Venous thromboembolic complications with and without intermittent intraoperative and postoperative pneumatic compression in patients with glioblastoma multiforme using intraoperative magnetic resonance imaging. A retrospective study.

OBJECTIVE: To evaluate the effectiveness of intraoperative and postoperative intermittent pneumatic compression (IPC) as a method used to decrease the incidence of deep venous thrombosis (DVT), in comparison to the standard use of graduated compression stockings, low-molecular weight heparin (LMWH) and physiotherapy during the hospital stay. All patients in this study underwent intracranial surgery for glioblastoma multiforme (GBM) using intraoperative magnetic resonance imaging (MRI) guidance. PATIENTS AND METHODS: We performed a single center retrospective study of a cohort of 153 patients who underwent surgery for GBM aided by intraoperative MRI from October of 2009 to January of 2015 at the International Neuroscience Institute (INI), Hannover, Germany. Out of all patients, 75 in comparison to 78 were operated with and without the additional use of IPC, respectively. Both groups received graduated compression stockings, LMWH and physiotherapy postoperatively as a basic thromboprophylaxis. Postoperatively the patients were screened for DVT by Doppler ultrasonography of the limbs and pulmonary embolism (PE) by CT-scan of the chest. RESULTS: DVTs were found in 6 patients with IPC and in 3 patients without IPC. The incidence of developing DVTs was therefore not significantly increased with the application of IPC from 3.9% to 8% (P-value: 0.33). No statistically significant differences were found in the probability of occurrence of pulmonary embolism (PE) with a reduction from 2.6% to 1.3% (P-value: 0.59). CONCLUSION: Our results demonstrate, that the surgical intervention and the subsequent patient immobilization, as well as the thromboprophylactic techniques used have a relatively low influence on the occurrence of thromboembolic complications than we expected. Our findings might be attributed to the overall low number of these complications in a glioblastoma multiforme patient population expected to be at a high risk for coagulopathy. In other words, in order to produce statistically significant results, we would need to increase the patient cohort. By doing so we may better detect a positive therapeutic effect. Alternatively, because of the multitude of possible complex risk-factors leading to coagulopathy in a glioblastoma patient population it might be the case that IPC has little or no effect and that there is a different underlying mechanism responsible for the observed coagulopathy.

Maladaptive connectivity of Broca's area in schizophrenia during audiovisual speech perception: an fMRI study.

Speech comprehension relies on auditory as well as visual information, and is enhanced in healthy subjects, when audiovisual (AV) information is present. Patients with schizophrenia have been reported to have problems regarding this AV integration process, but little is known about which underlying neural processes are altered. Functional magnetic resonance imaging was performed in 15 schizophrenia patients (SP) and 15 healthy controls (HC) to study functional connectivity of Broca's area by means of a beta series correlation method during perception of audiovisually presented bisyllabic German nouns, in which audio and video either matched or did not match. Broca's area of SP showed stronger connectivity with supplementary motor cortex for incongruent trials whereas HC connectivity was stronger for congruent trials. The right posterior superior temporal sulcus (RpSTS) area showed differences in connectivity for congruent and incongruent trials in HC in contrast to SP where the connectivity was similar for both conditions. These smaller differences in connectivity in SP suggest a less adaptive processing of audiovisually congruent and incongruent speech. The findings imply that AV integration problems in schizophrenia are associated with maladaptive connectivity of Broca's and RpSTS area in particular when confronted with incongruent stimuli. Results are discussed in light of recent AV speech perception models.

Systemic inflammatory effects of traumatic brain injury, femur fracture, and shock: an experimental murine polytrauma model.

