Clinical diagnosis of multiple system atrophy: level of agreement between Quinn's criteria and the consensus conference guidelines.
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Diagnostic Techniques, Neurological↗
Biomedical subjects
G Fabbrini
Publications and source records attributed to G Fabbrini.
Reduced density of dopamine D2-like receptors on peripheral blood lymphocytes in Alzheimer's disease.
Clinical and pathological evidence points to an involvement of dopamine in Alzheimer's disease (AD). The present study was designed to assay dopamine D1-like and D2-like receptors on peripheral blood lymphocytes (PBL) in 20 patients with AD and in 25 healthy controls by radioligand binding assay techniques with [3H][R]-(+)-(-)chloro-2,3,4,5 tetrahydro-5-phenyl-1H-3-benzazepin-al-hemimaleate (SCH 23390) and [3H]7-hydroxy-N,N-di-n-propyl-2-aminotetraline (7OH-DPAT) as radioligands. The density of dopamine D1-like receptors and the affinity of [3H]SCH 23390 and [3H]7OH-DPAT binding to PBL were similar in both groups investigated. AD patients revealed a lower density of dopamine D2-like receptors on PBL than controls (P=0. 0016). The pharmacological profile of [3H]SCH 23390 and [3H]7OH-DPAT binding to PBL was consistent with the labeling of dopamine D5 and D3 receptor subtypes, respectively. The reduced density of dopamine D2-like receptors on PBL is consistent with the observation of changes in the expression of D2-like receptors in dopaminergic brain areas in AD. Our findings support the hypothesis of an involvement of dopamine in AD, even in those patients with no evidence of Parkinsonism, behavioral abnormalities or psychosis.
Aged↗
Smoking habits in multiple system atrophy and progressive supranuclear palsy. European Study Group on Atypical Parkinsonisms.
OBJECTIVE: To evaluate smoking habits in patients with multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) in a multicenter case-control study to determine whether these two forms of atypical parkinsonism share the inverse association with smoking previously found in PD. BACKGROUND: No epidemiologic studies have been performed on smoking habits in MSA. A previous investigation in PSP revealed no differences in smoking habits between patients and hospital control subjects. METHODS: Seventy-six MSA patients, 55 PSP patients, 140 PD patients, and 134 healthy control subjects were enrolled consecutively at seven neurologic clinics from January 1, 1994, to July 31, 1998. Detailed information on smoking habits was obtained using a structured questionnaire. RESULTS: The comparison between frequencies of never-smokers versus ever-smokers (ex-smokers/current smokers; adjusted odds ratio [ORadj], 0.56; 95% CI, 0.29 to 1.06) and a dose-response analysis for never-smokers, moderate smokers (ORadj, 0.64; 95% CI, 0.31 to 1.32), and heavy smokers (ORadj, 0.47; 95% CI, 0.21 to 1.05) suggest that MSA patients smoke less than population control subjects. By contrast, the comparison of frequencies of never-smokers versus ever-smokers (ORadj, 0.91; 95% CI, 0.42 to 1.98) and a dose-response analysis for never-smokers, moderate smokers (ORadj, 0.68; 95% CI, 0.27 to 1.69), and heavy smokers (ORadj, 1.24; CI 95%, 0.51 to 3.06) revealed no differences in smoking habits between PSP patients and population control subjects. CONCLUSIONS: The fact that the inverse association with smoking found previously in PD is shared by multiple system atrophy but not by progressive supranuclear palsy lends epidemiologic support to the notion that different smoking habits are associated with different groups of neurodegenerative disease.
Aged↗
Migraine patients show an increased density of dopamine D3 and D4 receptors on lymphocytes.
Recent studies have revealed peculiar functional and genetic features of dopamine receptors in migraine. As peripheral blood lymphocytes (PBL) may represent a tool for peripheral detection of neuroreceptors, we compared the expression of dopamine D3 (DRD3) and D4 (DRD4) receptors on PBL in migraine patients and in healthy controls using radioligand binding assay techniques in the presence of antidopamine D2-like receptor antibodies. The dopamine D2-like receptor agonist [3H]7-OH-DPAT was used as a radioligand. An increased density of both DRD3 (P=0.0006) and DRD4 (P=0.002) on PBL was observed in migraineurs compared with controls. This up-regulation might reflect central and/or peripheral dopamine receptor hypersensitivity due to hypofunction of the dopaminergic system. These findings support the view that dopamine D2-like receptors are involved in the determination of the so-called migraine trait, which may help to elucidate several clinical features of the disease.
Adult↗
Dopamine and migraine: does Parkinson's disease modify migraine course?
