丘脑及基底节区生殖细胞瘤

报告５例经手术及病理证实的丘脑或基底节区生殖细胞瘤的临床及影像学特点。其发生率占同期所有颅内生殖细胞瘤的６％。５例均为男性。主要临床症状为偏侧肢体无力，两例检查发现精神异常及性早熟。与松果体区及鞍上区生殖细胞瘤的ＣＴ及ＭＲ表现相比，本组丘脑或基底节区生殖细胞瘤的主要特点在瘤体的大小及密度信号、瘤内出血及相邻结构的变化几方面。     

Functional anatomy of thalamus and basal ganglia

THALAMUS: The human thalamus is a nuclear complex located in the diencephalon and comprising of four parts (the hypothalamus, the epythalamus, the ventral thalamus, and the dorsal thalamus). The thalamus is a relay centre subserving both sensory and motor mechanisms. Thalamic nuclei (50-60 nuclei) project to one or a few well-defined cortical areas. Multiple cortical areas receive afferents from a single thalamic nucleus and send back information to different thalamic nuclei. The corticofugal projection provides positive feedback to the "correct" input, while at the same time suppressing irrelevant information. Topographical organisation of the thalamic afferents and efferents is contralateral, and the lateralisation of the thalamic functions affects both sensory and motoric aspects. Symptoms of lesions located in the thalamus are closely related to the function of the areas involved. An infarction or haemorrhage thalamic lesion can develop somatosensory disturbances and/or central pain in the opposite hemibody, analgesic or purely algesic thalamic syndrome characterised by contralateral anaesthesia (or hypaesthesia), contralateral weakness, ataxia and, often, persistent spontaneous pain. BASAL GANGLIA: Basal ganglia form a major centre in the complex extrapyramidal motor system, as opposed to the pyramidal motor system (corticobulbar and corticospinal pathways). Basal ganglia are involved in many neuronal pathways having emotional, motivational, associative and cognitive functions as well. The striatum (caudate nucleus, putamen and nucleus accumbens) receive inputs from all cortical areas and, throughout the thalamus, project principally to frontal lobe areas (prefrontal, premotor and supplementary motor areas) which are concerned with motor planning. These circuits: (i) have an important regulatory influence on cortex, providing information for both automatic and voluntary motor responses to the pyramidal system; (ii) play a role in predicting future events, reinforcing wanted behaviour and suppressing unwanted behaviour, and (iii) are involved in shifting attentional sets and in both high-order processes of movement initiation and spatial working memory. Basal ganglia-thalamo-cortical circuits maintain somatotopic organisation of movement-related neurons throughout the circuit. These circuits reveal functional subdivisions of the oculomotor, prefrontal and cingulate circuits, which play an important role in attention, learning and potentiating behaviour-guiding rules. Involvement of the basal ganglia is related to involuntary and stereotyped movements or paucity of movements without involvement of voluntary motor functions, as in Parkinson's disease, Wilson's disease, progressive supranuclear palsy or Huntington's disease. The symptoms differ with the location of the lesion. The commonest disturbances in basal ganglia lesions are abulia (apathy with loss of initiative and of spontaneous thought and emotional responses) and dystonia, which become manifest as behavioural and motor disturbances, respectively.     

Movement disorders in astrocytomas of the basal ganglia and the thalamus.

In a series of 225 patients with astrocytomas (grades I-IV) of the basal ganglia and the thalamus, 20 had a movement disorder. In all patients the histological diagnosis was verified by stereotactic biopsy. Tremor was observed in twelve patients, dystonia in eight, chorea in three, and chorea/ballismus and myoclonus in one. The tumour involved the thalamus in 16 patients. Corticospinal tract dysfunction was evident in 70% of the patients with movement disorders and in 73% of those without. Demographic, clinical, histological and neuroradiological data of the patients with a movement disorder were compared with the data of patients without. CT data yielded no differences with respect to the involvement of anatomical structures. Movement disorders were significantly associated with low-grade astrocytomas.     