OBJECTIVE: Despite broad research in neurotrauma and shock, little is known on systemic inflammatory effects of the clinically most relevant combined polytrauma. Experimental investigation in an animal model may provide relevant insight for therapeutic strategies. We describe the effects of a combined injury with respect to lymphocyte population and cytokine activation. METHODS: 45 male C57BL/6J mice (mean weight 27 g) were anesthetized with ketamine/xylazine. Animals were subjected to a weight drop closed traumatic brain injury (WD-TBI), a femoral fracture and hemorrhagic shock (FX-SH). Animals were subdivided into WD-TBI, FX-SH and combined trauma (CO-TX) groups. Subjects were sacrificed at 96 h. Blood was analysed for cytokines and by flow cytometry for lymphocyte populations. RESULTS: Mortality was 8%, 13% and 47% for FX-SH, WD-TBI and CO-TX groups (P < 0.05). TNFα (11/13/139 for FX-SH/WD-TBI/CO-TX; P < 0.05), CCL2 (78/96/227; P < 0.05) and IL-6 (16/48/281; P = 0.05) showed significant increases in the CO-TX group. Lymphocyte populations results for FX-SH, WD-TBI and CO-TX were: CD-4 (31/21/22; P = n.s.), CD-8 (7/28/34, P < 0.05), CD-4-CD-8 (11/12/18; P = n.s.), CD-56 (36/7/8; P < 0.05). CONCLUSION: This study shows that a combination of closed TBI and femur-fracture/ shock results in an increase of the humoral inflammation. More attention to combined injury models in inflammation research is indicated.

Histopathological features of the brain, liver, kidney and spleen following an innovative polytrauma model of the mouse.

OBJECT: Among the various introduced experimental traumatic brain injury models, there is a clear paucity of proper experimental polytrauma models. To overcome this experimental gap we introduced such a polytrauma model in the mouse including traumatic brain injury. Here, we report on the histopathological features of the brain, lung, kidney, spleen and liver. MATERIALS AND METHODS: 20 male C57BL mice with a mean weight of 23 g were anesthetized with ketamine and xylazine. The anaesthetized animals were subjected to a controlled cortical impact (CCI) over the left parieto-temporal cortex using rounded-tip impounder for application of a standardized brain injury. Following fracture of the right femur using a guillotine, a volume-controlled hemorrhagic shock was induced. The control groups included animals with CCI only (n=20) and animals with femur fracture plus hemorrhagic shock without CCI (n=20). Subjects were sacrified at 96 h following trauma. Brain, lung, kidney, spleen and liver of the animals underwent histopathological examinations. RESULTS: The mortality rate at 96 h was 25% in the polytrauma group versus 10% in the control groups. Within the histopathological investigations, polytraumatized animals differ from those with a single trauma (traumatic brain injury or femur fracture with hemorrhagic shock) with various severity. CONCLUSION: The findings of this study show that such a polytrauma model can be standardized resulting in a reproducible damage. This model fulfills the requirements of a standardized animal model. It allows adequate analogies and inferences to the clinical situation of a polytrauma in humans.

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2.

OBJECTIVES: To perform a comprehensive population genetic study of PARK2. PARK2 mutations are associated with juvenile parkinsonism, Alzheimer disease, cancer, leprosy, and diabetes mellitus, yet ironically, there has been no comprehensive study of PARK2 in control subjects; and to resolve controversial association of PARK2 heterozygous mutations with Parkinson disease (PD) in a well-powered study. METHODS: We studied 1,686 control subjects (mean age 66.1 ± 13.1 years) and 2,091 patients with PD (mean onset age 58.3 ± 12.1 years). We tested for PARK2 deletions/multiplications/copy number variations (CNV) using semiquantitative PCR and multiplex ligation-dependent probe amplification, and validated the mutations by real-time quantitative PCR. Subjects were tested for point mutations previously. Association with PD was tested as PARK2 main effect, and in combination with known PD risk factors: SNCA, MAPT, APOE, smoking, and coffee intake. RESULTS: A total of 0.95% of control subjects and 0.86% of patients carried a heterozygous CNV mutation. CNV mutations found in 16 control subjects were all in exons 1-4, sparing exons that encode functionally critical protein domains. Thirteen patients had 2 CNV mutations, 5 had 1 CNV and 1 point mutation, and 18 had 1 CNV mutation. Mutations found in patients spanned exons 2-9. In whites, having 1 CNV was not associated with increased risk (odds ratio 1.05, p = 0.89) or earlier onset of PD (64.7 ± 8.6 heterozygous vs 58.5 ± 11.8 normal). CONCLUSIONS: This comprehensive population genetic study in control subjects fills the void for a PARK2 reference dataset. There is no compelling evidence for association of heterozygous PARK2 mutations, by themselves or in combination with known risk factors, with PD.

Human PON1, a biomarker of risk of disease and exposure.

