Guido Breedveld

Publications (9)81.62 Total impact

• Article: Pseudo-orthostatic and resting leg tremor in a large Spanish family with homozygous truncating parkin mutation.

  Jon Infante, José Berciano, Pascual Sánchez-Juan, Antonio García, Alessio Di Fonzo, Guido Breedveld, Ben Oostra, Vincenzo Bonifati
  Movement Disorders 11/2008; 24(1):144-7. · 4.51 Impact Factor
• Article: The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population.

  Chin-Song Lu, Yah-Huei Wu-Chou, Marina van Doeselaar, Erik J Simons, Hsiu-Chen Chang, Guido J Breedveld, Alessio Di Fonzo, Rou-Shayn Chen, Yi-Hsin Weng, Szu-Chia Lai, Ben A Oostra, Vincenzo Bonifati
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  ABSTRACT: The c.G4883C variant in the leucine-rich repeat kinase 2 (LRRK2) gene (protein effect: Arg1628Pro) has been recently proposed as a second risk factor for sporadic Parkinson's disease in the Han Chinese population (after the Gly2385Arg variant). In this paper, we analyze the Arg1628Pro variant and the associated haplotype in a large sample of 1,337 Han subjects (834 patients and 543 controls) ascertained from a single referral center in Taiwan. In our sample, the Arg1628Pro allele was more frequent among patients (3.8%) than among controls (1.8%; p = 0.004, OR 2.13, 95% CI 1.29-3.52). Sixty heterozygous and two homozygous carriers of the Arg1628Pro variant were identified among the patients, of which only one was also a carrier of the LRRK2 Gly2385Arg variant. We also show that carriers of the Arg1628Pro variant share a common, extended haplotype, suggesting a founder effect. Parkinson's disease onset age was similar in patients who carried the Arg1628Pro variant and in those who did not carry it. Our data support the contention that the Arg1628Pro variant is a second risk factor for Parkinson's disease in the Han Chinese population. Adding the estimated effects of Arg1628Pro (population attributable risk [PAR] approximately 4%) and Gly2385Arg variants (PAR approximately 6%) yields a total PAR of approximately 10%.
  Neurogenetics 09/2008; 9(4):271-6. · 3.35 Impact Factor
• Article: A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene.

  Giovanni Fabbrini, Massimo Pasquini, Cinzia Aurilia, Isabella Berardelli, Guido Breedveld, Ben A Oostra, Vincenzo Bonifati, Alfredo Berardelli
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  ABSTRACT: Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the craniocervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to genetic heterogeneity in TS.
  Movement Disorders 12/2007; 22(15):2229-34. · 4.51 Impact Factor
• Article: Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism.

  Christan F Rohé, Pasquale Montagna, Guido Breedveld, Pietro Cortelli, Ben A Oostra, Vincenzo Bonifati
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  ABSTRACT: Two homozygous mutations in the PINK1 gene, encoding a mitochondrial putative protein kinase, recently have been identified in families with PARK6-linked, autosomal recessive early-onset parkinsonism (AREP). Here, we describe a novel homozygous mutation (1573_1574 insTTAG) identified in an AREP patient, which causes a frameshift and truncation at the C-terminus of the PINK1 protein, outside the kinase catalytic domain. The clinical phenotype includes early-onset (28 years) parkinsonism, foot dystonia at onset, good levodopa response, slow progression, early levodopa-induced dyskinesias, and sleep benefit, thereby resembling closely parkin-related disease. These findings confirm that recessive mutations in PINK1 cause early-onset parkinsonism and expand the associated clinical phenotype.
  Annals of Neurology 10/2004; 56(3):427-31. · 11.09 Impact Factor
• Source

  Available from: Dennis Dooijes

  Article: Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

  Esther van Herpen, Sonia M Rosso, Lies-Anne Serverijnen, Hirotaka Yoshida, Guido Breedveld, Raoul van de Graaf, Wouter Kamphorst, Rivka Ravid, Rob Willemsen, Dennis Dooijes, Daniëlle Majoor-Krakauer, Johan M Kros, R Anthony Crowther, Michel Goedert, Peter Heutink, John C van Swieten
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  ABSTRACT: Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. Here, we describe two Dutch families with familial frontotemporal dementia associated with the novel missense mutation L315R in exon 11 of tau. The age at onset of disease showed a large variation within each family, ranging from 25 to 64 years. Incomplete penetrance was established in an 82-year-old mutation carrier with no signs of dementia and appeared probable in two additional subjects. The brains of two affected subjects were studied and showed extensive tau pathology in neurons (Pick-like inclusions) and astroglial cells, particularly in the frontotemporal cortex and the hippocampal formation. Sarkosyl-insoluble tau extracted from the cerebral cortex showed the presence of straight and twisted tau filaments and a pattern of pathological tau bands similar to that of Pick's disease. Upon dephosphorylation, only five of the six brain tau isoforms were observed, with the shortest isoform being undetectable. All six tau isoforms were present in soluble brain tau. Recombinant tau proteins with the L315R mutation showed a reduced ability to promote microtubule assembly.
  Annals of Neurology 12/2003; 54(5):573-81. · 11.09 Impact Factor
• Article: A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.