As brainstem mechanisms and dopaminergic neurotransmission are involved in migraine pathophysiology, we decided to investigate the course of migraine in Parkinson's disease (PD), the paradigm of brainstem dopaminergic disease. We screened 237 consecutive PD out-patients by direct interview to assess the prevalence of lifetime and current migraine. Moreover, we compared the course of migraine in PD patients with that of otherwise healthy age- (+/- 3 years) and sex-paired migraine controls in a cross-sectional study. PD patients showed a lifetime migraine prevalence of 27.8% and a current migraine prevalence of 13.1%. A positive family history of migraine was less frequent in PD patients than in controls. The frequency of current migraine was significantly lower in PD patients than in controls (47.0% vs. 68.2%; odds ratio = 0.41, 95% confidence interval = 0.19-0.89). Approximately two-thirds of PD patients reported an improvement in or remission of migraine after PD onset. Effects of menopause on migraine course were similar in patients and controls. These findings suggest that PD might somehow shorten the clinical course of migraine. Possible explanations include a prolonged prophylactic effect by chronic dopaminergic therapy or a positive effect of PD pathophysiology, namely nigral degeneration, on migraine mechanisms.
Aged↗
A study of five candidate genes in Parkinson's disease and related neurodegenerative disorders. European Study Group on Atypical Parkinsonism.
OBJECTIVE: To determine whether reported genetic association of polymorphisms in the CYP2D6, CYP1A1, N-acetyltransferase 2 (NAT2), DAT1, and glutathione s-transferase M1 (GSTM1) genes with PD were evident in a population of 176 unrelated patients with sporadic PD and to extend these findings to other disease groups (familial PD [n = 30], ALS [n = 50], multiple system atrophy [n = 38], progressive supranuclear palsy [n = 35], and AD [n = 23]). METHODS: A combination of allele-specific PCR and analysis of restriction fragment length polymorphisms were performed. RESULTS: We genotyped 1,131 individuals. After matching each patient with a control subject by age, sex, ethnicity, and geographic origin, there was no association of any allele/genotype with any of the six disease groups. There was an increased frequency of NAT2 slow acetylators in the ALS group compared with controls (70% versus 50%; OR 2.33 [95% CI, 1.03 to 5.30]), but this was not significant after adjusting for multiple testing. CONCLUSIONS: This is one of the most extensive candidate gene studies performed in PD and the first time that some of these loci have been studied in multiple system atrophy and progressive supranuclear palsy. In contrast with previous studies, we found no role for these polymorphisms in the etiology of PD, ALS, multiple system atrophy, progressive supranuclear palsy, or AD.
Aged↗
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases.
Mutations in coding exons or exon 10 5'-splice-site of the gene for microtubule-associated protein tau can cause chromosome 17-linked frontotemporal dementia and parkinsonism (FTDP-17). We sequenced the 11 coding exons plus exon-intron boundaries of the tau gene in 15 cases of progressive supranuclear palsy (PSP), and found no mutations in coding exons or exon ten 5'-splice sites. These data indicate that typical PSP is not associated with tau gene mutations similar to those causing FTDP-17. We also observed a +39deltaG base change in the intron following exon 4 in three out of 69 PSP cases (all three Italians), whereas it was not found in 150 Dutch controls and once in 112 Italian controls. The +39deltaG variant arose in the context of the PSP-associated tau H1 haplotype. Although a pathogenic role cannot be entirely excluded, +39deltaG is likely to be a rare polymorphism that may be in linkage disequilibrium with a biologically relevant locus inside or near to the tau gene.
Aged↗
Increased expression of dopamine receptors on lymphocytes in Parkinson's disease.
Dopamine D1-like and D2-like receptors on peripheral blood lymphocytes (PBL) were assayed in 50 de novo patients with idiopathic Parkinson's disease (PD), in 36 neurologic control subjects (multiple-system atrophy, n = 16; essential tremor, n = 10; other neurodegenerative diseases, n = 10), and in 26 healthy control subjects by radioligand binding assay techniques using [3H]SCH 23390 and [3H]7OH-DPAT as ligands. Patients with PD revealed a higher density (Bmax) of dopamine D1-like (p <0.001) and D2-like (p <0.00001) receptors on PBL than either neurologic or healthy control subjects, whereas no differences in Bmax were observed among patients affected by other neurologic diseases and healthy control subjects. The affinity (Kd) of both radioligands was similar in the groups investigated. The pharmacologic profile of [3H]SCH 23390 and [3H]7OH-DPAT binding was consistent with the labeling of dopamine D5 and D3 receptor subtypes, respectively. Twenty-five of the 50 patients with PD were retested after 3 months of therapy with levodopa or bromocriptine. Both treatments reduced the density of D1-like (p <0.001) and D2-like (p <0.001) receptors on PBL to values comparable to those of control subjects. The increased density of D1-like and D2-like receptors on PBL in de novo PD patients may represent an upregulation mechanism resulting from the diffuse impairment of the dopaminergic system in PD.
