The Experts below are selected from a list of 90207 Experts worldwide ranked by ideXlab platform
Christine Klein - One of the best experts on this subject based on the ideXlab platform.
-
parkin deletions in a family with adult onset tremor dominant parkinsonism expanding the phenotype
Annals of Neurology, 2000Co-Authors: Curtis C Page, Heather Woodward, Claudio C Castellan, Monika Scherer, Joanne Leung, Christine Klein, Martin Kann, Peter Paul Pramstaller, Peter ViereggeAbstract:A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on Chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. Here we present a large pedigree from South Tyrol (a region of northern Italy) with adult-onset, clinically typical tremor-dominant parkinsonism of apparently autosomal dominant inheritance. Haplotype analysis excluded linkage to the Chromosome 2p, 4p, and 4q regions that harbor genes associated with autosomal dominant parkinsonism, but implicated the parkin locus on Chromosome 6q. Compound heterozygous deletions in the parkin gene (one large and one truncating) were identified in 4 affected male siblings. The patients were clinically indistinguishable from most patients with idiopathic Parkinson’s disease. None of them displayed any of the clinical hallmarks described in patients with previously reported parkin mutations, including diurnal fluctuations, benefit from sleep, foot dystonia, hyperreflexia, and early susceptibility to levodopa-induced dyskinesias. Two affected female individuals carried one (truncating) of the two deletions in a heterozygous state with an apparently normal allele. We conclude that the phenotypic spectrum associated with mutations in the parkin gene is broader than previously reported, suggesting that this gene may be important in the etiology of the more frequent late-onset typical Parkinson’s disease. Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ. Parkin deletions in a family with adult-onset tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000;48:65‐71
-
parkin deletions in a family with adult onset tremor dominant parkinsonism expanding the phenotype
Annals of Neurology, 2000Co-Authors: Curtis C Page, Heather Woodward, Claudio C Castellan, Joanne Leung, Christine Klein, Martin Kann, Peter Paul Pramstaller, Bernhard Kis, Monika SchererAbstract:A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on Chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. Here we present a large pedigree from South Tyrol (a region of northern Italy) with adult-onset, clinically typical tremor-dominant parkinsonism of apparently autosomal dominant inheritance. Haplotype analysis excluded linkage to the Chromosome 2p, 4p, and 4q regions that harbor genes associated with autosomal dominant parkinsonism, but implicated the parkin locus on Chromosome 6q. Compound heterozygous deletions in the parkin gene (one large and one truncating) were identified in 4 affected male siblings. The patients were clinically indistinguishable from most patients with idiopathic Parkinson's disease. None of them displayed any of the clinical hallmarks described in patients with previously reported parkin mutations, including diurnal fluctuations, benefit from sleep, foot dystonia, hyperreflexia, and early susceptibility to levodopa-induced dyskinesias. Two affected female individuals carried one (truncating) of the two deletions in a heterozygous state with an apparently normal allele. We conclude that the phenotypic spectrum associated with mutations in the parkin gene is broader than previously reported, suggesting that this gene may be important in the etiology of the more frequent late-onset typical Parkinson's disease.
Monika Scherer - One of the best experts on this subject based on the ideXlab platform.
