Biomedical subjects

W Maier

Publications and source records attributed to W Maier.

At least 91 records · Page 5Linked to original sources

PubMed2004

[Pathways to care: help-seeking behavior in first-episode psychosis].

Several studies on first episode schizophrenia suggest that a longer duration of untreated psychosis (DUP) results in poorer clinical outcome. The same is expected for the duration of untreated illness (DUI). It is therefore important to expose people at risk of schizophrenia to adequate treatment early on. The improvement of pathways to adequate treatment within the health care system might well be helpful. Therefore, an analysis of the pathways to care is necessary. Thus, in this present study 80 in-patients with first episode psychosis were investigated using the semi-structured interview IRAOS ("Interview for the Retrospective Assessment of the Onset of Schizophrenia") and data about the pathways to care before psychiatric admission were collected. The results indicate that patients contact on average three carers. Contact to a psychiatrist or a psychotherapist was only made two and a half years after onset of illness; general practitioners were only contacted after more than five years. However, there was a significant time lapse between first contact to psychiatrist/ psychotherapist and psychiatric admission. Only 31 % of patients sought help in the prodromal phase of the illness. Two strategies for a public campaign can be derived from these results: firstly, a public awareness campaign has to be implemented to shorten the interval from onset of illness to first help-seeking behaviour and secondly, professionals need to have more knowledge and better awareness of prodromal signs in order to reduce the time between diagnosis and adequate treatment.

Adolescent↗

PubMed2004

[Etiology and therapy of the internal jugular vein thrombosis].

BACKGROUND: Thromboses of the upper limp and neck are rare in comparison with those of the lower extremities. Internal jugular vein thrombosis (IJVT) is a serious event with a potentially fatal outcome. Complications include pulmonary embolism, sepsis with septic emboli to different organs and tissues as well as intracranial propagation of the thrombus with cerebral edema. As any thrombosis, IJVT is precipitated by Virchow's triad: endothelial damage, alteration of blood flow and hypercoagulability. The history and examination in patients with an IJVT may be vague and misleading. Patients may present with a painful swelling of the neck but they may also be absolutely asymptomatic. Imaging procedures frequently used to diagnose an IJVT include sonography with color-coded duplex sonography, computed tomography, magnetic resonance imaging as well as magnetic resonance venography. Up to date, there is no standardized treatment regimen for patients with an IJVT. PATIENTS AND METHODS: This retrospective study includes all ten patients with an IJVT who were seen at our department between January 2000 and January 2004. There were six female and four male patients. The average age was 49.7 years, ranging from 28 to 79 years. RESULTS: In five cases, the thrombosis was associated with a malignant tumor. In four patients, it was caused by a deep neck space infection and in one case the IJVT was due to cervical, intravenous drug abuse. Two patients were found to be pregnant (one tumor patient and one patient with a deep neck space infection). In all cases, a ten day treatment regimen with intravenous antibiotics and anticoagulant therapy was initiated. Oral or subcutaneous anticoagulation was continued for six weeks to six months. No complications were seen in any patient. In three patients a revascularization of the affected vessel could be demonstrated with color-coded duplex sonography six months after the initial presentation. CONCLUSIONS: Thrombosis of the IJV is probably underdiagnosed. Since the clinical presentation may be vague or misleading, a high degree of suspicion is required to make the diagnosis. The potential complications such as pulmonary embolism or intracranial propagation of the thrombus may be fatal. Whenever the thrombosis is not caused by an inflammatory process, a malignant tumor should be excluded. We recommend a therapy with intravenous antibiotics as well as a systemic anticoagulation. Ligation or resection of the internal jugular vein is reserved for patients who develop complications despite adequate medical therapy.

Administration, Oral↗

PubMed2004

[Electrophysiologic examinations in low frequency hearing impairment: clinical and prognostic aspects].

