, in the brain of WD patients has been reported. The present study was designed to elucidate whether LN hyperechogenicity in WD reflects accumulation of copper or iron. Post-mortem brains of 15 WD patients and one non-WD subject were studied with ultrasonography in an investigator-blinded fashion. LN hyperechogenicity was measured planimetrically by manual tracing as well as using digitized image analysis. The putaminal copper content was determined in samples of 11 WD brains and the non-WD brains using inductively coupled plasma mass spectrometry, and iron content was assessed using flame atomic absorption spectroscopy. LN was normal on ultrasonography only in the non-WD brain, but abnormal (hyperechogenic) in all WD brains. Digitized image analysis measures of LN hyperechogenicity and, by trend, manual measures correlated with putaminal copper content (Pearson test; digitized: r = 0.77, p = 0.04; manual: r = 0.57, p = 0.051) but not with iron content (each, p > 0.18). LN hyperechogenicity measures were unrelated to age at death of patients, age at onset of WD, WD duration, age of brain specimen, serum copper or serum ceruloplasmin (each, p > 0.1). We conclude that LN hyperechogenicity in WD reflects copper, but not iron accumulation. Further studies are warranted to elucidate the use of transcranial brain sonography for monitoring therapeutic effects of chelating agents in WD patients.

Sonographic detection of basal ganglia abnormalities in spasmodic dysphonia

Abnormalities of the lenticular nucleus (LN) on transcranial sonography (TCS) are a characteristic finding in idiopathic segmental and generalized dystonia. Our intention was to study whether TCS detects basal ganglia abnormalities also in spasmodic dysphonia, an extremely focal form of dystonia. Transcranial sonography of basal ganglia, substantia nigra and ventricles was performed in 14 patients with spasmodic dysphonia (10 women, four men; disease duration 16.5 ± 6.1 years) and 14 age- and sex-matched healthy controls in an investigator-blinded setting. Lenticular nucleus hyperechogenicity was found in 12 spasmodic dysphonia patients but only in one healthy individual (Fisher's exact test, P < 0.001) whilst other TCS findings did not differ. The area of LN hyperechogenic lesions quantified on digitized image analysis correlated with spasmodic dysphonia severity (Spearman test, r = 0.82, P < 0.001). Our findings link the underlying pathology of spasmodic dysphonia to that of more widespread forms of dystonia.

Transcranial sonography of the cerebral parenchyma: Update on clinically relevant applications

Transcranial B-mode sonography (TCS) is a neuroimaging technique that displays the brain parenchyma and the intracranial ventricular system through the intact skull. Sophisticated TCS systems can currently achieve a higher image resolution of echogenic deep brain structures than MRI under clinical conditions. The different imaging principle of TCS allows visualization of characteristic changes in several neurodegenerative diseases that can hardly be visualized with other imaging methods, such as substantia nigra hyperechogenicity in Parkinson's disease (PD), and lenticular nucleus hyperechogenicity in atypical Parkinsonian syndromes. The intracranial ventricular system and a midline shift due to space-occupying brain lesions (e.g., intracerebral hematomas) are reliably assessed with TCS. The present paper reviews recent studies on diagnostic TCS applications that, as a result, can be recommended for routine use in clinical practice. These applications include the bedside monitoring of space-occupying lesions in acute stroke patients, the early and differential diagnosis of PD, and the postoperative position control of deep brain stimulation electrodes. Novel technologies such as in-time fusion of TCS with MRI scans, automated detection of intracranial target structures, and improved 3D-image analysis promise an even wider application of TCS in the coming years.

Transcranial sonography: Brazilian experience

entitled “Transcranial sonography as a diagnostic tool for Parkinson’s disease”. These authors aimed to establish the per-centage of subjects with adequated temporal bone windows for transcranial sonography (TCS) studies and also to revisit in a Brazilian sample the hypothesis that increased echogenic size of substantia nigra (SN) might distinguish Parkinson’s disease (PD) patients from healthy individuals. We would like to congratu -late the authors for the original idea to assess the Brazilian sub -jects with a case-control study. The authors found that 10.8% of the subjects had insufficient temporal acoustic bone windows, which is in line with previous data. Also, they identified hyper -echogenicity of the SN in 88.2% of PD patients, against 14.2% of control group individuals. In addition, the authors pointed out that “in Brazil there is no systematic study on transcranial sonography”. Actually, this is an appropriate opportunity to report that our group has sys -tematically studied TCS findings in some neurological dis -eases, such as spinocerebellar ataxias (SCA) and restless legs syndrome (RLS) (Figure). We have recently published a study entitled “Transcranial sonography findings in spinocerebellar ataxia type 3 (Machado-Joseph disease): a cross sectional study”, in which we conducted TCS studies in 30 patients with clinical and molecular proven Machado-Joseph disease (MJD), and used 44 healthy subjects as control group, and found that hiperecho -genicity of the SN was more frequent in MJD patients (75%) than in the control group subjects (18%), and that brain atrophy and lenticular nucleus hyperechogenicity occurred more frequently in MJD group. Two out of 30 MJD patients were excluded from the study due to limitation of acoustic temporal bone windows

