Matti Haltia

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. doi request reprint The neuronal ceroid-lipofuscinoses: A historical introduction
    Matti Haltia
    Department of Pathology, University of Helsinki, 00014 Helsinki, Finland Electronic address
    Biochim Biophys Acta 1832:1795-800. 2013
  2. ncbi request reprint The neuronal ceroid-lipofuscinoses: from past to present
    Matti Haltia
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Biochim Biophys Acta 1762:850-6. 2006
  3. ncbi request reprint Hippocampal lesions in the neuronal ceroid lipofuscinoses
    M Haltia
    Department of Pathology, University of Helsinki, Helsinki University Central Hospital, Finland
    Eur J Paediatr Neurol 5:209-11. 2001
  4. ncbi request reprint Human prion diseases
    M Haltia
    Department of Pathology, University of Helsinki and the Helsinki University Central Hospital, Finland
    Ann Med 32:493-500. 2000
  5. ncbi request reprint The neuronal ceroid-lipofuscinoses
    Matti Haltia
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    J Neuropathol Exp Neurol 62:1-13. 2003
  6. ncbi request reprint [Northern epilepsy and the gene error behind it]
    Susanna Ranta
    Folkhälsanin perinnöllisyystieteen laitos, Haartman instituutti, lääketieteellisen genetiikan osasto Biomedicum Helsinki PL 63, 00014 Helsingin yliopisto sekä Jorvin sairaala 02740 Espoo
    Duodecim 118:1551-8. 2002
  7. ncbi request reprint Pirkko Santavuori (1933-2004)
    Jaana Tyynelä
    Institute of Biomedicine Biochemistry, University of Helsinki, Finland
    J Child Neurol 19:465-70. 2004
  8. ncbi request reprint Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation
    Jaana Tyynelä
    Institute of Biomedicine Biochemistry and Neuroscience Research Program, University of Helsinki, Finland
    Brain Pathol 14:349-57. 2004
  9. ncbi request reprint Cardiovascular risk factors and Alzheimer's disease: a genetic association study in a population aged 85 or over
    L Myllykangas
    Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurosci Lett 292:195-8. 2000
  10. pmc Apolipoprotein E includes a binding site which is recognized by several amyloidogenic polypeptides
    M H Baumann
    Institute of Biomedicine, Protein Chemistry Education and Research Unit, P O Box 8, FIN 00014 University of Helsinki, Finland
    Biochem J 349:77-84. 2000

Collaborators

Detail Information

Publications39

  1. doi request reprint The neuronal ceroid-lipofuscinoses: A historical introduction
    Matti Haltia
    Department of Pathology, University of Helsinki, 00014 Helsinki, Finland Electronic address
    Biochim Biophys Acta 1832:1795-800. 2013
    ..This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease. ..
  2. ncbi request reprint The neuronal ceroid-lipofuscinoses: from past to present
    Matti Haltia
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Biochim Biophys Acta 1762:850-6. 2006
    ..This review discusses the historical evolution of the NCL concept and the impact of the recent biochemical and molecular genetic findings on our views on the classification and pathogenesis of these devastating brain disorders...
  3. ncbi request reprint Hippocampal lesions in the neuronal ceroid lipofuscinoses
    M Haltia
    Department of Pathology, University of Helsinki, Helsinki University Central Hospital, Finland
    Eur J Paediatr Neurol 5:209-11. 2001
    ..It is rather a consequence of the primary metabolic defects and may be directly involved in the causation of the epileptic discharges...
  4. ncbi request reprint Human prion diseases
    M Haltia
    Department of Pathology, University of Helsinki and the Helsinki University Central Hospital, Finland
    Ann Med 32:493-500. 2000
    ..This short review discusses the basic biological properties of prions, followed by a presentation of the clinical and pathological features of the most important human prion diseases...
