Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

PLO-SL (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy) is a recessively inherited disorder characterized by systemic bone cysts and progressive presenile frontal-lobe dementia, resulting in death at <50 years of age. Since the 1960s, approximately 160 cases have been reported, mainly in Japan and Finland. The pathogenesis of the disease is unknown. In this article, we report the assignment of the locus for PLO-SL, by random genome screening using a modification of the haplotype-sharing method, in patients from a genetically isolated population. By screening five patient samples from 2 Finnish families, followed by linkage analysis of 12 Finnish families, 3 Swedish families, and 1 Norwegian family, we were able to assign the PLO-SL locus to a 9-cM interval between markers D19S191 and D19S420 on chromosome 19q13. The critical region was further restricted, to approximately 1.8 Mb, by linkage-disequilibrium analysis of the Finnish families. According to the haplotype analysis, one Swedish and one Norwegian PLO-SL family are not linked to the chromosome 19 locus, suggesting that PLO-SL is a heterogeneous disease. In this chromosomal region, one potential candidate gene for PLO-SL, the gene encoding amyloid precursor-like protein 1, was analyzed, but no mutations were detected in the coding region.

[1]  L Peltonen,et al.  Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. , 1998, Molecular cell.

[2]  J. Lamerdin,et al.  Structure of the human amyloid-precursor-like protein gene APLP1 at 19q13.1 , 1998, Human Genetics.

[3]  D E Weeks,et al.  True and false positive peaks in genomewide scans: applications of length-biased sampling to linkage mapping. , 1997, American journal of human genetics.

[4]  B. Miller.  Clinical advances in degenerative dementias , 1997, British Journal of Psychiatry.

[5]  M. Pericak-Vance,et al.  Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. , 1996, American journal of human genetics.

[6]  G. Holmgren,et al.  Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO‐SL): a genealogical study of Swedish families of probable Finnish background , 1996, Clinical genetics.

[7]  P. Deloukas,et al.  A Gene Map of the Human Genome , 1996, Science.

[8]  J. Weissenbach,et al.  Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia , 1996, Nature.

[9]  J. Terwilliger.  Reply to Sham et al. , 1996 .

[10]  Cécile Fizames,et al.  A comprehensive genetic map of the human genome based on 5,264 microsatellites , 1996, Nature.

[11]  C. Scarpini,et al.  Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy , 1996, Brain and Development.

[12]  G. Pals,et al.  Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. , 1996, Human molecular genetics.

[13]  Tom Slezak,et al.  An integrated metric physical map of human chromosome 19 , 1995, Nature Genetics.

[14]  L. Peltonen,et al.  Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. , 1995, American journal of human genetics.

[15]  L. Peltonen,et al.  Messages from an isolate: lessons from the Finnish gene pool. , 1995, Biological chemistry Hoppe-Seyler.

[16]  L. Sandkuijl,et al.  Perspectives of identity by descent (IBD) mapping in founder populations , 1995, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

[17]  K H Buetow,et al.  A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. , 1995, Human molecular genetics.

[18]  J. Hardy,et al.  Familial non-specific dementia maps to chromosome 3. , 1995, Human molecular genetics.

[19]  K. Suzuki,et al.  Calpain: novel family members, activation, and physiologic function. , 1995, Biological chemistry Hoppe-Seyler.

[20]  I. Black,et al.  Selective localization of amyloid precursor-like protein 1 in the cerebral cortex postsynaptic density. , 1995, Brain research. Molecular brain research.

[21]  L. Peltonen,et al.  Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. , 1995, American journal of human genetics.

[22]  J. Terwilliger.  A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. , 1995, American journal of human genetics.

[23]  S. Devries,et al.  Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples. , 1994, The American journal of pathology.

[24]  K. Wilhelmsen,et al.  Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. , 1994, American journal of human genetics.

[25]  H. Kalimo,et al.  Vascular changes and blood‐brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy) , 1994, Acta neurologica Scandinavica.

[26]  Nelson B. Freimer,et al.  Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis , 1994, Nature Genetics.

[27]  M. Puranen,et al.  Neuropsychiatric and brain CT findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy , 1993, Acta neurologica Scandinavica.

[28]  A. Chapelle,et al.  Disease gene mapping in isolated human populations: the example of Finland. , 1993, Journal of medical genetics.

[29]  J. Tidball,et al.  Identification of calcium-activated neutral protease activity and regulation by parathyroid hormone in mouse osteoblastic cells. , 1993, Biochemistry and molecular biology international.

[30]  S. Kiechl,et al.  [Membranous lipodystrophy (Nasu-Hakola disease)]. , 1993, Der Nervenarzt.