Human paraoxonase 1 (PON1) is a high-density lipoprotein (HDL)-associated serum enzyme that exhibits a broad substrate specificity. In addition to protecting against exposure to some organophosphorus (OP) pesticides by hydrolyzing their toxic oxon metabolites, PON1 is important in protecting against vascular disease by metabolizing oxidized lipids. Recently, PON1 has also been shown to play a role in inactivating the quorum sensing factor N-(3-oxododecanoyl)-l-homoserine lactone (3OC12-HSL) of Pseudomonas aeruginosa. Native, untagged engineered recombinant human PON1 (rHuPON1) expressed in Escherichia coli and purified by conventional column chromatographic purification is stable, active, and capable of protecting PON1 knockout mice (PON1(-/-)) from exposure to high levels of the OP compound diazoxon. The bacterially derived rHuPON1 can be produced in large quantities and lacks the glycosylation of eukaryotic systems that can produce immunogenic complications when inappropriately glycosylated recombinant proteins are used as therapeutics. Previous studies have shown that the determination of PON1 status, which reveals both PON1(192) functional genotype and serum enzyme activity level, is required for a meaningful evaluation of PON1's role in risk of disease or exposure. We have developed a new two-substrate assay/analysis protocol that provides PON1 status without use of toxic OP substrates, allowing for use of this protocol in non-specialized laboratories. Factors were also determined for inter-converting rates of hydrolysis of different substrates. PON1 status also plays an important role in revealing changes in HDL-associated PON1 activities in male patients with Parkinson disease (PD). Immunolocalization studies of PONs 1, 2 and 3 in nearly all mouse tissues suggest that the functions of PONs 1 and 3 extend beyond the plasma and the HDL particle.

An electrophysiological study on the safety of the endoscope-assisted microsurgical removal of vestibular schwannomas.

BACKGROUND: Endoscopy is being increasingly used in skull base surgery. The issue of its safety, however, has not been definitely solved. METHODS: We evaluated the risk of thermal or mechanical iatrogenic nerve injury related to endoscope application during microsurgical removal of vestibular schwannomas (VS) in a prospective group of 30 patients (Group A). Main analysed parameters were electrophysiological monitoring data (auditory evoked potentials and EMG) during and after endoscopic observation. The structural and functional preservation of facial and cochlear nerves, radicality of tumour removal, and CSF leak rate were evaluated and compared to historical group of 50 patients (Group B), operated consecutively with classical microsurgical technique. RESULTS: No electrophysiological changes directly related to endoscope were registered. The rate of loss of waves I, II, and V did not depend on application of endoscope and was similar in both groups. The functional and general outcome was also similar. Endoscopic inspection provided early and detailed view of anatomical relations within cerebellopontine angle and internal auditory canal and confirmed completeness of tumour removal. Total tumour removal was achieved in all patients from Group A and in 49/50 from Group B. Useful hearing after the surgery had 17/30 patients in Group A and 26/50 in Group B. CONCLUSIONS: The application of endoscope during microsurgical removal of VS is a safe procedure that does not lead to heat-related or mechanical neural or vascular injuries. The actual significance of this additional endoscopic information, however, is related to the particular operative technique and experience of the surgeon.

Late outcome of surgical treatment of the non-specific neurogenic thoracic outlet syndrome.

OBJECTIVE: Despite the relatively high incidence of the thoracic outlet syndrome, diagnostic criteria, role of surgery and optimal operative approach remain controversial. The main goal of the current study is to determine the long-term outcome of operative treatment of a series of patients with non-specific neurogenic thoracic outlet syndrome. METHODS: A retrospective study of a consecutive group of patients with thoracic outlet syndrome was carried out. The indications for surgery relied on clinical examination. Patients with diffuse pain were excluded. In all cases, the supraclavicular approach was used. Main outcome measures were neurological status and subjective complains. RESULTS: Nineteen patients have been operated over a period of 5 years. Total number of surgeries was 23. Pain and paresthesia on exertion were the leading symptoms in all cases. The causes of thoracic outlet syndrome were fibromuscular compression in 43.5%, cervical rib alone or in combination with a fibromuscular component in 30.4% and the first rib in 26.1%. The average follow-up was 36.3 months. In 91.7%, improvement of at least 50% was observed; 20.8% of the patients were completely symptom-free, and in 25%, the improvement was 90%. Recovery of the pre-operative motor weakness was recorded in 66.6%. The mortality and the permanent morbidity rates of the procedure were 0%. DISCUSSION: Operative decompression of the brachial plexus via the supraclavicular approach in patients with non-specific neurogenic thoracic outlet syndrome is a safe procedure that leads to a significant neurological improvement and amelioration of complains. The indication for surgery should be based chiefly on the neurological and clinical findings.