-
parkin deletions in a family with adult onset tremor dominant parkinsonism expanding the phenotype
Annals of Neurology, 2000Co-Authors: Curtis C Page, Heather Woodward, Claudio C Castellan, Monika Scherer, Joanne Leung, Christine Klein, Martin Kann, Peter Paul Pramstaller, Peter ViereggeAbstract:A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on Chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. Here we present a large pedigree from South Tyrol (a region of northern Italy) with adult-onset, clinically typical tremor-dominant parkinsonism of apparently autosomal dominant inheritance. Haplotype analysis excluded linkage to the Chromosome 2p, 4p, and 4q regions that harbor genes associated with autosomal dominant parkinsonism, but implicated the parkin locus on Chromosome 6q. Compound heterozygous deletions in the parkin gene (one large and one truncating) were identified in 4 affected male siblings. The patients were clinically indistinguishable from most patients with idiopathic Parkinson’s disease. None of them displayed any of the clinical hallmarks described in patients with previously reported parkin mutations, including diurnal fluctuations, benefit from sleep, foot dystonia, hyperreflexia, and early susceptibility to levodopa-induced dyskinesias. Two affected female individuals carried one (truncating) of the two deletions in a heterozygous state with an apparently normal allele. We conclude that the phenotypic spectrum associated with mutations in the parkin gene is broader than previously reported, suggesting that this gene may be important in the etiology of the more frequent late-onset typical Parkinson’s disease. Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ. Parkin deletions in a family with adult-onset tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000;48:65‐71
-
parkin deletions in a family with adult onset tremor dominant parkinsonism expanding the phenotype
Annals of Neurology, 2000Co-Authors: Curtis C Page, Heather Woodward, Claudio C Castellan, Joanne Leung, Christine Klein, Martin Kann, Peter Paul Pramstaller, Bernhard Kis, Monika SchererAbstract:A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on Chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. Here we present a large pedigree from South Tyrol (a region of northern Italy) with adult-onset, clinically typical tremor-dominant parkinsonism of apparently autosomal dominant inheritance. Haplotype analysis excluded linkage to the Chromosome 2p, 4p, and 4q regions that harbor genes associated with autosomal dominant parkinsonism, but implicated the parkin locus on Chromosome 6q. Compound heterozygous deletions in the parkin gene (one large and one truncating) were identified in 4 affected male siblings. The patients were clinically indistinguishable from most patients with idiopathic Parkinson's disease. None of them displayed any of the clinical hallmarks described in patients with previously reported parkin mutations, including diurnal fluctuations, benefit from sleep, foot dystonia, hyperreflexia, and early susceptibility to levodopa-induced dyskinesias. Two affected female individuals carried one (truncating) of the two deletions in a heterozygous state with an apparently normal allele. We conclude that the phenotypic spectrum associated with mutations in the parkin gene is broader than previously reported, suggesting that this gene may be important in the etiology of the more frequent late-onset typical Parkinson's disease.
Peter Vieregge - One of the best experts on this subject based on the ideXlab platform.
-
parkin deletions in a family with adult onset tremor dominant parkinsonism expanding the phenotype
Annals of Neurology, 2000Co-Authors: Curtis C Page, Heather Woodward, Claudio C Castellan, Monika Scherer, Joanne Leung, Christine Klein, Martin Kann, Peter Paul Pramstaller, Peter ViereggeAbstract:A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on Chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. Here we present a large pedigree from South Tyrol (a region of northern Italy) with adult-onset, clinically typical tremor-dominant parkinsonism of apparently autosomal dominant inheritance. Haplotype analysis excluded linkage to the Chromosome 2p, 4p, and 4q regions that harbor genes associated with autosomal dominant parkinsonism, but implicated the parkin locus on Chromosome 6q. Compound heterozygous deletions in the parkin gene (one large and one truncating) were identified in 4 affected male siblings. The patients were clinically indistinguishable from most patients with idiopathic Parkinson’s disease. None of them displayed any of the clinical hallmarks described in patients with previously reported parkin mutations, including diurnal fluctuations, benefit from sleep, foot dystonia, hyperreflexia, and early susceptibility to levodopa-induced dyskinesias. Two affected female individuals carried one (truncating) of the two deletions in a heterozygous state with an apparently normal allele. We conclude that the phenotypic spectrum associated with mutations in the parkin gene is broader than previously reported, suggesting that this gene may be important in the etiology of the more frequent late-onset typical Parkinson’s disease. Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ. Parkin deletions in a family with adult-onset tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000;48:65‐71
Alan C Bird - One of the best experts on this subject based on the ideXlab platform.