Germ cell tumors of the thalamus and the basal ganglia

Two cases of germ cell tumors (GCTs) of the basal ganglia are presented and 40 previously reported cases are reviewed. The incidence of GCTs of the basal ganglia and thalamus was estimated as less than 14% of all intracranial GCTs. All patients except for two (95%) were male, aged 7–19 years. The clinical course was usually slow. The major symptoms were hemiparesis, mental deterioration such as dementia or character change, precocious puberty, diabetes insipidus, oculomotor palsy, speech disturbance, and hemianopsia. Signs of intracranial hypertension did not occur until the late stages of the disease. The plain CT finding was characterized by an irregularly defined, slightly high-density area frequently accompanied by central low-density areas without significant mass effect. The tumors showed mild to moderate and nonhomogeneous contrast enhancement. An ipsilateral cerebral hemiatrophy was often found. MR images demonstrated the corresponding findings. GCTs of the basal ganglia had a high possibility of containing components other than germinoma such as choriocarcinoma, endodermal sinus tumor, and embryonal carcinoma. Thus, tumor markers in the serum, CSF, or cyst fluid were frequently positive. With recent refinement of microsurgical techniques as well as immunohistochemical study and measurements of tumor markers of serum, CSF, and cyst fluid, major resections of tumor, accurate pretreatment histologic diagnosis, and early determination of the specific types of this tumor appear to be readily possible. This is essential for effective treatment of patients not only with radiosensitive germinoma, but also those with radioinsensitive nongerminoma variants and a combination of them located in this region.     

The germinomas arising from the basal ganglia and thalamus

Objective To introduce the features of germinomas arising from the basal ganglia (BG) and thalamus. Method Retrospective analysis was done with the clinical cases of germinomas in BG and thalamus from 1996 to 2000. The data included the symptoms, signs, neuroimaging findings, treatment, and outcomes. Result Fourteen cases were included, only one female was included. The main symptoms are disorder of numbness and weakness in limbs. Neuroimaging showed no or mild peritumor high signal in T2 weighted imaging of magnetic resonance, accompanied with cyst, calcification or bleeding. Total gross resection was obtained in nine cases, subtotal resection in four. Follow-up data were available in 11 cases with average of 56 months. Eight cases underwent only postoperative radiotherapy, one underwent only chemotherapy, and two underwent both. One case died of complication 6 months after chemotherapy, the rest lived good life. Conclusion Germinoma in BG and thalamus predominate in a boy. The neuroimaging features are very informative for diagnosis. Surgical resection should not be the first choice although it is has lesser complications. The long-term outcome is favorable.     

Lrrk2 localization in the primate basal ganglia and thalamus: A light and electron microscopic analysis in monkeys

The Leucine Rich Repeat Kinase-2 (LRRK2) gene is a common mutation target in Parkinson's disease (PD), but the cellular mechanisms by which such mutations underlie the pathophysiology of PD remain poorly understood. Thus, to better characterize the neuronal target sites of LRRK2 mutations in the primate brain, we studied the cellular and ultrastructural localization of Lrrk2 immunoreactivity in the monkey basal ganglia. As previously described, the monkey striatum was the most enriched basal ganglia structure in Lrrk2 labeling. Both projection neurons and parvalbumin-containing GABAergic interneurons displayed Lrrk2 immunoreactivity. At the electron microscopic level, striatal Lrrk2 labeling was associated predominantly with dendritic shafts and subsets of putative glutamatergic axon terminals. At the pallidal level, moderate cellular Lrrk2 immunostaining was found in the external globus pallidus (GPe), while neurons in the internal globus pallidus (GPi) were devoid of Lrrk2 immunoreactivity. Strong labeling was associated with cholinergic neurons in the nucleus basalis of Meynert. Midbrain dopaminergic neurons in the primate substantia nigra pars compacta (SNc) and ventral tegmental area harbored a significant level of Lrrk2 labeling, while neurons in the subthalamic nucleus were lightly immunostained. Most thalamic nuclei were enriched in Lrrk2 immunoreactivity, except for the centromedian nucleus that was completely devoid of labeling. Thus, Lrrk2 protein is widely distributed in the monkey basal ganglia, suggesting that gene mutations in PD may result in multifarious pathophysiological effects that could impact various target sites in the functional circuitry of the primate basal ganglia.     