INTRODUCTION: Low-frequency hearing impairment (LFHI) is mainly associated to endolymphatic hydrops and shows a high variety of possible outcomes. Electrophysiologic examinations are widely recommended in diagnostics of LFHI, wheras up to now no data exist about the prognostic value of these examinations in a conservative therapeutic regimen. METHODS: In a quality assessment, we retrospectively evaluated the records of 90 patients, and performed an audiometric follow-up for analysis of long-time hearing data. All patients had undergone diagnostic electrocochleographic examination (ECochG) and then had been treated with rheologic infusions, followed by dehydrating infusions in patients lacking complete remission. The results of both therapeutic strategies and of long-time results were correlated to electrophysiologic findings. RESULTS: The prognosis of LFHI is significantly reflected by pretherapeutic electrocochleographic data. All significant parameters were associated to compound action potential (CAP) whereas parameters associated to cochlear microphonics (CM) did not include any utilizable prognostic value. In patients with a good outcome, the latency of CAP complex was significantly shorter, and the width of CAP complex significantly smaller than in patients with poor hearing outcome after rheologic and after dehydrating therapy and in long time assessment. The relation of summating potential (SP) und CAP was significantly smaller when the outcome was sufficient or good for either therapy and in long time analysis. Steep CAP-input-output-curves were associated to insufficient outcome after rheologic therapy and in long time assessment, but not for dehydrating therapy. CONCLUSIONS: The results indicate that ECochG is of significant prognostic value concerning hearing outcome after conservative therapy in patients suffering from LFHI. It can help the physician to counsel the patient and perform an effective management of the disease. We conclude that ECochG should be performed before the onset of therapy, including collection of SP and CAP data whereas CM parameters may be omitted.

Action Potentials↗

PubMed2004

Etiopathogenetic mechanisms in long-term course of schizophrenia.

Schizophrenia is a severe mental disorder with a relapsing long-term course in 80 % of the sufferers. The underlying neurobiological principles of the long-term course are widely unknown. Therefore an attempt is made to evaluate data from structural imaging and neuropsychology to shed some light on these mechanisms. Interestingly there was a significant correlation between length of illness and volume reduction in the prefrontal grey matter in schizophrenia. There was a lack of such a correlation for the whole brain volume, white matter volume or the grey matter volume outside the prefrontal lobe. Furthermore none of the neuropsychological measures correlated with length of illness. Both findings are supported by data from prospective studies up to five years demonstrating a significant loss of frontal grey matter volume, but no change of cognitive dysfunction in the course of time. The attempt is made to connect prefrontal grey matter loss with post-mortem findings of reduced neuropil but preserved cytoarchitecture leading to recently described candidate genes and their function.

Brain↗

PubMed2004

Neuroimaging and 5-HT2C receptor polymorphism: a HMPAO-SPECT study in healthy male probands using mCPP-challenge of the 5-HT2C receptor.

BACKGROUND: The human 5-HT (2C) receptor gene has been localized on the X chromosome and is expressed in two genetic variants. Whereas previous investigations have suggested that the 5-HT (2C) receptor gene polymorphism is critically involved in the pathogenesis of affective and eating disorders, as yet the functional consequences being associated with the rare serine variant of the 5-HT (2C) receptor in humans are unclear. METHODS: We explored by HMPAO-SPECT if a challenge with the serotonin agonist mCPP, that interacts mainly with the 5-HT (2C) receptor, provokes different patterns of regional cerebral bloodflow (rCBF) as a function of the genetic variant of the receptor. Thus we studied its action in 16 healthy male volunteers carrying the common 5-HT (2C)-cys-23 receptor gene and 16 healthy male volunteers carrying the less frequent 5-HT (2C)-ser-23 receptor gene. RESULTS: We found significant differences in rCBF between the two genotypes after mCPP infusion compared to placebo: In the cysteine group rCBF was increased in the left medial prefrontal cortex and decreased in the left anterior cingulate and right medio-temporal cortex, whereas the serine group showed an increase of rCBF in the left medio- and superior-temporal cortex and in cerebellum and a reduced rCBF in the right medial prefrontal cortex. In addition, there was a significant disordinal interaction of the genotype factors and challenge with an increase of rCBF in the serine group and a decrease in the cysteine group in the left motor cortex and calcarine cortex. Additionally, a decrease of rCBF in the serine-group and a simultaneous increase in the cysteine group was found in the right anterior and the left posterior cingulate cortex. CONCLUSION: These findings suggest that differences in the 5-HT (2C) receptor gene polymorphism has functional consequences due to a different responsiveness of the expressed 5-HT (2C) receptor variants.

Adult↗

PubMed2004

High neuroticism and depressive temperament are associated with dysfunctional regulation of the hypothalamic-pituitary-adrenocortical system in healthy volunteers.