[31]  D. D. Vivo,et al.  The expanding clinical spectrum of mitochondrial diseases , 1993, Brain and Development.

[32]  R. Tanzi,et al.  The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19. , 1993, Genomics.

[33]  D. Glavač,et al.  Optimization of the single‐strand conformation polymorphism (SSCP) technique for detection of point mutations , 1993, Human mutation.

[34]  D. D. De Vivo,et al.  The expanding clinical spectrum of mitochondrial diseases , 1993, Brain and Development.

[35]  R. Kauppinen.  Single-strand conformation polymorphism (SSCP) analysis applied to the diagnosis of acute intermittent porphyria. , 1992, Molecular and cellular probes.

[36]  R. Tanzi,et al.  Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[37]  B. Lotz,et al.  Membranous lipodystrophy. Clinical and electrophysiological observations in the first South African case. , 1992, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

[38]  F. Muncibì,et al.  A case of membranous lipodystrophy with skeletal involvement. , 1992, La Chirurgia degli Organi di Movimento.

[39]  J. Terwilliger,et al.  A haplotype-based 'haplotype relative risk' approach to detecting allelic associations. , 1992, Human heredity.

[40]  S Smirne,et al.  Peripheral motor-sensory neuropathy in membranous lipodystrophy (Nasu's disease): a case report. , 1992, Clinical neuropathology.

[41]  L. Peltonen,et al.  Spectrum of mutations in aspartylglucosaminuria. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[42]  L. Beckman,et al.  Population studies in northern Sweden. XVII. Estimates of Finnish and Saamish influence. , 1991, Human heredity.

[43]  M. Futai,et al.  Human gastric (H+ + K+)-ATPase gene. Similarity to (Na+ + K+)-ATPase genes in exon/intron organization but difference in control region. , 1990, The Journal of biological chemistry.

[44]  T. Sekiya,et al.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. , 1989, Genomics.

[45]  M. I. Lomax,et al.  Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase. , 1989, Nucleic acids research.

[46]  I. Kitajima,et al.  Nasu-Hakola disease (membranous lipodystrophy) Clinical, histopathological and biochemical studies of three cases , 1989, Journal of the Neurological Sciences.

[47]  N. Ponne,et al.  Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase. , 1989, Nucleic acids research.

[48]  C. Sikström,et al.  Population Studies in Northern Sweden , 1988 .

[49]  C. Falk,et al.  Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations , 1987, Annals of human genetics.

[50]  K. Suzuki,et al.  Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease , 1986, Nucleic Acids Res..

[51]  J. Ott.  Linkage probability and its approximate confidence interval under possible heterogeneity , 1986, Genetic epidemiology. Supplement.

[52]  G. Lathrop,et al.  Construction of human linkage maps: Likelihood calculations for multilocus linkage analysis , 1986, Genetic epidemiology.

[53]  J. Ott.  Analysis of Human Genetic Linkage , 1985 .

[54]  T. Erkinjuntti,et al.  Cerebral MR and CT Imaging in Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy , 1984, Journal of computer assisted tomography.

[55]  J. Ott,et al.  Strategies for multilocus linkage analysis in humans. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[56]  G. Lathrop,et al.  Easy calculations of lod scores and genetic risks on small computers. , 1984, American journal of human genetics.

[57]  T. Bird,et al.  Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease) , 1983, Neurology.

[58]  R. Adolfsson,et al.  HEREDITARY POLYCYSTIC OSTEODYSPLASIA WITH PROGRESSIVE DEMENTIA IN SWEDEN , 1978, The Lancet.

[59]  N. Blin,et al.  A general method for isolation of high molecular weight DNA from eukaryotes. , 1976, Nucleic acids research.

[60]  K. Terayama,et al.  A LIPID METABOLIC DISEASE —“MEMBRANOUS LIPODYSTROPHY”— AN AUTOPSY CASE DEMONSTRATING NUMEROUS PECULIAR MEMBRANE‐STRUCTURES COMPOSED OF COMPOUND LIPID IN BONE AND BONE MARROW AND VARIOUS ADIPOSE TISSUES , 1973, Acta pathologica japonica.

[61]  J. Perheentupa,et al.  Hereditary diseases in Finland; rare flora in rare soul. , 1973, Annals of clinical research.

[62]  Hakola Hp.  Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. , 1972 .

[63]  H. Hakola.  Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. , 1972, Acta psychiatrica Scandinavica. Supplementum.

[64]  P. Ms,et al.  TRANYLCYPROMINE IN MULTIPLE SCLEROSIS. , 1965 .