L Fidani

Publications (15)136.67 Total impact

• Article: Pharmacological treatment and the prospect of pharmacogenetics in Parkinson's disease.

  K Kalinderi, L Fidani, Z Katsarou, S Bostantjopoulou
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  ABSTRACT: Parkinson disease (PD) is a progressive movement disorder marked by tremor, rigidity, bradykinesia and postural instability. Levodopa (l-dopa), usually combined with a peripheral dopa decarboxylase inhibitor, has been proved to provide the best symptomatic benefit for PD. However, its long-term efficacy is limited because of motor complications and drug-induced dyskinesia. Dopamine agonists, catechol-O-methyltransferase inhibitors and monoamine oxidase-B inhibitors are anti-parkinsonian (anti-PD) drugs that have been found to further improve the potency of l-dopa and prevent the onset of motor complications. However, as PD is a progressive disorder, all the drugs used for its therapy, manifest reduced efficacy and adverse effects with time. Research on the field of pharmacogenetics has pointed out that the genetic variability of each individual determines to a large extent the inter-individual variability in response to anti-PD drugs. Clinicogenetic trials show that drug efficacy or toxicity or susceptibility to side effects are features governed by genetic principles. This article is a review of the present pharmacological treatment of PD and current pharmacogenetic data for PD.
  International Journal of Clinical Practice 12/2011; 65(12):1289-94. · 2.41 Impact Factor
• Article: No association of the Val158Met COMT polymorphism with Parkinson's disease in the Greek population.

  K Kalinderi, L Fidani, G Kourtesi, Z Katsarou, E Mioglou, S Bostantjopoulou
  European Journal of Neurology 09/2008; 15(8):e83. · 3.69 Impact Factor
• Article: The G2019S LRRK2 mutation is uncommon amongst Greek patients with sporadic Parkinson's disease.

  K Kalinderi, L Fidani, S Bostantjopoulou, Z Katsarou, A Kotsis
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  ABSTRACT: Parkinson's disease (PD) is the second most common neurodegenerative disorder affecting approximately 2% of the population >60 years of age. Although, the etiology of PD is still unknown, the genetic background of the disease has been documented. Recently, a mutation in the LRRK2 gene, G2019S, was associated with 3-41% and 1-2% of familial and sporadic PD, respectively suggesting a pivotal role of LRRK2 in PD. In this report, we examine the association of the G2019S mutation with sporadic late-onset PD, in an independent cohort of Greek patients and controls.
  European Journal of Neurology 10/2007; 14(10):1088-90. · 3.69 Impact Factor
• Article: Association of phosphodiesterase 4D gene G0 haplotype and ischaemic stroke in a Greek population.

  L Fidani, J Clarimon, A Goulas, A I Hatzitolios, W Evans, E Tsirogianni, J Hardy, A Kotsis
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  ABSTRACT: We have examined the association of phosphodiesterase 4D (PDE4D) single nucleotide polymorphism (SNP45) and microsatellite marker AC008818-1 with ischaemic stroke, in an independent cohort of Greek patients and control individuals with no clinical manifestations of vascular disease. Significantly different distributions were observed with respect to the AC008818-1 alleles, with allele 148 associating with an increased risk of stroke incidence, and allele 144 with a protective effect. In addition, the haplotype defined by allele 148 and G allele of SNP45 was found to be significantly increased in patients even though no statistically significant differences emerged with respect to SNP45 alone. The previously established association of a PDE4D gene haplotype with ischaemic stroke in a population from Iceland was independently confirmed in our Greek population, suggesting that PDE4D may be involved in the aetiology and pathogenesis of stroke.
  European Journal of Neurology 08/2007; 14(7):745-9. · 3.69 Impact Factor
• Article: Giant-cell tumor of the rib in a 12-year-old girl: a case report.

  F Athanassiadou, L Fidani, A Stefanidis, G Karkavelas, T Papageorgiou, M Hatzistilianou
  Pediatric Hematology and Oncology 07/2003; 20(4):351-5. · 0.89 Impact Factor
• Article: Acute lymphoblastic leukemia and urticaria pigmentosa in an infant.

  F Athanassiadou, L Fidani, T Papageorgiou, M Hadjistylianou, D Catriu
  Medical and Pediatric Oncology 06/2000; 34(5):368-9.
• Article: Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies: a clinical and pathological study.

  J Brown, P L Lantos, P Roques, L Fidani, M N Rossor
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  ABSTRACT: Clinical, pathological and molecular genetic data are presented in two families in which 15 individuals have developed a progressive dementia. Clinical details are available in 10 individuals, neuropathological data in 2. Affected individuals presented between the ages of 43 and 59 years with personality change or memory loss. All individuals developed a progressive dementia with features of frontal lobe dysfunction. Affected individuals commonly developed additional features which included dysphasia, parkinsonism, limb clumsiness and disequilibrium. Duration to death was between 3 and 13 years. Pathological examination of one individual from each family revealed a combination of features not previously described in a familial dementia. Macroscopic examination revealed lobar atrophy. Microscopy revealed neuronal loss and gliosis with swollen achromatic neurons in the cortex and corticobasal inclusion bodies in the substantia nigra. On clinical assessment these families have many features of Pick's disease but pathological examination reveals features more suggestive of corticobasal degeneration.
  Journal of the Neurological Sciences 02/1996; 135(1):21-30. · 2.35 Impact Factor
• Article: A novel silent variant at codon 711 and a variant at codon 708 of the APP sequence detected in Spanish Alzheimer and control cases.