Volume and iron content in basal ganglia and thalamus

Magnetic resonance imaging (MRI) studies have highlighted the possibility to investigate brain iron content in vivo. In this study, we combined T2* relaxometry and automatic segmentation of basal ganglia based on T1‐weighted images in healthy subjects, with the aim of characterizing age related changes in volume and iron‐related relaxivity values (R2*) of these structures. Thirty healthy subjects underwent MR imaging at 3 Tesla. Mean R2* values and volumes were calculated for the selected subcortical structures (pallidum, putamen, thalamus and caudate nucleus). Our results showed a correlation between R2* values and iron concentration as calculated from published post‐mortem data. Furthermore, we observed a shrinkage/iron increase with a different pattern in the anatomical regions selected in this work, suggesting that the age‐related changes on these MR parameters are specific to the subcortical structure considered. In particular, the putamen demonstrated a decrease of volume and an increase of iron level, with the posterior region of this structure appearing more disposed to iron deposition. Our work suggests that combining volumetry and iron estimation in MRI permits to investigate in vivo neurophysiological and neuropathological changes of basal ganglia. Hum Brain Mapp 2009. © 2009 Wiley‐Liss, Inc.     

Neuronal activity in the basal ganglia and thalamus in patients with dystonia.

OBJECTIVE: To explore the role of abnormal neuronal activity in the basal ganglia and thalamus in the generation of dystonia. METHODS: Microelectrode recording was performed in the globus pallidus internus (GPi), ventral thalamic nuclear group ventral oral posterior/ventral intermediate, Vop/Vim) and subthalamic nucleus (STN) in patients with primary dystonia (n=11) or secondary dystonia (n=9) during surgery. Electromyogram (EMG) was simultaneously recorded in selected muscle groups. Single unit analysis and cross-correlations were carried out. RESULTS: Three hundred and sixty-seven neurons were obtained from 29 trajectories (GPi: 13; Vop/Vim: 12; STN: 4), 87% exhibited altered neuronal activity including grouped discharges in GPi (n=79) and STN (n=37), long-lasting neuronal activity (n=70) and rapid neuronal discharge (n=86) in Vop/Vim. There were neurons in Vop, GPi and STN firing at the same frequency as EMG during dystonia (mean: 0.39 Hz, range 0.12-0.84 Hz). Significant correlations between neuronal activity and EMG at the frequency of dystonia were obtained (GPi: r2=0.7 (n=31), Vop/Vim: r2=0.64 (n=18) and STN: r2=0.86 (n=17)). CONCLUSIONS: Consistent with previous findings of abnormalities observed in Vop/VIM and GPi in relation to dystonia, the present data further show that the altered activity in GPi, specifically in dorsal subregions of GPi, Vop/Vim and STN is likely to be directly involved in the production of dystonic movement. Dystonia-related neuronal activity observed in motor thalamus and basal ganglia nuclei of GPi and STN indicates a critical role of their interactions affecting both indirect and direct pathways in the development of either generalized or focal dystonia. SIGNIFICANCE: These data support a central role of the basal ganglia in producing dystonic movements.     

Linear hyperechogenicity within the basal ganglia and thalamus of preterm infants

Linear hyperechogenicity (LHE) within the basal ganglia and thalamus is an uncommon sonographic finding in preterm infants and is of unclear significance. The study objectives were to determine the clinical characteristics and neurodevelopmental outcome in preterm infants who develop LHE. Ten preterm and 20 control infants were evaluated developmentally at 18 months adjusted age using the Bayley Scales of Infant Development. LHE was diagnosed at 4 weeks (range = 1-11). Antenatal glucocorticoid therapy was more common in infants with LHE than in the control infants (90% vs 45%). Four (44%) of nine LHE infants and no control infants were positive for cytomegalovirus (P = 0.02, and three of 10 LHE infants and no control infants had a hypothyroid (P = 0.03). The mental development scores and behavioral evaluation results were lower in the infants with LHE than in the control infants (73.7 +/- 9.7 vs 83.7 +/- 9.4, P = 0.01 and 23.7 +/- 20.1 vs 43.9 +/- 25.4, P = 0.04, respectively). The infants without LHE also had poorer motor quality (22.8 +/- 20. 5 vs 55.7 +/- 37.4, P = 0.02) and lower emotional regulation scores (25.7 +/- 16 vs 42.3 +/- 24, P = 0.06) than the control infants. Preterm infants with LHE are at an increased risk of adverse neurodevelopmental outcome and, in particular, cognitive and behavioral performance. The sonographic evolution of LHE may be a marker of a diffuse insult to the brain.     