  5. ncbi request reprint The neuronal ceroid-lipofuscinoses
    Matti Haltia
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    J Neuropathol Exp Neurol 62:1-13. 2003
    ..The purpose of this paper is to provide an overview of the NCLs, review recent molecular genetic and biochemical findings, and discuss their impact on our views on the classification and pathogenesis of these devastating brain disorders...
  6. ncbi request reprint [Northern epilepsy and the gene error behind it]
    Susanna Ranta
    Folkhälsanin perinnöllisyystieteen laitos, Haartman instituutti, lääketieteellisen genetiikan osasto Biomedicum Helsinki PL 63, 00014 Helsingin yliopisto sekä Jorvin sairaala 02740 Espoo
    Duodecim 118:1551-8. 2002
  7. ncbi request reprint Pirkko Santavuori (1933-2004)
    Jaana Tyynelä
    Institute of Biomedicine Biochemistry, University of Helsinki, Finland
    J Child Neurol 19:465-70. 2004
  8. ncbi request reprint Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation
    Jaana Tyynelä
    Institute of Biomedicine Biochemistry and Neuroscience Research Program, University of Helsinki, Finland
    Brain Pathol 14:349-57. 2004
    ..In conclusion, the NCLs share a common pattern of selective hippocampal pathology, distinct from that seen in the majority of temporal lobe epilepsies...
  9. ncbi request reprint Cardiovascular risk factors and Alzheimer's disease: a genetic association study in a population aged 85 or over
    L Myllykangas
    Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurosci Lett 292:195-8. 2000
    ..095) towards protection against neuropathologically defined AD. Our study is based on very elderly Finns. Therefore, further studies are warranted in other populations...
  10. pmc Apolipoprotein E includes a binding site which is recognized by several amyloidogenic polypeptides
    M H Baumann
    Institute of Biomedicine, Protein Chemistry Education and Research Unit, P O Box 8, FIN 00014 University of Helsinki, Finland
    Biochem J 349:77-84. 2000
    ....
  11. ncbi request reprint Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme
    J Tyynela
    Institute of Biomedicine, POB8, 00014 University of Helsinki, Finland
    Eur J Paediatr Neurol 5:43-5. 2001
    ..By Western blotting, a 5-10 fold increase in the level of cathepsin D was confirmed. These results indicate that the missense mutation in congenital NCL sheep results in the synthesis of an inactive yet stable cathepsin D...
  12. ncbi request reprint Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease
    M Auranen
    Department of Anatomy, University of Helsinki, Finland
    Neuromuscul Disord 10:16-23. 2000
    ..In contrast, laminin beta 2 chain was overexpressed in the Western blotting studies. These findings may reflect a yet unidentified primary disturbance in the basement membrane composition and function...
  13. ncbi request reprint Different expression of adhesion molecules on stromal cells and endothelial cells of capillary hemangioblastoma
    T Bohling
    Department of Pathology, Haartman Institute, University of Helsinki, Finland
    Acta Neuropathol 92:461-6. 1996
    ..In addition, the NCAM expression could contribute to the sometimes problematic differential diagnosis between capillary hemangioblastoma and metastatic renal cell carcinoma of the central nervous system...
  14. ncbi request reprint Palmitoyl-protein thioesterase, an enzyme implicated in neurodegeneration, is localized in neurons and is developmentally regulated in rat brain
    J Suopanki
    Department of Medical Chemistry, Institute of Biomedicine, University of Helsinki, Finland
    Neurosci Lett 265:53-6. 1999
    ..The presented data support the view of PPT being essential for both development and maintenance of cortical neurons...
  15. ncbi request reprint The expression of palmitoyl-protein thioesterase is developmentally regulated in neural tissues but not in nonneural tissues
    J Suopanki
    Institute of Biomedicine, Department of Medical Chemistry, University of Helsinki, Finland
    Mol Genet Metab 66:290-3. 1999
    ..The changes in the expression coincide with developmental events in the brain. These data indicate that PPT has an important role in the development of the CNS...
