Primary blepharospasm: diagnosis and management

Primary blepharospasm is an adult-onset focal dystonia characterised by involuntary contractions of the orbicularis oculi muscles. Patients may have various types of movements arising from the different parts of the orbicularis oculi muscle. These include typical blepharospasm associated with Charcot's sign, pretarsal blepharospasm and flickering of the eyelids. Primary blepharospasm may be associated with so-called apraxia of eyelid opening as well as dystonia in the lower face, jaw or cervical muscles. Unless there are clinical clues to a symptomatic cause, adults presenting with blepharospasm do not require extensive aetiological investigation because the condition is rarely due to an identifiable condition. As the aetiology of primary blepharospasm is largely unknown, therapeutic approaches are symptomatic, with type A botulinum toxin being the treatment of choice.     

Neurological research in Italy in 2003 and 2004

Abstract We quantified Italian researchers’ share of the scientific papers published in peer-reviewed medical Journals in the field of neurology in 2003 and 2004. The findings show that Italian researchers’ gained an overall 7% share of peer-reviewed articles. This percentage places Italy in fourth place immediately after the United States, Grat Britain and Germany. A. Berardelli • I. Barberini • G. Defazio • G.L. Mancardi C. Messina Executive Committee of the Italian Neurological Society     

Does sex influence age at onset in cranial-cervical and upper limb dystonia?

The relation between age at dystonia onset and sex was investigated in 264 patients with cranial-cervical dystonia and 56 patients with upper limb dystonia. In cranial-cervical dystonia, women had a significantly greater age at the onset of dystonia than men. The association was independent of duration of disease and distance of referral, but it was no longer detectable after adjustment for educational level. In upper limb dystonia, men and women did not differ for age at dystonia onset, duration of disease, education level, or distance of referral. A significant inverse association between age at the onset of dystonia and education was observed in both cranial-cervical dystonia and upper limb dystonia series.     

Inspection of back surface aspheric contact lenses

Two methods of clinically inspecting and verifying rigid back surface aspheric contact lenses were investigated. A modification of the Radiuscope was found to be an accurate method for making such measurements. Measurement data of a number of aspheric lenses obtained by using this procedure are presented.     

Prevalence of primary blepharospasm in a community of Puglia region, Southern Italy

The authors ascertained the prevalence of primary blepharospasm (BSP) in a community located in Puglia, a region in Southern Italy, by focusing on neurologists and ophthalmologists. The crude prevalence rates were 133 per million (95% CI, 61--153) for both focal and segmental BSP, 74 per million (95% CI, 24--173) for focal BSP, and 59 per million (95% CI, 16--151) for segmental BSP. Prevalence rate increased with age. Apraxia of eyelid opening and BSP coexisted in one third of cases.     

Interferon β-1a downregulates TNFα-induced intercellular adhesion molecule 1 expression on brain microvascular endothelial cells through a tyrosine kinase-dependent pathway

TNFα (100 U/ml, 24 h) upregulated intercellular adhesion molecule 1 (ICAM1) expression on brain microvascular endothelial cell (BMEC) culture. The tyrosine kinase (TK) inhibitor genestein (100 μg/ml), the protein kinase C (PKC) inhibitor staurosporin (1 nM), and interferon (IF) β-1a (1000 U/ml) antagonized TNFα effect. When an ineffective dose of IFβ-1a (100 U/ml) was challenged with ineffective doses of either genestein (10 μg/ml) or staurosporin (0.1 nM), the combination IFβ-1a–genestein significantly reduced TNFα-induced ICAM1 expression whereas IFβ-1a–staurosporin did not. These findings indicate that a TK- rather than a PKC-dependent mechanism is involved in the modulation of TNFα response by IFβ-1a on BMECs.     

Manganese toxicity in serumless dissociated mesencephalic and striatal primary culture

Exposure to elevated levels of Manganese (Mn) can result in an irreversible brain disease characterized by extrapyramidal signs and symptoms resembling Parkinson's disease. To identify the neuronal target of Mn neurotoxicity, MnCl₂ was added to serumless dissociated mesencephalic-striatal cultures from rat embryo on day 4 in vitro. High affinity ³H-dopamine (DA) and ¹⁴C-GABA uptakes were assessed as specific functional markers of DAergic and GABAergic cell viability, respectively. After 60-min exposure, MnCl₂ at 0–200 μM did not modify the morphologic appearance of the cultures, specific DA and GABA uptakes, or the number of DA neurons visualized by immunocytochemical staining with tyrosine hydroxylase. In contrast, culture exposure to 20 μM MnCl₂ for 24 h selectively reduced specific GABA uptake without affecting specific DA uptake or the number of DA neurons. The exposure to a higher MnCl₂ concentration was accompanied by signs of general toxicity. Striatal GABA neurons seemed to be more susceptible to Mn toxicity than mesencephalic GABA neurons. Overall, our data suggest that striatal neurons rather than mesencephalic DA neurons may be the main target of Mn neurotoxicity.     

Toxicity of fungicides containing ethylene-bis-dithiocarbamate in serumless dissociated mesencephalic-striatal primary coculture

 Agricultural exposure to the organomanganese fungicide MANEB (manganese-ethylene-bis-dithiocarbamate) may induce an extrapyramidal syndrome resembling parkinsonism. To evaluate the relative role of manganese (Mn) and ethylene-bis-dithiocarbamate (EBDTC) in the hazard of organomanganese fungicides, we studied the effects of MANCOZEB (Mn-Zinc-EBDTC) and ZINEB (Zinc-EBDTC) on serumless dissociated mesencephalic-striatal primary coculture. High affinity ³H-dopamine (DA) and ¹⁴C GABA uptakes as well as immunocytochemical staining of tyrosine hydroxylase (TH)-containing cells were used as specific functional markers of DA and GABA neuron viability. Both MANCOZEB and ZINEB, at 10 and 50 μM concentrations, dose dependently reduced DA and GABA viability parameters. These data suggest that EBDTC rather than Mn may be primarily responsible for the cytotoxicity of organomanganese fungicides on neuronal systems relevant to the pathophysiology of parkinsonism. Received: 24 October 1995/Accepted: 10 January 1996     

一项原发性睑痉挛的家族研究

背景：以往的家族研究表明，睑痉挛（BSP）可以在家族中集中发病，但是有关研究并未提供关于BSP家族聚集特征及程度的准确可靠的资料。目的：评估家族性及非家族性BSP病例的发病率、家族内肌张力障碍的临床表现、遗传模式及外显率程度。方法：根据56个原发性BSP先证家族一级亲属的检查结果进行本项研究。结果：56个家族共有436例潜在的一级亲属，296例存活，对其中233例受试者进行检查。至少有1例一级亲属发生BSP或成年发病的肌张力障碍而不是BSP的比例为27％。在家族内出现肌张力障碍的显著表型变异性，计算BSP先证者同胞及子女的分离比。假定成年发病的肌张力障碍为常染色体显性遗传，其外显率约为20％。结论：本项家族性研究的结果与对BSP患者家族的精确测算相关，并且有助于确定研究BSP遗传易感性的最适当方案。