Transcranial sonography findings in spinocerebellar ataxia type 3 (Machado–Joseph disease): A cross-sectional study

Few studies on transcranial brain sonography have been performed in hereditary and non-hereditary ataxias. The objective of the present study was to report transcranial brain sonography findings in a sample of clinically and molecularly proven Machado–Joseph disease patients and to compare these data against those of an age- and gender-matched control group. A cross-sectional study on transcranial brain sonography was conducted in 30 Machado–Joseph disease patients. Transcranial brain sonography was performed by an experienced sonographer blinded to the clinical, genetic, and neuroimaging data. The results were compared with those of a control group of 44 healthy subjects matched for age and gender. The sonographic findings were also correlated with clinical features and genetic data in Machado–Joseph disease group. A significantly higher frequency of substantia nigra and lenticular nucleus hyperechogenicity was found in the Machado–Joseph disease group compared to an age- and gender-matched healthy control group (p<0.001). The substantia nigra echogenic area proved to be the best predictor for differentiating cases from controls. Third and lateral ventricles were significantly larger in the Machado–Joseph disease patients than in the control subjects. No significant correlations were found between transcranial brain sonography findings and Machado–Joseph disease demographic/clinical data. Transcranial brain sonography findings in Machado–Joseph disease patients differed significantly to those in age- and gender-matched controls. Substantia nigra hyperechogenicity occurred frequently in Machado–Joseph disease patients and was found to be the best predictor for differentiating cases from controls. Additionally, this data describes the occurrence of brain atrophy in Machado–Joseph disease group.

Sonographic Alteration of Lenticular Nucleus in Focal Task-Specific Dystonia of Musicians

Background/Aims: In distinct movement disorders, transcranial sonography detects alterations of deep brain structures with higher sensitivity than other neuroimaging methods. Lenticular nucleus hyperechogenicity on transcranial sonography, thought to be caused by increased local copper content, has been reported as a characteristic finding in primary spontaneous dystonia. Here, we wanted to find out whether deep brain structures are altered in task-specific dystonia. Methods: The frequency of sonographic brainstem and basal ganglia changes was studied in an investigator-blinded setting in 15 musicians with focal task-specific hand dystonia, 15 musicians without dystonia, and 15 age- and sex-matched nonmusicians without dystonia. Results: Lenticular nucleus hyperechogenicity was found in 12 musicians with task-specific dystonia, but only in 3 nondystonic musicians (Fisher’s exact test, p = 0.001) and 2 nonmusicians (p < 0.001). The degree of lenticular nucleus hyperechogenicity in affected musicians correlated with age, but not with duration of music practice or duration of dystonia. In 2 of 3 affected musicians with normal echogenic lenticular nucleus, substantia nigra hyperechogenicity was found. Conclusions: Our findings support the idea of a pathogenetic link between primary spontaneous and task-specific dystonia. Sonographic basal ganglia alteration might indicate a risk factor that in combination with extensive fine motor training promotes the manifestation of task-specific dystonia.

Transcranial Brain Sonography Findings in Discriminating Between Parkinsonism and Idiopathic Parkinson Disease

In several pilot studies, transcranial brain sonography findings of substantia nigra and lenticular nucleus discriminated between idiopathic Parkinson disease (PD) and atypical parkinsonian disorders. To study the use of transcranial brain sonography in excluding the diagnosis of idiopathic PD in patients with sporadic parkinsonism. All patients with parkinsonism admitted to our movement disorder clinic from January 1, 2003, through December 31, 2005, who fulfilled clinical diagnostic criteria for definite PD, probable parkinsonian variant of multiple-system atrophy (MSA-P), or probable progressive supranuclear palsy (PSP) were prospectively studied with transcranial brain sonography by an investigator blinded to clinical diagnoses. Patients Eligible patients included 138 with sporadic idiopathic PD (82 men and 56 women; mean +/- SD age, 67.1 +/- 9.8 years; mean +/- SD disease duration, 7.5 +/- 6.3 years; mean +/- SD motor score on the Unified Parkinson Disease Rating Scale, 32.6 +/- 18.1), 21 with MSA-P (10 men and 11 women; mean +/- SD age, 65.4 +/- 9.5 years; mean +/- SD duration of disease, 3.1 +/- 2.0 years; mean +/- SD motor score, 33.5 +/- 16.1), and 22 with PSP (13 men and 9 women; mean +/- SD age, 71.2 +/- 5.5 years; mean +/- SD duration of disease, 3.4 +/- 2.4 years; mean +/- SD motor score, 46.2 +/- 18.9). In 7 patients, transcranial brain sonography was not possible owing to insufficient temporal acoustic bone windows. Sensitivity, specificity, and predictive value of transcranial brain sonography in indicating an atypical parkinsonian syndrome rather than idiopathic PD in patients with sporadic parkinsonism. Normal echogenic substantia nigra indicated MSA-P rather than PD (sensitivity, 90%; specificity, 98%; positive predictive value, 86%), whereas third-ventricle dilatation of more than 10 mm in combination with lenticular nucleus hyperechogenicity indicated PSP rather than PD (sensitivity, 84%; specificity, 98%; positive predictive value, 89%). Normal echogenic substantia nigra combined with lenticular nucleus hyperechogenicity indicated MSA-P or PSP (sensitivity, 59%; specificity, 100%; positive predictive value, 100%). In parkinsonism with age at onset younger than 60 years, normal echogenic substantia nigra alone indicated MSA-P or PSP (sensitivity, 75%; specificity, 100%; positive predictive value, 100%). Distinct transcranial brain sonography findings can exclude the diagnosis of PD in patients with sporadic parkinsonism. Sonographic discrimination of atypical parkinsonian syndromes from PD is clearer in patients with onset of parkinsonism at younger than 60 years.