  16. ncbi request reprint Proliferation potential and histological features in neurofibromatosis 2-associated and sporadic meningiomas
    J Antinheimo
    Department of Pathology, University of Helsinki, Finland
    J Neurosurg 87:610-4. 1997
    ..The higher proliferation potential of the NF2 meningiomas may reflect differences in molecular biology between sporadic and NF2 meningiomas and may be related to an earlier onset, multiplicity, and more aggressive behavior of NF2 tumors...
  17. pmc A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration
    J Tyynela
    Institute of Biomedicine and Departments of Pathology, University of Helsinki and Helsinki University Central Hospital, FIN 00014 Helsinki, Finland
    EMBO J 19:2786-92. 2000
    ..This results in severe cerebrocortical atrophy and early death, providing strong evidence for an important role of cathepsin D in neuronal development and/or homeostasis...
  18. ncbi request reprint Prevalence of Alzheimer's disease in very elderly people: a prospective neuropathological study
    T Polvikoski
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Finland
    Neurology 56:1690-6. 2001
    ..The APOE genotype has a strong effect on the prevalence of neuropathologically defined AD, even after 90 years of age...
  19. ncbi request reprint Association of lipoprotein lipase Ser447Ter polymorphism with brain infarction: a population-based neuropathological study
    L Myllykangas
    Department of Pathology, University of Helsinki and the Helsinki University Central Hospital, Finland
    Ann Med 33:486-92. 2001
    ..Here we tested for an association between brain infarction and two common polymorphisms of the LPL gene, Ser447Ter and Asn291 Ser...
  20. ncbi request reprint Status epilepticus induces changes in the expression and localization of endogenous palmitoyl-protein thioesterase 1
    J Suopanki
    Institute of Biomedicine Protein Chemistry Unit, Biomedicum Helsinki, University of Helsinki, Finland
    Neurobiol Dis 10:247-57. 2002
    ..These data suggest that PPT1 may protect neurons from excitotoxicity and have a role in synaptic plasticity...
  21. ncbi request reprint CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts
    J Paloneva
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Neurology 56:1552-8. 2001
    ..Consequently, patients with frontal-type dementia of unknown origin should be investigated by x-ray of ankles and wrists. The current results suggest early basal ganglia involvement in PLOSL...
  22. ncbi request reprint Studies of homogenous populations: CLN5 and CLN8
    S Ranta
    Department of Molecular Genetics, , Helsinki, Finland
    Adv Genet 45:123-40. 2001
    ..Furthermore, a well studied spontaneously occurring autosomal recessive mouse mutant, motor neuron degeneration (mnd) mouse, is a homolog for CLN8...
  23. ncbi request reprint Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development
    A Uusitalo
    National Public Health Institute and Department of Medical Genetics, University of Helsinki, Mannerheimintie 166, Helsinki, FIN 00300, Finland
    Mol Genet Metab 67:294-307. 1999
    ..This is consistent with previous magnetic resonance imaging findings in the brains of aspartylglucosaminuria patients, revealing delayed myelination in childhood...
  24. ncbi request reprint Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis
    J Tyynela
    Department of Medical Chemistry, University of Helsinki, Finland
    FEBS Lett 330:8-12. 1993
    ..This is the first time that saposins have been found to be stored in any form of neuronal ceroid-lipofuscinosis...
  25. ncbi request reprint Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study
    J Tyynela
    Department of Medical Chemistry, University of Helsinki, Finland
    Acta Neuropathol 89:391-8. 1995
    ..From these data we conclude that the presence of SAP within the storage bodies is a phenomenon common to all major forms of human NCL...
  26. ncbi request reprint Variant Alzheimer's disease with spastic paraparesis: clinical characterization
    A Verkkoniemi
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Finland
    Neurology 54:1103-9. 2000
    ..To present the clinical, neuroimaging, and electrophysiologic characteristics of a variant AD phenotype...
  27. ncbi request reprint Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype
    A Verkkoniemi
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Finland
    J Neuropathol Exp Neurol 60:483-92. 2001
    ....