-
phenotype of a british north carolina macular dystrophy family linked to Chromosome 6q
British Journal of Ophthalmology, 1998Co-Authors: M B Reichel, Kevin Evans, Rosemary E Kelsell, David M Hunt, Joseph Fan, Cheryl Y Gregory, Anthony T Moore, F W Fitzke, Alan C BirdAbstract:AIMS—To document the phenotype of an autosomal dominant macular dystrophy diagnosed as having North Carolina macular dystrophy (NCMD) in this British family, and to verify that the disease locus corresponds with that of MCDR1 on Chromosome 6q. METHODS—37 family members were examined and the phenotype characterised. DNA samples from the affected members, 19 unaffected and five spouses, were used to perform linkage analysis with six microsatellite marker loci situated within the MCDR1 region of Chromosome 6q. RESULTS—Every affected family member had lesions characteristic of NCMD, which developed early in life and usually remain stable thereafter. Although fundus changes are evident in the periphery, all tests revealed that functional loss is restricted to the macula. Some patients with large macular lesions had good visual acuity with fixation at the edge of the lesion at 5° eccentricity. Significant linkage to the MCDR1 locus on Chromosome 6q was obtained with three marker loci, with a maximum lod score of 5.9 (q = 0.00) obtained with D6S249. CONCLUSION—This family has the typical phenotype NCMD, and the causative gene was linked to the disease locus (MCDR1) on Chromosome 6q. Early onset and localisation of the disease to the central macula allow specialisation of eccentric retina in some eyes with resultant good visual acuity. Keywords: macular dystrophy; linkage analysis; psychophysics
-
localization of a gene cord7 for a dominant cone rod dystrophy to Chromosome 6q
American Journal of Human Genetics, 1998Co-Authors: Rosemary E Kelsell, Anthony T Moore, Alan C Bird, Kevin Gregoryevans, Cheryl Y Gregoryevans, Graham E Holder, M Jay, Bernhard H F Weber, David M HuntAbstract:We thank the family members for their cooperation in this study. This work was supported by the Wellcome Trust (grant 041905), the Frost Charitable Trust, and the Foundation Fighting Blindness.
-
localization of the gene for progressive bifocal chorioretinal atrophy pbcra to Chromosome 6q
Human Molecular Genetics, 1995Co-Authors: Rosemary E Kelsell, Bernard F Godley, Peter A C Tiffin, Kevin Evans, Cheryl Y Gregory, Anthony T Moore, Alan C Bird, Catherine Plant, David M HuntAbstract:Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. We have performed genetic linkage analysis on a five-generation British pedigree. Two-point linkage analysis showed significant linkage with nine microsatellite marker loci mapping to Chromosome 6q. Multipoint analysis gave a maximum lod score of 11.8 (theta = 0.05) between D6S249 and D6S283. This region overlaps with that to which the gene for North Carolina macular dystrophy (MCDR1) has been assigned. However, given the range of differences in phenotype between these two retinal disorders, it is likely that different mutation mechanisms are responsible for each disease.
David M Hunt - One of the best experts on this subject based on the ideXlab platform.