Aged↗
Alpha-dihydroergocryptine in the prophylaxis of migraine: a multicenter double-blind study versus flunarizine.
This multicenter, double-blind, clinical study was designed to compare the efficacy and safety of alpha-dihydroergocryptine and flunarizine in the prophylaxis of migraine without aura. One hundred thirty-five patients fulfilling the diagnostic criteria of the International Headache Society were enrolled at five neurologic centers. The study design included a 1-month pretreatment phase with placebo; a 6-month, double-blind, double-dummy treatment phase with alpha-dihydroergocryptine (10 mg twice daily) or flunarizine (5 mg once daily); a further 3-month follow-up phase without treatment. Efficacy was assessed using the patient's diary. Laboratory tests, vital signs, and adverse events were monitored. Analysis of covariance for repeated measures was performed on the intent-to-treat sample. Both treatments led to a significant reduction in the frequency of migraine, days with headache, and use of relief medication. Overall, 51% of those treated with alpha-dihydroergocryptine and 49% of those treated with flunarizine were responders (50% or greater reduction in attack frequency), the average percentage of reduction being 64% with alpha-dihydroergocryptine and 51% with flunarizine. There was no significant difference between the two groups in terms of incidence of adverse events; dizziness and weight gain were the most frequent observed adverse events with alpha-dihydroergocryptine and flunarizine, respectively. Based on the overall improvement in migraine parameters, alpha-dihydroergocryptine can be recommended for use in migraine prophylaxis.
Adult↗
Antipanic effect of fluoxetine measured by CO2 challenge test.
BACKGROUND: Respiratory symptoms are important in panic disorder for frequency and intensity. Patients with this disorder are often chronic hyperventilators, and inhalation of carbon dioxide is a strong panicogenic stimulus. We tested the hypothesis of whether respiratory parameters may be used as indicators of the course of panic disorder during its treatment with fluoxetine. METHODS: Nine patients with panic disorders, previously shown to panic in response to intravenously administered lactate, and 10 control subjects underwent the Read rebreathing test by a 5-min inhalation of a 7% CO2/93% O2 mixture before and after 1 month of fluoxetine treatment. RESULTS: At baseline, patients differed from controls for higher percent value of expiratory reserve volume/vital capacity ratio and ventilatory response. Eight of the 9 patients had panic in response to the CO2 challenge. After fluoxetine, respiratory parameters decreased significatively, and only 3 patients remained hypercarbic challenge responders. CONCLUSIONS: The carbon dioxide challenge may represent a useful tool to evaluate the individual respiratory set, which may be a marker of the vulnerability to panic attack. Assessment of respiratory parameters may represent a biological marker to measure the efficacy of antipanic treatment.
Adult↗
Presymptomatic hypertension in progressive supranuclear palsy. Study Group on Atypical Parkinsonisms.
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Aged↗
A ten-year experience of Brescia-Cimino arteriovenous fistula in children: technical evolution and refinements.
PURPOSE: The arteriovenous fistula (AVF) of Brescia-Cimino fulfills nearly all of the criteria for an optimal access for chronic hemodialysis, such as long-term patency rate, low complication rate, and respect of vascular morphologic features. Alternative dialytic methods (i.e., external shunts and vascular grafts) cannot easily be applied to pediatric patients, and in addition, these methods are responsible for higher complication rates. METHODS: From January 1985 to December 1994, 112 Brescia-Cimino AVFs were performed in 90 children (average age, 5.5 years; range, 5 months to 18 years). The average weight of the children was 28 kg (range, 6.5 to 54 kg); 16% of AVFs were performed in children who were less than 5 years old, and 18% in children who were less than 15 kg in body weight. RESULTS: Chronic renal failure was caused by a nephropathy in 53 cases (14 with a nephrotic syndrome), and 37 cases had a uropathy. In all cases a phlebography was performed before the microsurgical treatment. Since 1994 an inflatable tourniquet has been placed on the selected upper arm because of an optimal exsanguination of the operating field. The primary patency rate was obtained in all but six of the children; 35% of AVFs had either immediate or late complications. Thrombosis was the most frequent complication that we observed. In comparison with 79% of late thrombosis, 60% of early thrombosis was cured. Of the 80 AVFs, 63.5% with a 4-year follow-up are still patent. CONCLUSION: We emphasize the following two conclusions: first, microsurgery is essential to create AVFs with good results in children as well as in adult patients; and second, the results improved after the adoption of an upper-arm exsanguination and ischemia (pressure range, 400 mm Hg to 600 mm Hg) that avoided spasm of the vessels with a final 35% reduction in surgical time.