  R Adroer, C Lopez-Acedo, R Oliva, J Hardy, L Fidani
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  ABSTRACT: Pathogenic mutations have been identified in exons 16 and 17 of the beta-amyloid precursor protein (APP) gene in some cases of early onset Alzheimer's disease. Screening of these exons in a number of familial and sporadic cases of Alzheimer's disease in Spain, resulted in the identification of a novel silent variant at codon 711 whose relevance to the AD pathogenesis remains unclear. The 708 variant was also detected in one of normal controls.
  Neuroscience Letters 03/1993; 150(1):33-4. · 2.11 Impact Factor
• Article: A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene.

  M Mullan, H Houlden, M Windelspecht, L Fidani, C Lombardi, P Diaz, M Rossor, R Crook, J Hardy, K Duff
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  ABSTRACT: Although mutations in the beta-amyloid precursor protein gene (APP) on chromosome 21 cause some cases of early-onset Alzheimer's disease (AD), most cases evidently do not have mutations in APP. We analysed ten early-onset families for linkage to APP and markers elsewhere in the genome. One family (F172) was consistent with linkage to chromosome 21 and was subsequently found to have an APP Val to Ile mutation. Of the others, all but one were consistent with linkage to markers in the middle long arm of chromosome 14. However, no family showed independent evidence of linkage with two point analysis and only one showed independent evidence of linkage on multipoint analysis. Therefore, we cannot rule out heterogeneity at these loci although tests for heterogeneity were not significant.
  Nature Genetics 01/1993; 2(4):340-2. · 35.53 Impact Factor
• Article: Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile.

  L Fidani, K Rooke, M C Chartier-Harlin, D Hughes, R Tanzi, M Mullan, P Roques, M Rossor, J Hardy, A Goate
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  ABSTRACT: Following the identification of mutations in the beta-amyloid precursor protein (APP) gene in familial, early onset Alzheimer's disease (AD), we have developed a screening protocol using single strand conformation analysis (SSCA) to screen exon 17 for the known mutations within APP. In addition, we used this protocol to screen the other seventeen exons of APP and a three hundred and thirty base pair regulatory region of the promoter for new mutations in 9 families with early onset AD. Exons 16 and 17, which encode the deposited beta-amyloid peptide, were screened in a further 10 families. Our screening procedure identifies all the reported mutations within APP. While we have identified a further family with APP717 Val-->Ile, we did not find any previously undescribed mutations. Screening of other exons of APP in 2 families in which we have previously reported mutations at APP717, failed to reveal other sequence abnormalities supporting the hypothesis that the mutations at APP717 cause the disease in these families. These data suggest that mutations in APP are a rare cause of familial early onset AD (3/21 families tested) and that within APP most, possibly all, mutations which cause AD are in exon 17.
  Human Molecular Genetics 07/1992; 1(3):165-8. · 7.64 Impact Factor
• Article: Mutations in APP and their role in beta-amyloid deposition.

  L Fidani, A Goate
  Progress in clinical and biological research 02/1992; 379:195-214.
• Article: Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the beta-amyloid sequence.

  F Crawford, J Hardy, M Mullan, A Goate, D Hughes, L Fidani, P Roques, M Rossor, M C Chartier-Harlin
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  ABSTRACT: A mutation within exon 17 at codon 717 of the beta-amyloid protein precursor (APP) gene is one cause of early onset familial Alzheimer's disease. Direct sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with familial early onset Alzheimer's disease without the known pathogenic mutation (APP717) failed to reveal other mutations within the beta-amyloid sequence in this form of the disorder.
  Neuroscience Letters 12/1991; 133(1):1-2. · 2.11 Impact Factor
• Article: Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.

  M C Chartier-Harlin, F Crawford, H Houlden, A Warren, D Hughes, L Fidani, A Goate, M Rossor, P Roques, J Hardy
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  ABSTRACT: A mutation at codon 717 of the beta-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family. This mutation has been reported in a further five out of approximately 100 families multiply affected by Alzheimer's disease. We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 in affected individuals from this family has revealed a base change producing a Val----Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.
  Nature 11/1991; 353(6347):844-6. · 36.28 Impact Factor
• Article: Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.

  A Goate, M C Chartier-Harlin, M Mullan, J Brown, F Crawford, L Fidani, L Giuffra, A Haynes, N Irving, L James
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  ABSTRACT: A locus segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21, close to the amyloid precursor protein (APP) gene. Recombinants between the APP gene and the AD locus have been reported which seemed to exclude it as the site of the mutation causing familial AD. But recent genetic analysis of a large number of AD families has demonstrated that the disease is heterogeneous. Families with late-onset AD do not show linkage to chromosome 21 markers. Some families with early-onset AD show linkage to chromosome 21 markers, but some do not. This has led to the suggestion that there is non-allelic genetic heterogeneity even within early onset familial AD. To avoid the problems that heterogeneity poses for genetic analysis, we have examined the cosegregation of AD and markers along the long arm of chromosome 21 in a single family with AD confirmed by autopsy. Here we demonstrate that in this kindred, which shows linkage to chromosome 21 markers, there is a point mutation in the APP gene. This mutation causes an amino-acid substitution (Val----Ile) close to the carboxy terminus of the beta-amyloid peptide. Screening other cases of familial AD revealed a second unrelated family in which this variant occurs. This suggests that some cases of AD could be caused by mutations in the APP gene.
  Nature 03/1991; 349(6311):704-6. · 36.28 Impact Factor
• Source

  Available from: Arne Brun

  Article: Exclusion mapping in familial non-specific dementia.

  J Brown, S Gydesen, S A Sorensen, A Brun, K Duff, H Houlden, L Fidani, S Kullkarni, J Cummings, A Goate
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  ABSTRACT: We present genetic linkage data in a large family in which non-specific dementia is inherited as an autosomal dominant trait. We have analyzed 45 highly polymorphic microsatellite sequences and excluded a quarter of the genome as the site of the pathogenic mutation in this family.
  Dementia (Basel, Switzerland) 4(3-4):163-6.