OBJECTIVE: Elevated neuroticism, depressive temperament and dysfunctional regulation of the hypothalamic-pituitary-adrenocortical (HPA) system are considered as risk factors for unipolar depression. An interaction of these vulnerability factors was suggested, but controversially discussed. In absence of other informative studies we set out for a replication test and for elucidation of the underlying mechanism. METHOD: Ninety-two subjects recruited in the community-performed assessments of personality and temperament as well as measurement of HPA function with the dexamethasone/corticotropin-releasing hormone (Dex/CRH) test. RESULTS: Cortisol levels subsequent to Dex/CRH challenge were associated with neuroticism; high-neuroticism subjects revealed a higher HPA activation. This difference was mainly because of male subjects >/=25 years. A similar relationship was observed for depressive temperament. CONCLUSION: This constellation may propose that HPA dysregulation is the endocrinological basis for neuroticism and depressive temperament; this result supports the view that distinct personality factors and HPA vulnerability interact in mediating depression.

Adrenal Cortex Hormones↗

PubMed2003

Individual prefabricated titanium implants and titanium mesh in skull base reconstructive surgery. A report of cases.

Titanium implants can be shaped by traditional hand forming, press shaping, modular construction by welding, construction on full-size models shaped from CT coordinates and, most recently, by computer-assisted design and computer-assisted manufacturing (CAD/CAM) that consist in the direct prefabrication of individual implants by milling them out of a solid block of titanium. The aim of our study was to present a set of preliminary cases of an ongoing program of reconstructive procedures of the skull base using titanium implants. The subjects underwent ablative procedures of the skull base with reconstruction either by titanium mesh or individual prefabricated CAD/CAM implants. Six patients have been operated on successfully since 2000: two received prefabricated CAD/CAM titanium plates and four others underwent reconstruction with titanium mesh. The stability of CAD/CAM plates is superior to that of mesh, thus it is more useful in reconstructing large lesions of the frontal skull base and the temporal and occipital bones. Titanium mesh was successfully used for defects smaller than 100 cm(2) or where selected viscerocranial defects are complicated in design and less reproducible by CAD/CAM. The intraoperative design, shaping and adjustment characteristic of titanium mesh can be dispensed with when CAD/CAM implants are used. The 3-D data set used in the CAD/CAM process also operates in the navigated simulation and planning of the ablation contours, the latter being of great assistance in establishing the optimal future defect. As a disadvantage, CAD/CAM technology is more expensive than titanium mesh, and the process is time-consuming as it is carried out in advance of surgery.

Adult↗

PubMed2003

Targeting enzymes involved in spermidine metabolism of parasitic protozoa--a possible new strategy for anti-parasitic treatment.

Sequencing data obtained from the Plasmodium, Anopheles gambiae and human genome projects provide a new basis for drug and vaccine development. One of the most characteristic features in the process of drug development against parasitic protozoa is target identification in a biological pathway. The next step must be a structure-based rational drug design if the target is not only present in the parasite. In mouse models of malaria, such drugs should be tested for efficacy of the new therapies. Here, we present data that pinpoint the existence of two enzymes of the polyamine pathway involved in spermidine metabolism in P. falciparum, i.e. deoxyhypusine synthase (DHS; EC 1.1.1.249) and homospermidine synthase (HSS; EC 2.5.1.45). Recent data obtained from the malaria genome databases showed that at least a putative gene encoding DHS is present in the parasite. Sequencing data from the P. falciparum genome project prove that the eukaryotic initiation factor eIF5A (the substrate for DHS) exists in P. falciparum. Here, we present the amino acid sequence of eIF5A from P. vivax, which causes tertiary malaria. EIF5A from P. vivax shows 82% nucleic acid and 97% amino acid identity to its homologue from P. falciparum. GC/MS data and inhibitor studies with agmatine prove that the triamine homospermidine occurs in the parasite. These data suggest a separate locus encoding HSS in P. falciparum. The hss gene recruits from the dhs gene in eukaryotes. Here, we present genomic DNA fragments obtained by amplification with primers of a conserved region (amino acid positions 550-1,043) between the putative P. falciparum DHS gene ( dhs) and the HSS gene ( hss) from the plant Senecio vulgaris (Asteraceae). The amplification product from different P. falciparum strains reveals differences in sequence identity, compared with the putative dhs gene from P. falciparum strain 3D7. Expression of the full-length clone and determination of HSS-specific activity will finally prove whether a separate region encoding HSS exists.