  Robert-Jan H Galjaard, Arie P T Smits, Joep H A M Tuerlings, Aagje G Bais, Aida M Bertoli Avella, Guido Breedveld, Esther de Graaff, Ben A Oostra, Peter Heutink
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  ABSTRACT: Postaxial polydactyly (PAP) is the occurrence of one or more extra ulnar or fibular digits or parts of it. In PAP-A, the extra digit is fully developed and articulates with the fifth or an additional metacarpal/metatarsal, while it is rudimentary in PAP-B. Isolated PAP usually segregates as an autosomal dominant trait, with variable expression. Three loci are known for PAP in humans. PAPA1 (including PAP-A/B in one patient) on 7p13 caused by mutations in the GLI3 gene, PAPA2 on 13q21-q32 in a Turkish kindred with PAP-A only, and a third one (PAPA3) in a Chinese family with PAP-A/B on 19p13.1-13.2. We identified a fourth locus in a large Dutch six-generation family with 31 individuals including 11 affecteds. Their phenotype varied from either PAP-A, or PAP-B to PAP-A/B with or without the co-occurence of partial cutaneous syndactyly. We performed a whole-genome search and found linkage between PAP and markers on chromosome 7q. The highest LOD score was 3.34 obtained at D7S1799 and D7S500 with multipoint analysis.
  European Journal of HumanGenetics 06/2003; 11(5):409-15. · 4.40 Impact Factor
• Article: Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred.

  Hongshan Zhao, Yong Tian, Guido Breedveld, Shangzhi Huang, Ying Zou, Jue Y, Jinghua Chai, Hui Li, Mingyue Li, Ben A Oostra, Wilson H Y Lo, Peter Heutink
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  ABSTRACT: Postaxial polydactyly is characterised by fifth digit duplications in hands and/or feet. Two phenotypic varieties have been described. In type A, the extra digit is well formed and articulates with the fifth or an extra metacarpal. A rudimentary extra fifth digit characterises type B. Mutations in the GLI3 gene are associated with postaxial polydactyly in some families and a second locus has been identified on chromosome 13 but the majority of cases remain unexplained. We report here a third locus for postaxial polydactyly on chromosome 19p13.1-13.2 in a large Chinese kindred with a combination of type A and B. Two-point linkage analysis showed the highest LOD score (Z(max) = 5.85 at theta; = 0 cM) at marker D19S221. Recombination events with markers D19S1165 and D19S929 define the critical region for this postaxial polydactyly locus to a region of 4.3 cM on the genetic map.
  European Journal of HumanGenetics 04/2002; 10(3):162-6. · 4.40 Impact Factor
• Article: A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.

  Alessio Di Fonzo, Christan F Rohé, Joaquim Ferreira, Hsin F Chien, Laura Vacca, Fabrizio Stocchi, Leonor Guedes, Edito Fabrizio, Mario Manfredi, Nicola Vanacore, Stefano Goldwurm, Guido Breedveld, Cristina Sampaio, Giuseppe Meco, Egberto Barbosa, Ben A Oostra, Vincenzo Bonifati
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  ABSTRACT: Mutations in the LRRK2 gene have been identified in families with autosomal dominant parkinsonism. We amplified and sequenced the coding region of LRRK2 from genomic DNA by PCR, and identified a heterozygous mutation (Gly2019 ser) present in four of 61 (6.6%) unrelated families with Parkinson's disease and autosomal dominant inheritance. The families originated from Italy, Portugal, and Brazil, indicating the presence of the mutation in different populations. The associated phenotype was broad, including early and late disease onset. These findings confirm the association of LRRK2 with neurodegeneration, and identify a common mutation associated with dominantly inherited Parkinson's disease.
  The Lancet 365(9457):412-5. · 38.28 Impact Factor
• Article: A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34

  Robert-Jan H Galjaard, Arie P T Smits, Joep H A M Tuerlings, Aagje G Bais, Aida M Bertoli-Avella, Guido Breedveld, Esther de Graaff, Ben A Oostra, Peter Heutink