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

BACKGROUND: Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among patients with Parkinson's disease. We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson's disease. METHODS: Sixteen centers participated in our international, collaborative study: five from the Americas, six from Europe, two from Israel, and three from Asia. Each center genotyped a standard DNA panel to permit comparison of the genotyping results across centers. Genotypes and phenotypic data from a total of 5691 patients with Parkinson's disease (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews) were analyzed, with multivariate logistic-regression models and the Mantel-Haenszel procedure used to estimate odds ratios across centers. RESULTS: All 16 centers could detect two GBA mutations, L444P and N370S. Among Ashkenazi Jewish subjects, either mutation was found in 15% of patients and 3% of controls, and among non-Ashkenazi Jewish subjects, either mutation was found in 3% of patients and less than 1% of controls. GBA was fully sequenced for 1883 non-Ashkenazi Jewish patients, and mutations were identified in 7%, showing that limited mutation screening can miss half the mutant alleles. The odds ratio for any GBA mutation in patients versus controls was 5.43 across centers. As compared with patients who did not carry a GBA mutation, those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were more likely to have atypical clinical manifestations. CONCLUSIONS: Data collected from 16 centers demonstrate that there is a strong association between GBA mutations and Parkinson's disease.

Longitudinal progression of sporadic Parkinson's disease: a multi-tracer positron emission tomography study.

Parkinson's disease is a heterogeneous disorder with multiple factors contributing to disease initiation and progression. Using serial, multi-tracer positron emission tomography imaging, we studied a cohort of 78 subjects with sporadic Parkinson's disease to understand the disease course better. Subjects were scanned with radiotracers of presynaptic dopaminergic integrity at baseline and again after 4 and 8 years of follow-up. Non-linear multivariate regression analyses, using random effects, of the form BP(ND)(t) or K(occ)(t) = a*e((-)(bt)(-d)(A) + c, where BP(ND) = tracer binding potential (nondispaceable), K(OCC) = tracer uptake constant a, b, c and d are regression parameters, t is the symptom duration and A is the age at onset, were utilized to model the longitudinal progression of radiotracer binding/uptake. We found that the initial tracer binding/uptake was significantly different in anterior versus posterior striatal subregions, indicating that the degree of denervation at disease onset was different between regions. However, the relative rate of decline in tracer binding/uptake was similar between the striatal subregions. While an antero-posterior gradient of severity was maintained for dopamine synthesis, storage and reuptake, the asymmetry between the more and less affected striatum became less prominent over the disease course. Our study suggests that the mechanisms underlying Parkinson's disease initiation and progression are probably different. Whereas factors responsible for disease initiation affect striatal subregions differently, those factors contributing to disease progression affect all striatal subregions to a similar degree and may therefore reflect non-specific mechanisms such as oxidative stress, inflammation or excitotoxicity.

Audiovisual integration of speech is disturbed in schizophrenia: an fMRI study.

Speech perception is an essential part of social interaction. Visual information (lip movements, facial expression) may supplement auditory information in particular under inadvertent listening situations. Schizophrenia patients have been shown to have a deficit in integrating articulatory motions with the auditory speech input. The goal of this study was to investigate the neural basis of this deficit in audiovisual speech processing in schizophrenia patients by using fMRI. Disyllabic nouns were presented in congruent (audio matches visual information) and incongruent conditions in a slow event related fMRI design. Schizophrenia patients (n=15) were compared to age and gender matched control participants. The statistical examination was conducted by analysis of variance with main factors: audiovisual congruency and group membership. The patients' brain activity differed from the control group as evidenced by congruency by group interaction effects. The pertinent brain sites were located predominantly in the right hemisphere and comprised the pars opercularis, middle frontal sulcus, and superior temporal gyrus. In addition, we observed interactions bilaterally in the fusiform gyrus and the nucleus accumbens. We suggest that schizophrenia patients' deficits in audiovisual integration during speech perception are due to a dysfunction of the speech motor system in the right hemisphere. Furthermore the results can be also seen as a reflection of reduced lateralization of language functions to the left hemisphere in schizophrenia.