Alkyl and Aryl Transferases↗

PubMed2003

Family-based and case-control study of catechol-O-methyltransferase in schizophrenia among Palestinian Arabs.

COMT is a ubiquitous enzyme crucial to catechol metabolism. The molecular basis of COMT thermolability, that leads to three to fourfold differences in enzyme activity, is due to a substitution of valine with methionine in the Val158/108Met polymorphism. Of special interest is the role of this gene in major psychoses especially since a microdeletion (22q11) containing the COMT gene (velo-cardio-facial syndrome) also carries with it several types of behavioral disorders, including an increased prevalence of schizophrenia. Almost 20 genetic studies have examined the role of COMT in schizophrenia with ambiguous results. Towards clarifying the role of this polymorphism in conferring risk for psychosis, we examined a large group of culturally and ethnically akin Palestinian Arab schizophrenic triads (N = 276) using both a case-control and family-based study. In 194 informative triads with at least one heterozygote parent, no preferential transmission of either COMT allele was observed in this sample (TDT statistic chi-square = 0.14 NS; 131 COMT valine alleles were transmitted and 125 alleles not transmitted). However, using a case-control design a significant increase (Likelihood ratio = 3.935, P = 0.047) in the valine allele was observed in the group of schizophrenic patients (N = 276) compared to an ethnically matched control group (N = 77). The association was stronger in female patients (P = 0.012) similar to other studies showing that some COMT behavioral effects are gender sensitive. In summary, by case-control design but not by a family-based study, there is a weak effect in female patients of the high activity COMT allele in conferring risk for schizophrenia.

Amino Acid Substitution↗

PubMed2003

[Microsurgical resection of jugular foramen tumors with hearing preservation and without facial nerve palsy].

BACKGROUND: The juxtacondylar microsurgical approach is an adequate alternative to the classical infratemporal approach for the resection of tumors of the jugular foramen. PATIENTS AND METHODS: Retrospectively, we report on our experience with eight patients suffering from tumors of the jugular foramen with different etiologies, who were treated successfully via the juxtacondylar approach with interdisciplinary cooperation. RESULTS: The advantage of the juxtacondylar approach is that there is no need to expose and transpose the facial nerve. Additionally, reduction or translocation of the posterior wall of the auditory canal and removal of the ossicular chain are not necessary. CONCLUSIONS: Tumors of the jugular foramen can be safely removed without damaging the facial nerve or auditory capacity, with a comparatively much better overview over the vascular and neural structures of the jugular foramen. This more neurosurgically orientated skull base approach is not very well known in the ENT surgical literature.

Adult↗

PubMed2003

Human nuclear transcription factor gene CREM: genomic organization, mutation screening, and association analysis in panic disorder.

Panic disorder is an anxiety disorder with an estimated heritability of 48%. Variation in the gene of the nuclear transcription factor "cAMP-responsive element modulator" (CREM) might contribute to its pathogenesis. CREM knock-out mice exhibit significantly less anxiety behavior than wild-type mice and the alternative CREM gene product "inducible cAMP early repressor" (ICER) plays a pivotal role in the hypothalamo-pituitary-adrenal (HPA) axis, which is disturbed in panic disorder. We characterized the genomic organization of the human CREM gene and performed a systematic mutation screening by means of single stranded conformational analysis (SSCA) in a sample of 40 German patients with panic disorder (DSM-III-R). Four novel single nucleotide polymorphisms in CREM promoters P 1 and P 4, one trinucleotide (ATT)-repeat polymorphism in CREM promoter P 2-generating the ICER isoform-and a rare amino acid substitution in CREM exon glut 2 were identified. Association analysis in an extended sample of German patients (n = 88) revealed a significant excess of the shorter CREM P 2 promoter eight-repeat trinucleotide allele and of genotypes containing the eight-repeat trinucleotide allele in panic disorder (P = 0.02), in particular in panic disorder without agoraphobia (P = 0.001). A replication study in independent Italian (n = 76) and Spanish (n = 62) samples, however, failed to confirm this observation. This suggests that the CREM P 2 promoter trinucleotide polymorphism is not a major susceptibility factor in the pathogenesis of panic disorder. Functional analysis of the observed CREM P 2 promoter polymorphism as well as studies in independent panic disorder samples are necessary.

Agoraphobia↗

PubMed2003

[The 4-week prevalence of somatoform disorders and associated psychosocial impairment].

