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The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments

The past year has seen a number of significant advances in our understanding of the neuropathological and molecular genetic basis of frontotemporal lobar degeneration (FTLD). Whereas, in the past, most attention focused on FTLD associated with tau-based pathology and microtubule associated protein t... Full description

Journal Title: Neurogenetics 2007, Vol.8 (4), p.237-248
Main Author: MACKENZIE, Ian R. A
Other Authors: RADEMAKERS, Rosa
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: Berlin: Springer
ID: ISSN: 1364-6745
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recordid: cdi_proquest_miscellaneous_68427113
title: The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments
format: Article
creator:
  • MACKENZIE, Ian R. A
  • RADEMAKERS, Rosa
subjects:
  • Adenosine Triphosphatases - genetics
  • Biological and medical sciences
  • Brain damage
  • Cell Cycle Proteins - genetics
  • Chromosomes, Human, Pair 17 - genetics
  • Chromosomes, Human, Pair 3 - genetics
  • Chromosomes, Human, Pair 9 - genetics
  • Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
  • Dementia
  • Dementia - genetics
  • Dementia - pathology
  • DNA-Binding Proteins - genetics
  • Fundamental and applied biological sciences. Psychology
  • Genetic Linkage
  • Genetics
  • Genetics of eukaryotes. Biological and molecular evolution
  • Humans
  • Inclusion Bodies - pathology
  • Intercellular Signaling Peptides and Proteins - deficiency
  • Intercellular Signaling Peptides and Proteins - genetics
  • Medical sciences
  • Molecular and cellular biology
  • Molecular Biology
  • Mutation
  • Neurology
  • Neurons - pathology
  • Phenotype
  • Protein Precursors - genetics
  • Ubiquitination - genetics
  • Valosin Containing Protein
  • Vertebrates: nervous system and sense organs
ispartof: Neurogenetics, 2007, Vol.8 (4), p.237-248
description: The past year has seen a number of significant advances in our understanding of the neuropathological and molecular genetic basis of frontotemporal lobar degeneration (FTLD). Whereas, in the past, most attention focused on FTLD associated with tau-based pathology and microtubule associated protein tau gene (MAPT) mutations, there has recently been greater attention paid to non-tau FTLD. FTLD with tau-negative, ubiquitinated inclusions (FTLD-U) is now recognized as the most common pathology associated with clinical FTLD. Mutations in the progranulin gene (PGRN) have been identified as the cause of FTLD-U linked to chromosome 17. A rapidly growing number of PGRN mutations have been identified, and to date, all appear to cause FTLD by reducing the amount of functional PGRN protein (haploinsufficiency). The neuropathology associated with each of the known non-MAPT FTLD genes and loci (PGRN, valosin-containing protein gene, CHMP2B and 9p), has been shown to be a specific subtype of FTLD-U. The ubiquitinated pathological protein in FTLD-U has been identified as TAR deoxyribonucleic acid-binding protein with M (r) 43 kDa (TDP-43). Immunohistochemical and biochemical studies of TDP-43 have helped to clarify the relationship between different sub-types of FTLD-U and related conditions. It is anticipated that these discoveries will facilitate the development of new diagnostic tests and therapeutics.
language: eng
source:
identifier: ISSN: 1364-6745
fulltext: no_fulltext
issn:
  • 1364-6745
  • 1364-6753
url: Link