  28. ncbi request reprint The normal population distribution of PRNP codon 129 polymorphism
    M H Nurmi
    Department of Pathology, University of Helsinki, Helsinki, Finland
    Acta Neurol Scand 108:374-8. 2003
    ..However, no truly representative normal population-based data, or data stratified according to age or gender are available on the distribution of this polymorphism...
  29. ncbi request reprint Neuromuscular pathology in hereditary gelsolin amyloidosis
    Sari Kiuru-Enari
    Department of Neurology, Helsinki University Central Hospital, Finland
    J Neuropathol Exp Neurol 61:565-71. 2002
    ..Deficient actin modulation by variant gelsolin in neurons and Schwann cells, however, may alter axonal transport and myelination and contribute to AGel polyneuropathy...
  30. ncbi request reprint Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study
    Liisa Myllykangas
    Department of Pathology, Helsinki University Central Hospital, Helsinki, Finland
    J Neurol Sci 236:17-24. 2005
    ..08). BACE2 haplotype association with AD in two independent datasets provides further evidence for an AD susceptibility locus on chromosome 21q within or close to BACE2...
  31. ncbi request reprint Neuropsychological functions in variant Alzheimer's disease with spastic paraparesis
    Auli Verkkoniemi
    Department of Clinical Neurosciences, Helsinki University Central Hospital, Helsinki FIN 00290, Finland
    J Neurol Sci 218:29-37. 2004
    ..However, all these early-onset patients (age range 43-63 years) with a deletion mutation of PS-1 gene showed prominent memory impairment and deficits in visuoconstructive and intellectual functions...
  32. ncbi request reprint An autosomal locus predisposing to deletions of mitochondrial DNA
    A Suomalainen
    National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland
    Nat Genet 9:146-51. 1995
    ..The assignment of this disease locus to 10q 23.3-24.3 is the first direct evidence for involvement of both nuclear and mitochondrial genomes in a single disorder...
  33. ncbi request reprint Congenital fiber type disproportion in an adult: a morphometric and microchemical study
    M Haltia
    Department of Pathology, University of Helsinki, Finland
    Acta Neurol Scand 78:65-71. 1988
    ..These advanced morphometric, histochemical and biochemical changes may be interpreted as compensatory phenomena, which may explain the patient's pronounced functional improvement with advancing age...
  34. ncbi request reprint Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses
    M Haltia
    Department of Pathology, University of Helsinki, Finland
    Gerontology 41:239-48. 1995
    ..Using an immunological approach we have shown that sphingolipid activator proteins also constitute an integral component of the storage bodies in the other major forms of the disease...
  35. ncbi request reprint Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL)
    J Tyynela
    Institute of Biomedicine, University of Helsinki, Finland
    Neuropediatrics 28:49-52. 1997
    ..The SAPs, their functions and occurrence in different forms of NCL, as well as the relationship between SAPs and palmitoyl protein thioesterase, an enzyme implicated in INCL, are discussed...
  36. ncbi request reprint Global democratic consensus on neuropathological disease criteria
    Cristian Achim
    Lancet Neurol 1:340. 2002
  37. pmc DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features
    Juha Paloneva
    Biomedicum National Public Health Institute, Department of Molecular Medicine, Haartmaninkatu 8, 00290 Helsinki, Finland
    J Exp Med 198:669-75. 2003
    ..These results indicate an important role for DAP12-TREM2 signaling complex in the differentiation and function of osteoclasts...
  38. ncbi request reprint [Finnish hereditary neurological diseases as focus of the research]
    Matti Haltia
    Haartman instituutti PL 21, 00014 Helsingin yliopisto
    Duodecim 118:2279-88. 2002
  39. ncbi request reprint Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
    Eija Siintola
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki Helsinki, Finland
    Brain 129:1438-45. 2006
    ..The present observations also suggest that cathepsin D deficiency should be considered as a possible diagnosis in microcephalic neonates, who present with seizures at or before birth...