In the course of a WHO study,we report on the prevalence of somatoform disorders (SFD) and the associated psychosocial impairment in five western German primary care settings. In accordance with ICD-10 classification, a 4-week prevalence of 28.5% was found for SFD (number of patients in the age between 18 and 60 with an SFD in the last 28 days). The accumulation of SFD was higher in female patients than in males (RR 1.7), in particular when the number of children was >1 (RR 1.8). The female-male difference was more marked in persistent somatoform pain disorder (RR 2.1) and unspecific somatization disorder (RR 5.0). Concerning other psychiatric disorders, neurasthenia occurred most frequently,with a 4-week prevalence of 8.2%. The 4-week prevalence of concomitant occurrence of SFD and other psychiatric disorders was 7.7%. Working capability was most severely impaired, with 22.5 days of absence from work during the last month, in male patients with hypochondriacal disorder. In comparison, somatization disorder resulted in a severe level of psychosocial impairment, with 10.3 days of absence in work during the last month in female patients. The coexistence of SFS with other psychiatric disorders resulted in a greater extent of psychosocial impairment.

Adolescent↗

PubMed2003

Polymorphism in the peroxisome proliferator-activated receptor alpha gene influences the risk for Alzheimer's disease.

The peroxisome proliferator-activated receptor alpha (PPAR-alpha) is a member of the steroid hormone super family of ligand-inducible transcription factors, involved in glucose and lipid metabolism. We screened for polymorphisms in the PPAR-alpha gene and detected two known polymorphisms located in exon 5 and intron 7. These polymorphisms were investigated for their possible association with Alzheimer's disease (AD) and for their effect in carriers of an insulin gene (INS) polymorphism. The PPAR-alpha C --> G polymorphism in exon 5 (L162V) was associated with AD, in that the V-allele was more frequent in AD patients than in healthy subjects. Further data analysis revealed that carriers of an PPAR-alpha L162V V-allele and an INS-1 allele presented with an increased risk for AD. Cerebrospinal fluid amyloid-beta levels were influenced by PPAR-alpha L162V genotype. These results suggest, that PPAR-alpha polymorphism may be a risk factor for AD.

Aged↗

PubMed2003

Clinical and angiographic outcome of patients with mild coronary lesions treated with balloon angioplasty or coronary stenting. Implications for mechanical plaque sealing.

AIMS: To investigate the clinical and angiographic outcome of patients with mild coronary lesions treated with balloon angioplasty or coronary stenting (coronary plaque sealing, i.e. dilatation of angiographically non-significant lesions) compared to moderate and severe stenoses. METHODS AND RESULTS: Patients with chronic stable angina and a single de novo lesion in a native coronary vessel scheduled to undergo percutaneous coronary intervention (PCI) were selected from 14 different studies. Off-line analysis of angiographic outcomes was assessed in all patients using identical and standardised methods of data acquisition, analysis and definitions. Clinical endpoints were adjudicated by independent clinical events committees. All quantitative coronary angiographic (QCA) analyses were performed in the same core laboratory. Stenosis severity prior to PCI was categorised into three groups: <50% diameter stenosis (DS), 50-99%DS and >99%DS pre. A total of 3812 patients were included in this study; 1484 patients (39%) were successfully treated with balloon angioplasty (BA) only and stented angioplasty was performed in 2328 patients (61%).One-year mortality and rate of non-fatal myocardial infarction (MI) (Kaplan-Meier) did not differ between BA and stented angioplasty for any of the stenosis severity categories. Following BA, the combined event rate (death and non-fatal MI) was 4.8, 4.6 and 0% in the <50, 50-99 and >99%DS categories, respectively. Following stented angioplasty, the combined event rate was 3.1, 4.4 and 4.8% in the same categories. The need for repeat revascularisation corrected for stenosis severity in the Cox proportional-hazards regression model was reduced by 20% after stented angioplasty (hazard ratio (HR) 0.80, 95%CI 0.69-0.93). CONCLUSION: The concept of plaque sealing is appealing from the theoretical point of view. However, with current technology, plaque sealing cannot prevent death and future non-fatal MIs in the long-term because 1-year event rates after PCI of non-significant stenoses remain unacceptably elevated when compared with the estimated 1-year probability of a non-fatal MI in lesions with a <50%DS. Moreover, major adverse cardiac events at 1-year after PCI are not directly related to the degree of pre-procedural stenosis severity.