Damage of thalamus and basal ganglia in asphyxiated full-term neonates

Thalamic-striatal damage of symmetric bilateral distribution was found in four severely asphyxiated neonates born at term. Two patients showed evidence of bilateral thalamic-striatal necrosis and two showed hemorrhage of the same distribution. The four patients had a common history of prolonged asphyxia in the neonatal period combined with severe acidosis and respiratory insufficiency. The outcome was lethal in all children. Three patients survived for some time and showed additional evidence of generalized brain damage including cortical necrosis and subcortical leucomalacia and one patient was found to have intravital calcification of the putamen at 14 days of age. The appearance of thalamic-striatal damage in US, CCT and NMR imaging is discussed. Thalamic-striatal damage may not be detectable by US until several days after the initial insult. US does not permit a distinction between necrosis and hemorrhage, but CCT and NMR imaging may be successful. Only five infants with a comparable pattern of brain damage due to asphyxia have been described so far. Our own studies seem to indicate that thalamic-striatal damage is the hallmark of more widespread brain damage, and that it will be found more frequently if carefully looked for in asphyxiated neonates born at term.     

Bilateral lesions of thalamus and basal ganglia: origin and outcome

Twenty-seven MRI examinations from 17 children (7 females, 10 males) with bilateral lesions of the basal ganglia and thalamus, presenting over a period of 8 years, were reevaluated, and correlated with the type of cerebral palsy (CP) as well as motor and cognitive impairment. Children were between 1 year 6 months and 17 years old at last examination (mean 5 years 9 months). Brain damage had occurred as a consequence of birth asphyxia in nine patients and of neonatal shock in four patients. No adverse event could be identified in four children. In these, late prenatal compromise is assumed, as extensive screening (including MR spectroscopy in two patients) did not yield an underlying metabolic disorder. Three different degrees of MRI lesion patterns could be defined: a mild pattern (involvement of nucleus lentiformis and ventro-lateral thalamus only; n=7), an intermediate pattern (involvement of nucleus lentiformis, ventro-lateral thalamus, and pericentral region; n=3), and a severe pattern (involvement of nucleus lentiformis, entire thalamus, pericentral region, and hippocampus; n=7). This grading of MRI findings correlated significantly with the severity of both cognitive and motor impairment and type of CP. Normal cognitive development and mild motor delay was only seen with the mild pattern. All children developed CP: purely dyskinetic CP was only seen with the mild pattern, whereas the dyskinetic-spastic or spastic CP types could be seen in all three lesion patterns, with dyskinetic-spastic CP more related to the moderate, and purely spastic CP more related to the severe pattern.     

Relations between basal ganglia and hippocampus: action of substantia nigra and pallidum

Several interrelationships exist between basal ganglia and hippocampus. The ventral striatum appears to be involved in the control of the dopaminergic nigro-striatal pathway. The caudate, in turn, seems to influence the hippocampal theta rhythm and to inhibit hippocampal spikes. In the present work the role played by globus pallidus pars interna and substantia nigra pars compacta on hippocampal bioelectrical activity is studied. Injection of sodium penicillin i.v. produces steady interictal spikes in the hippocampus. Substantia nigra stimulation induces regular theta rhythm and inhibits the spikes. Pallidal stimulation, on the contrary, appears to strongly enhance epileptiform activity, proceeding to generalised seizure activity. The results are discussed in the light of a putative feedback loop from basal ganglia to hippocampus, probably underlying co-participation of the two subcortical structures in the control of motor behaviour.     