Venous complications following petrosal vein sectioning in surgery of petrous apex meningiomas.

OBJECTIVE: Meningiomas involving the petrous apex regularly show a close relationship with the superior petrosal vein which is sometimes obliterated during surgery due to its proximity to the tumour. However, there is no study available so far focusing on the frequency of postoperative venous congestion related complications following petrosal vein obliteration as well as on pre- and intraoperative findings related to them. METHODS: Fifty-nine patients with meningiomas involving the petrous apex were analyzed concerning the intraoperative preservation or sacrifice of the petrosal vein and postoperative complications related to venous occlusion. RESULTS: When a petrosal vein was occluded, in 9 of 30 cases venous-related complications occurred with a minor venous-congestion phenomenon in seven cases and major complications in two cases. When the petrosal vein complex was preserved, there were no similar complications. CONCLUSION: Preservation of the petrosal venous complex, especially of large caliber veins, should be attempted whenever possible to increase the safety of surgery. In cases of petrosal vein obliteration, effective brainstem decompression following tumour removal is essential to minimizing the risk of cerebellar congestion.

A simplified direct endonasal approach for transsphenoidal surgery.

Having the experience of more than 4,000 hypophysectomy operations (150 cases per year on the average) by the senior author, initially performed via an intracranial, then a transseptal approach, now a direct endonasal approach, as a minimal invasive technique, is introduced to reduce the complications and for better comfort of the patient. It is the least traumatic route to the sella turcica, it avoids brain retraction, and it provides excellent visualization of the pituitary gland and lesions related to that structure. The brilliant increased vision of the surgical target offered by the endoscope can enable a more effective removal of the lesion, followed by superior clinical results and a reduction in the incidence of complications.

Systemic effects of isolated brain injury: an experimental animal study.

OBJECTIVE: Although various experimental works of neurotrauma research are performed, little attention has been paid to the concomitant systemic changes following isolated traumatic brain injury (TBI). Such investigations seem to be a prerequisite condition for evaluation of experimental drugs, which may diminish the secondary damage following TBI. We describe histopathologic findings of the lung, liver, spleen and kidney 96 hours following an experimental TBI. METHODS: Ten male C57BI/6 mice were subjected to a controlled cortical impact (CCI) over the left parietotemporal cortex using rounded-tip impounder for application of a standardized brain injury. Subjects were killed 96 hours following trauma. Brain, lung, liver, kidney and spleen were preserved for morphologic examinations. RESULTS: Moderate histopathologic changes were evident in the lung and liver. The kidney and spleen seem not to be affected by the trauma regarding our examination. CONCLUSION: The findings of this study show that even isolated TBI can lead to a migration of immunocompetent cells to peripheral organs potentially leading to dysfunctions of peripheral organs to various extents. More attention to peripheral organs during experimental TBI research is indicated.

Hearing preservation after complete microsurgical removal in vestibular schwannomas.

AIM: To evaluate and present the treatment strategy and hearing preservation in a recent series of vestibular schwannoma cases. MATERIALS AND METHODS: A retrospective analysis of 200 patients operated consecutively over a 3 year period was performed. Patient records, operative reports, including data from the electrophysiological monitoring, follow-up audiometric examinations, and neuroradiological findings were analyzed. RESULTS: The anatomical integrity of the cochlear nerve was preserved in 75.8% of the cases. When only patients with preserved preoperative hearing were included, the rate was 84%. The overall rate of functional hearing preservation was 51%. It was highest in small tumors--60% in class T1 and 72% in class T2. In tumors extending to and compressing the brain stem, preservation of some hearing was possible in up to 43%. CONCLUSIONS: Vestibular schwannomas are benign lesions whose total removal leads to definitive healing of the patient. The goal of every surgery should be functional preservation of all cranial nerves. Using the retrosigmoid approach with the patient in the semi-sitting position, hearing preservation is possible even for large schwannomas.

Microsurgery management of vestibular schwannomas in neurofibromatosis type 2: indications and results.