Angina Pectoris↗

PubMed2003

[Psychiatric comorbidity in risk groups of opioid addiction: a comparison between opioid dependent and non-opioid dependent prisoners (in jail due to the German narcotics law)].

Individuals who do not develop opioid dependence although they have access to opioids might differ with regard to psychiatric risk factors from opioid-exposed subjects who developed opioid dependence. To test this assumption, the present investigation compared individuals who were in jail due to the German "Dangerous Drugs Act" (i. e. particular risk group due to facilitated opioid availability) according to presence or absence of opioid dependence and psychiatric comorbidity in each group. This study design is in line with the assumption that in addition to the (postulated) environmental risk factor of facilitated availability of opioids, psychiatric risk factors enhance the likelihood for the development of opioid dependence. Opioid addicts represent a risk group, not only for other forms of substance dependence, but also psychiatric disorders like anxiety disorders, suicide attempts and specific forms of personality disorders. However the difference between opioid dependent subjects and non-opioid dependent controls was less marked than initially postulated. Alcoholism of non-opioid dependent prisoners also was associated with depressive episodes, anxiety disorders as well as cocaine dependence. Despite the high frequency of life-time psychiatric comorbidity in the opioid dependent sample, this increased comorbidity was not paralleled by psychiatric treatment. In general, the sample of prisoners investigated here, was characterized by a high frequency of psychiatric disorders including substance dependence.

Adult↗

PubMed2003

[The preconditioning and prelamination of pedicled and free microvascular anastomised flaps with the technique of vacuum assisted closure].

BACKGROUND: Since the technique of vacuum assisted closure has been clinically introduced, the possibilities in reconstructive head and neck surgery have greatly increased. Preconditioning and prelaminating allows a pedicled or free flap plasty to be epithelialized on both sides before the flap gets transferred to its future location. METHODS: We describe the technique of preconditioning and prelaminating of pedicled and free microvascular anastomised flap plasties and we report our experience with 5 cases. Our results are compared with data from the literature. RESULTS: The procedures concerned take only little time and the flap gets optimally prepared for its task in view of the postoperatively modified hemodynamics. By preconditioning, the flap to be lifted is prepared for the future centralised blood supply exclusively via the pedicle vessel without leaving the donor side. Thereby the skin island of such flaps can be increased in size over the natural angiosomes without an increased risk of necrotisation. CONCLUSIONS: By the technique of prelamination, skin or mucosa tissue may be applied onto both sides of the flap so that it can resist the biochemical and mechanical tasks which will be required after transposition. Especially for the reconstruction of defects in the upper aerodigestive tract this is a great advantage, since the inner side of the flap has to resist saliva which represents one of the most aggressive secretions in the human body.

Adult↗

PubMed2003

Genetics of schizophrenia and affective disorders.

The molecular-genetic basis of non-mendelian, genetically influenced disorders (complex disorders) is beginning to be uncovered. Recently, major progress in localization and detection of disposition genes of schizophrenia and bipolar disorder was achieved. We provide a comprehensive overview of recent results of linkage and association studies in schizophrenia and bipolar disorder. Several disposition genes for schizophrenia (DTNBP1, NRG1, G72) were identified, whereas evidence for specific disposition genes in bipolar disorder is more limited. Multiple limitations of current research strategies in the search of disposition genes of complex disorders have to be considered; alternative phenotype definitions, genome-wide association studies and parallel investigation of epigenetic misregulations might overcome these limitations.

Animals↗

PubMed2002

Norepinephrine transporter gene (NET) variants in patients with panic disorder.

Several lines of evidence suggest that catecholamines, especially norepinephrine, are implicated in the etiology and/or symptomatology of panic disorder (PD). At the cellular level, functional noradrenergic neurotransmission depends on synaptic reuptake of norepinephrine as mediated by the norepinephrine transporter (NET). A pharmacological target of agents with an established anti-panic efficacy, e.g. tricyclic antidepressants, the NET is of particular interest in PD. We investigated the NET gene for the presence of 6 naturally occurring exonic sequence variants, 5 of which give rise to amino acid substitutions (Val69Ile, Thr99Ile, Val245Ile, Val449Ile and Gly478Ser) in a population of 87 patients with PD and 89 healthy controls. Except for a silent substitution (G1287A), overall frequencies of variant alleles were low (< or =0.016). None of the variants under study was found to be associated with PD regardless of an additional diagnosis of agoraphobia.

Amino Acid Substitution↗