Disconnection syndromes of basal ganglia, thalamus, and cerebrocerebellar systems

Disconnection syndromes were originally conceptualized as a disruption of communication between different cerebral cortical areas. Two developments mandate a re-evaluation of this notion. First, we present a synopsis of our anatomical studies in monkey elucidating principles of organization of cerebral cortex. Efferent fibers emanate from every cortical area, and are directed with topographic precision via association fibers to ipsilateral cortical areas, commissural fibers to contralateral cerebral regions, striatal fibers to basal ganglia, and projection subcortical bundles to thalamus, brainstem and/or pontocerebellar system. We note that cortical areas can be defined by their patterns of subcortical and cortical connections. Second, we consider motor, cognitive and neuropsychiatric disorders in patients with lesions restricted to basal ganglia, thalamus, or cerebellum, and recognize that these lesions mimic deficits resulting from cortical lesions, with qualitative differences between the manifestations of lesions in functionally related areas of cortical and subcortical nodes. We consider these findings on the basis of anatomical observations from tract tracing studies in monkey, viewing them as disconnection syndromes reflecting loss of the contribution of subcortical nodes to the distributed neural circuits. We introduce a new theoretical framework for the distributed neural circuits, based on general, and specific, principles of anatomical organization, and on the architecture of the nodes that comprise these systems. We propose that neural architecture determines function, i.e., each architectonically distinct cortical and subcortical area contributes a unique transform, or computation, to information processing; anatomically precise and segregated connections between nodes define behavior; and association fiber tracts that link cerebral cortical areas with each other enable the cross-modal integration required for evolved complex behaviors. This model enables the formulation and testing of future hypotheses in investigations using evolving magnetic resonance imaging techniques in humans, and in clinical studies in patients with cortical and subcortical lesions.     

Limb apraxia in patients with damage confined to the left basal ganglia and thalamus.

Limb apraxia was investigated with standardised tests in 14 patients whose CT scan provided evidence of a vascular lesion confined to the left basal ganglia, or the thalamus, or both, and not involving the cortex or adjacent white matter. Five patients were severely impaired in imitating movements and pantomiming object use. Four of them also performed poorly when tested with real objects. In two patients the lesion was primarily thalamic and in three the lesion was primarily in the lenticular nucleus and the posterior limb of the internal capsule. Patients without apraxia generally had smaller injuries, but there were exceptions. Apraxia is currently conceived of as due to damage of cortical areas and their cortico-cortical connections, but the present data suggest that the model should be enlarged to include the deep nuclei and the pathways running through them.     

Ultrasonographic findings in thalamus and basal ganglia in term asphyxiated infants

Three severely asphyxiated term neonates demonstrated bilateral hyperechogenicity in the thalamus and basal ganglia. During evolution, areas of attenuated echogenicity appeared in these structures at the same time as periventricular cysts were evident in 2 patients with coexistent periventricular leukomalacia. All 3 patients developed ventricular dilatation; in the 2 patients with periventricular leukomalacia, the ventricular border was irregular in the outer (dorsal) margin, and interhemispheric fissures were widened as a manifestation of cerebral atrophy. Furthermore, the thalamic inner (ventral) margins of the lateral ventricles were irregular in all 3 patients. This previously unrecognized finding points to a particular form of cerebral atrophy localized in the gangliothalamic region that contributes to the development of ventriculomegaly. The reported sonographic sequence implies profound damage in the thalamus and basal ganglia in asphyxiated infants which undoubtedly has contributed to the poor outcomes of our patients.     

Preparation for movement in the cat. II. Unit activity in the basal ganglia and thalamus.

Of the movement-related units in the globus pallidus and entopeduncular nucleus 30--40% show early (more than 500 msec) onsets of their movement-related activity preceding self-initiated 'elbow'-flexing movements in cats. The medial pericruciate motor cortex and the VL-VA thalamic nuclei display similar distributions of onset times, in contrast to the lateral cruciate cortex where 97% of neurons change their activity much later. The possible significance of the early activity is discussed in relation to the notion of 'response set'. It is suggested that these data support the concept that the basal ganglia participate in the enabling and sequencing of movements rather than in directly causing them to occur.     