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descriptionThe past year has seen a number of significant advances in our understanding of the neuropathological and molecular genetic basis of frontotemporal lobar degeneration (FTLD). Whereas, in the past, most attention focused on FTLD associated with tau-based pathology and microtubule associated protein tau gene (MAPT) mutations, there has recently been greater attention paid to non-tau FTLD. FTLD with tau-negative, ubiquitinated inclusions (FTLD-U) is now recognized as the most common pathology associated with clinical FTLD. Mutations in the progranulin gene (PGRN) have been identified as the cause of FTLD-U linked to chromosome 17. A rapidly growing number of PGRN mutations have been identified, and to date, all appear to cause FTLD by reducing the amount of functional PGRN protein (haploinsufficiency). The neuropathology associated with each of the known non-MAPT FTLD genes and loci (PGRN, valosin-containing protein gene, CHMP2B and 9p), has been shown to be a specific subtype of FTLD-U. The ubiquitinated pathological protein in FTLD-U has been identified as TAR deoxyribonucleic acid-binding protein with M (r) 43 kDa (TDP-43). Immunohistochemical and biochemical studies of TDP-43 have helped to clarify the relationship between different sub-types of FTLD-U and related conditions. It is anticipated that these discoveries will facilitate the development of new diagnostic tests and therapeutics.
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languageeng
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subjectAdenosine Triphosphatases - genetics ; Biological and medical sciences ; Brain damage ; Cell Cycle Proteins - genetics ; Chromosomes, Human, Pair 17 - genetics ; Chromosomes, Human, Pair 3 - genetics ; Chromosomes, Human, Pair 9 - genetics ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Dementia ; Dementia - genetics ; Dementia - pathology ; DNA-Binding Proteins - genetics ; Fundamental and applied biological sciences. Psychology ; Genetic Linkage ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Humans ; Inclusion Bodies - pathology ; Intercellular Signaling Peptides and Proteins - deficiency ; Intercellular Signaling Peptides and Proteins - genetics ; Medical sciences ; Molecular and cellular biology ; Molecular Biology ; Mutation ; Neurology ; Neurons - pathology ; Phenotype ; Protein Precursors - genetics ; Ubiquitination - genetics ; Valosin Containing Protein ; Vertebrates: nervous system and sense organs
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descriptionThe past year has seen a number of significant advances in our understanding of the neuropathological and molecular genetic basis of frontotemporal lobar degeneration (FTLD). Whereas, in the past, most attention focused on FTLD associated with tau-based pathology and microtubule associated protein tau gene (MAPT) mutations, there has recently been greater attention paid to non-tau FTLD. FTLD with tau-negative, ubiquitinated inclusions (FTLD-U) is now recognized as the most common pathology associated with clinical FTLD. Mutations in the progranulin gene (PGRN) have been identified as the cause of FTLD-U linked to chromosome 17. A rapidly growing number of PGRN mutations have been identified, and to date, all appear to cause FTLD by reducing the amount of functional PGRN protein (haploinsufficiency). The neuropathology associated with each of the known non-MAPT FTLD genes and loci (PGRN, valosin-containing protein gene, CHMP2B and 9p), has been shown to be a specific subtype of FTLD-U. The ubiquitinated pathological protein in FTLD-U has been identified as TAR deoxyribonucleic acid-binding protein with M (r) 43 kDa (TDP-43). Immunohistochemical and biochemical studies of TDP-43 have helped to clarify the relationship between different sub-types of FTLD-U and related conditions. It is anticipated that these discoveries will facilitate the development of new diagnostic tests and therapeutics.
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1Biological and medical sciences
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3Cell Cycle Proteins - genetics
4Chromosomes, Human, Pair 17 - genetics
5Chromosomes, Human, Pair 3 - genetics
6Chromosomes, Human, Pair 9 - genetics
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10Dementia - pathology
11DNA-Binding Proteins - genetics
12Fundamental and applied biological sciences. Psychology
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17Inclusion Bodies - pathology
18Intercellular Signaling Peptides and Proteins - deficiency
19Intercellular Signaling Peptides and Proteins - genetics
20Medical sciences
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22Molecular Biology
23Mutation
24Neurology
25Neurons - pathology
26Phenotype
27Protein Precursors - genetics
28Ubiquitination - genetics
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30Vertebrates: nervous system and sense organs
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29Valosin Containing Protein
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abstractThe past year has seen a number of significant advances in our understanding of the neuropathological and molecular genetic basis of frontotemporal lobar degeneration (FTLD). Whereas, in the past, most attention focused on FTLD associated with tau-based pathology and microtubule associated protein tau gene (MAPT) mutations, there has recently been greater attention paid to non-tau FTLD. FTLD with tau-negative, ubiquitinated inclusions (FTLD-U) is now recognized as the most common pathology associated with clinical FTLD. Mutations in the progranulin gene (PGRN) have been identified as the cause of FTLD-U linked to chromosome 17. A rapidly growing number of PGRN mutations have been identified, and to date, all appear to cause FTLD by reducing the amount of functional PGRN protein (haploinsufficiency). The neuropathology associated with each of the known non-MAPT FTLD genes and loci (PGRN, valosin-containing protein gene, CHMP2B and 9p), has been shown to be a specific subtype of FTLD-U. The ubiquitinated pathological protein in FTLD-U has been identified as TAR deoxyribonucleic acid-binding protein with M (r) 43 kDa (TDP-43). Immunohistochemical and biochemical studies of TDP-43 have helped to clarify the relationship between different sub-types of FTLD-U and related conditions. It is anticipated that these discoveries will facilitate the development of new diagnostic tests and therapeutics.
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pmid17805587
doi10.1007/s10048-007-0102-4