Adolescent↗
Amitriptyline is effective in chronic but not in episodic tension-type headache: pathogenetic implications.
The tricyclic antidepressant, amitriptyline, is an effective drug for the treatment of chronic tension-type headache and for other chronic pain syndromes, but it is also effective in the prophylaxis of an episodic type of headache such as migraine. However, its efficacy in episodic tension-type headache has not yet been clarified. We compared the efficacy of amitriptyline (25 mg/day) in 82 nondepressed patients with either chronic or episodic tension-type headache in an open-label study. Amitriptyline significantly reduced (P < 0.05) frequency and duration of headache as well as analgesic consumption in chronic, but not in episodic, tension-type headache. Further placebo-controlled trials, possibly with higher doses of amitriptyline, might confirm if the different pattern of response to amitriptyline can be explained in terms of different involvement of central nociception and of peripheral myofascial factors in the chronic and in the episodic forms of tension-type headache.
Adrenergic Uptake Inhibitors↗
Direct genetic evidence for involvement of tau in progressive supranuclear palsy. European Study Group on Atypical Parkinsonism Consortium.
OBJECTIVE: To confirm whether a dinucleotide repeat sequence in an intron of the microtubule-associated protein tau is associated with progressive supranuclear palsy (PSP) in an independent study population and to establish an improved methodology for allelotyping. BACKGROUND: It has recently been reported that a genetic variant of tau, known as the A0 allele, was represented excessively in PSP patients when compared with control subjects. METHODS: In a multicenter study, the authors examined the allelic distribution of this dinucleotide repeat marker in a set of clinically ascertained PSP patients (n = 30), multiple system atrophy (MSA) patients (n = 35), and matched control subjects (n = 70). Individuals were allelotyped using automated analysis of fluorescently labeled PCR products. RESULTS: The A0 allele was significantly overrepresented in the PSP patients (93.3% versus 76.4%; p = 0.0067; odds ratio [OR] = 4.33; 95% confidence interval [CI], 1.36 to 13.60), but not in the MSA patients. Likewise, A0 homozygotes were overrepresented in the PSP group (86.7% versus 61.1%; p = 0.02; OR = 4.14; 95% CI, 1.19 to 14.48) compared with control subjects. CONCLUSIONS: The findings of this study, which is the largest to date, support those of a previous investigation that used pathologically confirmed PSP patients. These data provide additional strong evidence that genetic variation at or near the tau gene plays an important role in the pathogenesis of PSP.
Aged↗
Anticipation of onset age in hereditary essential tremor.
The genetic anticipation phenomenon has been described in several neurological disorders, often associated with unstable trinucleotide repeats in the affected genes. The occurrence of this phenomenon in hereditary essential tremor is still debated. We describe a family in which three male members with essential tremor showed a progressive anticipation in onset age and an increased severity of clinical symptomatology.
Adult↗
Dopamine hypersensitivity in migraine: role of the apomorphine test.
We investigated the effects of apomorphine administration at two different doses (2-10 micrograms/kg, s.c.) in 35 migraineurs in headache-free period and in 20 age-matched healthy control subjects, with and without pretreatment with domperidone. Neither patients or controls complained of headache at either dose, whereas at the dose of 10 micrograms/kg migraineurs showed a statistically significant higher incidence of dopaminergic symptoms (nausea, vomiting, drowsiness, yawning, dizziness, sweating) than controls. Furthermore, symptoms due to postsynaptic dopamine receptors activation (i.e., nausea and vomiting) only appeared in migraineurs. No symptom, however, resembled those characterizing a spontaneous migraine attack. In conclusion, migraineurs show a lower threshold for dopamine receptor activation than normal subjects.
Adult↗
Increased density of dopamine D5 receptor in peripheral blood lymphocytes of migraineurs: a marker for migraine?
The expression of dopamine D5 receptor was investigated in peripheral blood lymphocytes of 11 migraine patients and of ten healthy control subjects using a radioligand binding technique with [3H]SCH 23390 as a ligand. [3H]SCH 23390 is a benzazepine derivative with potent antagonist properties at the dopamine D1-like receptors. [3H]SCH 23390 was specifically bound to peripheral blood lymphocytes of migraineurs and control subjects in a manner consistent with the labelling of a dopamine D5 receptor. In migraineurs a statistically significant higher density of lymphocyte dopamine D5 receptor compared with controls was noticeable, whereas the affinity of the radioligand was unchanged. The increased density of dopamine D5 receptor in peripheral blood lymphocytes may reflect the dopaminergic hypersensitivity displayed by migraineurs and may represent a relatively simple and reliable peripheral marker of altered dopaminergic function.
Adult↗