AIM: To analyze the senior author's experience and strategy of treatment of patients with neurofibromatosis type 2 (NF2), with particular emphasis on vestibular schwannoma (VS) surgery. MATERIALS AND METHODS: Over a period of more than 35 years, the senior author (M.S.) has operated on more than 165 patients with NF2. The total number of VS surgeries was 210. This retrospective analysis includes 145 consecutively operated patients. Medical records, operative reports, follow-up neurological, audiometric examinations, and neuroradiological findings were analyzed. RESULTS: Total tumor removal was achieved in 85% of the operated tumors. In 15%, deliberately subtotal removal was performed for brain stem decompression and hearing preservation in the only hearing ear. The overall rate of hearing preservation was 35%. When only patients with preserved useful preoperative hearing were included, the rate was 65%. Bilateral hearing after surgery was preserved in 23% of the patients. The anatomical integrity of the facial nerve was preserved in 89%. CONCLUSIONS: The goal of VS surgery in patients with NF2 should be complete removal but not at the expense of functional impairment. Carefully individualized treatment strategy offers the possibility of prolongation of life and preservation of neurological functions.

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.

OBJECTIVE: Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common cause of Parkinson disease (PD). Several dominantly inherited pathogenic substitutions have been identified in different domains of the Lrrk2 protein. Herein, we characterize the clinical and genetic features associated with Lrrk2 p.R1441C. METHODS: We identified 33 affected and 15 unaffected LRRK2 c.4321C>T (p.R1441C) mutation carriers through an international consortium originating from three continents. The age-specific cumulative incidence of PD was calculated by Kaplan-Meier analysis. RESULTS: The clinical presentation of Lrrk2 p.R1441C carriers was similar to sporadic PD and Lrrk2 p.G2019S parkinsonism. The mean age at onset for parkinsonism was 60 years, range 30-79 years; fewer than 20% of the patients had symptoms before the age 50 years, while by 75 years >90% of them had developed symptoms. Haplotype analysis suggests four independent founders for the p.R1441C mutation. CONCLUSIONS: The distribution in age at onset and clinical features in Lrrk2 p.R1441C patients are similar to idiopathic and Lrrk2 p.G2019S parkinsonism. Several independent founders of the p.R1441C substitution suggest this site is prone to recurrent mutagenesis.

Surgical planning for retrosigmoid craniotomies improved by 3D computed tomography venography.

OBJECTIVE: It is impossible to precisely anticipate the crooked course of the transverse and sigmoid sinuses and their individual relationship to superficial landmarks such as the asterion during retrosigmoid approaches. This study was designed to evaluate this anatomical relationship with the help of a surgical planning system and to analyze the impact of these in vivo findings on trepanation placement in retrosigmoid craniotomies. METHODS: In a consecutive series of 123 patients with pathologies located in the cerebellopontine angle, 72 patients underwent surgical planning for retrosigmoid craniotomies based on 3D volumetric renderings of computed tomography venography. By opacity modulation of surfaces in 3D images the position of the asterion was assessed in relationship to the transverse-sigmoid sinus transition (TST) and compared to its intraoperative localization. We evaluated the impact of this additional information on trepanation placement. RESULTS: The spatial relationship of the asterion and the underlying TST complex could be identified and recorded in 66 out of 72 cases. In the remaining 6 cases the sutures were ossified and not visible in the 3D CT reconstructions. The asterion was located on top of the TST in 51 cases, above the TST in 4 cases, and below the TST in 11 cases. The location of the trepanation was modified in 27 cases due to the preoperative imaging findings with major and minor modifications in 10 and 17 cases, respectively. CONCLUSION: Volume-rendered images provide reliable 3D visualization of complex and hidden anatomical structures in the posterior fossa and thereby increase the precision in retrosigmoid approaches.

Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease.

LRRK2 G2019S is the most common known cause of Parkinson disease (PD) in patients of European origin, but little is known about its distribution in other populations. The authors identified two of 586 Japanese patients with PD heterozygous for the mutation who shared a haplotype distinct from that observed in Europeans. This suggests that G2019S originated from separate founders in Europe and Japan and is more widely dispersed than previously recognized.

Cavernous malformation of the internal auditory canal.

Cavernous malformations of the internal auditory canal are a rare clinical entity that, however, should be considered in the differential diagnosis of intracanalicular masses. Even though this type of malformation is usually associated with an evident gadolinium enhancement at MR examination, in some patients, like in this case, the signal characteristics may be not sufficiently specific to allow the correct preoperative diagnosis. Nevertheless, the clinical history, in particular, a rapid onset of cranial nerve deficits, lead to the suspicion of a vascular malformation.