Ultrastructural localization of parkin in the rat brainstem, thalamus and basal ganglia

The parkin gene encodes a 52 kd putative E3 ubiquitin-protein ligase involved in an autosomal recessive form of early onset parkinsonism. Parkin ultrastructural localization was studied by immunohistochemistry in the adult rat brain and in a parkin inducible PC12 cell line (HS22). In the rat brain, parkin immunoreactivity was detected in neuronal and glial cell bodies and in nerve processes. In the neurons, it was mostly localized on the periphery of large vesicles, some rare mitochondria and endoplasmic reticulum in the cell bodies, and on the periphery of large vesicles in the dendrites and terminals of the neurons. In addition, parkin immunoreactivity was also found around synaptic vesicles in the presynaptic elements of some axons. In HS22 cells over-expressing parkin, the distribution of the protein was similar to that observed in the perikarya of the labeled neurons.     

Prognostic significance of hyperechogenic lesions in the basal ganglia and thalamus in neonates

Neonatal cranial ultrasonography at times reveals hyperechogenic lesions in the basal ganglia and thalamus. These lesions have been attributed to a wide variety of pathologic states, among them toxoplasmosis, rubella, cytomegalovirus, and herpes simplex (TORCH) infections, chromosomal abnormalities, and asphyxia. The clinical significance in terms of the neurodevelopmental outcome of this radiologic abnormality is unknown. We performed a developmental evaluation on 16 children aged 2 to 6 years in whom neonatal cranial ultrasonography had demonstrated hyperechogenic lesions in the basal ganglia or thalamus and had no other neurodevelopmental risk factors. There was no significant difference between the average Developmental Quotient of the target population and the normal population in regard to developmental status. We conclude that in our population, an isolated finding of hyperechogenic lesions in the basal ganglia is probably not a predictor of poor neurodevelopmental outcome.     

Subthalamo-pallidal interactions underlying parkinsonian neuronal oscillations in the primate basal ganglia

Parkinson’s disease is characterized by degeneration of nigral dopaminergic neurons, leading to a wide variety of psychomotor dysfunctions. Accumulated evidence suggests that abnormally synchronized oscillations in the basal ganglia contribute to the expression of parkinsonian motor symptoms. However, the mechanism that generates abnormal oscillations in a dopamine‐depleted state remains poorly understood. We addressed this question by examining basal ganglia neuronal activity in two 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine‐treated parkinsonian monkeys. We found that systemic administration of l ‐3,4‐dihydroxyphenylalanine (l ‐DOPA; dopamine precursor) decreased abnormal neuronal oscillations (8–15 Hz) in the internal segment of the globus pallidus (GPi) and the subthalamic nucleus (STN) during the ON state when parkinsonian signs were alleviated and during l ‐DOPA‐induced dyskinesia. GPi oscillations and parkinsonian signs were suppressed by silencing of the STN with infusion of muscimol (GABA_A receptor agonist). Intrapallidal microinjection of a mixture of 3‐(2‐carboxypiperazin‐4‐yl)‐propyl‐1‐phosphonic acid (CPP; N‐methyl‐d ‐aspartate receptor antagonist) and 1,2,3,4‐tetrahydro‐6‐nitro‐2,3‐dioxo‐benzo[f]quinoxaline‐7‐sulfonamide (NBQX; AMPA/kainate receptor antagonist) also decreased the oscillations in the GPi and the external segment of the globus pallidus (GPe). Neuronal oscillations in the STN were suppressed after intrasubthalamic microinjection of CPP/NBQX to block glutamatergic afferents of the STN. The STN oscillations were further reduced by muscimol inactivation of the GPe to block GABAergic inputs from the GPe. These results suggest that, in the dopamine‐depleted state, glutamatergic inputs to the STN and reciprocal GPe–STN interconnections are both important for the generation and amplification of the oscillatory activity of STN neurons, which is subsequently transmitted to the GPi, thus contributing to the symptomatic expression of Parkinson’s disease.