-
phenotype of a british north carolina macular dystrophy family linked to Chromosome 6q
British Journal of Ophthalmology, 1998Co-Authors: M B Reichel, Kevin Evans, Rosemary E Kelsell, David M Hunt, Joseph Fan, Cheryl Y Gregory, Anthony T Moore, F W Fitzke, Alan C BirdAbstract:AIMS—To document the phenotype of an autosomal dominant macular dystrophy diagnosed as having North Carolina macular dystrophy (NCMD) in this British family, and to verify that the disease locus corresponds with that of MCDR1 on Chromosome 6q. METHODS—37 family members were examined and the phenotype characterised. DNA samples from the affected members, 19 unaffected and five spouses, were used to perform linkage analysis with six microsatellite marker loci situated within the MCDR1 region of Chromosome 6q. RESULTS—Every affected family member had lesions characteristic of NCMD, which developed early in life and usually remain stable thereafter. Although fundus changes are evident in the periphery, all tests revealed that functional loss is restricted to the macula. Some patients with large macular lesions had good visual acuity with fixation at the edge of the lesion at 5° eccentricity. Significant linkage to the MCDR1 locus on Chromosome 6q was obtained with three marker loci, with a maximum lod score of 5.9 (q = 0.00) obtained with D6S249. CONCLUSION—This family has the typical phenotype NCMD, and the causative gene was linked to the disease locus (MCDR1) on Chromosome 6q. Early onset and localisation of the disease to the central macula allow specialisation of eccentric retina in some eyes with resultant good visual acuity. Keywords: macular dystrophy; linkage analysis; psychophysics
-
localization of a gene cord7 for a dominant cone rod dystrophy to Chromosome 6q
American Journal of Human Genetics, 1998Co-Authors: Rosemary E Kelsell, Anthony T Moore, Alan C Bird, Kevin Gregoryevans, Cheryl Y Gregoryevans, Graham E Holder, M Jay, Bernhard H F Weber, David M HuntAbstract:We thank the family members for their cooperation in this study. This work was supported by the Wellcome Trust (grant 041905), the Frost Charitable Trust, and the Foundation Fighting Blindness.
-
clinical features of progressive bifocal chonoretinal atrophy a retinal dystrophy linked to Chromosome 6q
Ophthalmology, 1996Co-Authors: Bernard F Godley, Peter A C Tiffin, Kevin Evans, Rosemary E Kelsell, David M Hunt, A C BirdAbstract:Abstract Purpose: The gene for progressive bifocal chorioretinal atrophy (PBCRA) has been linked to Chromosome 6% near the genomic assignment for North Carolina macular dystrophy. A study was undertaken to define the clinical features of a large PBCRA pedigree and to determine whether PBCRA and North Carolina macular dystrophy are phenotypically distinct entities. Methods: Fifteen affected individuals from 1 large family were examined clinically, which included angiography and electrophysiologic studies. Results: The PBCRA is an autosomal dominant chorioretinal dystrophy of early onset characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow progression. A large atrophic macular lesion and nasal subretinal deposits are evident soon after birth. An atrophic area nasal to the optic nerve head appears in the second decade, which enlarges progressively. Electro-oculographic and electroretinographic studies indicated marked, diffuse abnormalities of rod and cone function. Fluorescein and indocyanine green angiography showed a large circumscribed area of macular choroidal atrophy with staining of deposits in the peripheral retina. In addition to previously documented features, nasal retinal abnormalities from a few weeks of age, marked photopsia in a number of patients, and retinal detachments in three eyes are reported as new features of the disease. Conclusions: An extended description of PBCRA is presented highlighting that the phenotype is distinct from North Carolina macular dystrophy, although some phenotypic similarities exist between the two conditions. These disorders may be the result of different mutations on the same gene or nearby genes.
-
localization of the gene for progressive bifocal chorioretinal atrophy pbcra to Chromosome 6q
Human Molecular Genetics, 1995Co-Authors: Rosemary E Kelsell, Bernard F Godley, Peter A C Tiffin, Kevin Evans, Cheryl Y Gregory, Anthony T Moore, Alan C Bird, Catherine Plant, David M HuntAbstract:Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. We have performed genetic linkage analysis on a five-generation British pedigree. Two-point linkage analysis showed significant linkage with nine microsatellite marker loci mapping to Chromosome 6q. Multipoint analysis gave a maximum lod score of 11.8 (theta = 0.05) between D6S249 and D6S283. This region overlaps with that to which the gene for North Carolina macular dystrophy (MCDR1) has been assigned. However, given the range of differences in phenotype between these two retinal disorders, it is likely that different mutation mechanisms are responsible for each disease.