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.

Sonographic detection of basal ganglia lesions in asymptomatic and symptomatic Wilson disease

To investigate whether transcranial brain parenchyma sonography (TCS) detects basal ganglia abnormalities in asymptomatic and symptomatic patients with Wilson disease (WD) and whether findings correlate with disease severity. Twenty-one patients with WD with (n = 18) or without (n = 3) neurologic symptoms were investigated. Disease severity was assessed by three independent neurologists using a WD rating scale (WDRS) with the items dysarthria, akinesia, ataxia, tremor, and dystonia; the raters' median score was used for further analysis. Basal ganglia TCS was performed according to a standardized protocol. TCS revealed lenticular nucleus (LN) hyperechogenicity in all assessable neurologically symptomatic and in two of the three asymptomatic patients. Size of LN hyperechogenic area correlated with the WDRS score (Spearman correlation, rho = 0.604, p = 0.006), as did the size of thalamus hyperechogenic area (n = 7, rho = 0.891, p = 0.007), the width of third ventricle (n = 21, rho = 0.613, p = 0.003), and the width of lateral ventricles (n = 20, rho = 0.642, p < 0.001). Substantia nigra hyperechogenicity, detected in 10 patients, did not correlate with disease severity. There was no correlation between age at disease onset or disease duration and any TCS finding. Of the 19 patients with LN hyperechogenicity, only 12 showed abnormal LN on MRI. Transcranial brain parenchyma sonography (TCS) detects lenticular nucleus hyperechogenicity, likely to be caused by copper accumulation, in neurologically symptomatic and asymptomatic Wilson disease (WD). TCS findings correlate with disease severity. TCS appears a promising tool for disease monitoring in WD.

Lenticular nucleus lesion in idiopathic dystonia detected by transcranial sonography.

We report the transcranial sonography (TCS) findings of the basal ganglia in 86 patients with dystonic disorders including idiopathic dystonia (facial, cervical, upper limb, and generalized dystonia), drug-induced tardive dystonia, dopa-responsive dystonia, and kinesigenic dystonia. The TCS was focused on alterations of the lenticular, caudate, raphe nuclei, and the thalamus. Seventy-five percent of patient with idiopathic cervical and 83% of those with idiopathic upper limb dystonia had a hyperechogenic lesion of the middle segment of the lenticular nucleus on the side opposite to the clinical dystonic symptoms. The ipsilateral side was also affected in 20%. In facial dystonia, only one-third of the patients revealed lenticular nucleus lesions. The mean area of the lenticular nucleus lesion opposite to the clinically affected side was 30 mm2 in cervical dystonia, 17 mm2 in upper limb dystonia, and 7.5 mm2 in facial dystonia. These lenticular abnormalities were significantly more frequent (p < 0.001) and their areas were significantly greater (p < 0.001) compared with a control group of 50 patients afflicted with radiculopathy. There was a significant correlation of the severity of symptoms with the intensity of lenticular nucleus hyperechogenicity in patients with cervical and upper limb dystonia (p < 0.05). Increased caudate nucleus echogenicity was present in 20% of patients with cervical and upper limb dystonia, mostly contralateral to the clinically affected side and raphe abnormalities were present in 7% of all patients with idiopathic dystonia. In contrast, there were no abnormalities of the lenticular nucleus or thalamus in nonidiopathic dystonias. We conclude that idiopathic dystonia is associated with lesions in the basal ganglia, particularly the lenticular nucleus, that can be visualized by TCS. An alteration of the basal ganglia matrix may be the pathologic basis of idiopathic dystonia with secondary affliction of striatopallidothalamic pathways.