DOI: 10.1159/000101847. Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions: A Molecular Genetic Update

Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions: A Molecular Genetic Update

10.1159/000101847

Crossref journal-article

S. Karger AG

Neurodegenerative Diseases (127)

Abstract

Frontotemporal lobar degeneration (FTLD) is a clinically, pathologically and genetically highly complex disorder. In the last few years enormous progress has been made in dissecting the genetic etiology of FTLD. Mutations have been identified in the progranulin gene (PGRN), the charged multivesicular body protein 2B gene (CHMP2B) and the valosin-containing protein gene (VCP). Mutations in these genes all lead to FTLD pathology characterized by ubiquitin-immunoreactive neuronal cytoplasmic and intranuclear lentiform inclusions (FTLD-U). The similar pathology suggests that these genes may be connected trough a common disease pathway leading to neurodegeneration and the formation of these pathognomic inclusions. This review focuses on the molecular genetic processes underlying FTLD-U pathology.

Bibliography

van der Zee, J., Gijselinck, I., Pirici, D., Kumar-Singh, S., Cruts, M., & Van Broeckhoven, C. (2007). Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions: A Molecular Genetic Update. Neurodegenerative Diseases, 4(2â3), 227â235. Portico.

Authors 6

Julie van der Zee (first)
Ilse Gijselinck (additional)
Daniel Pirici (additional)
Samir Kumar-Singh (additional)
Marc Cruts (additional)
Christine Van Broeckhoven (additional)

References 44 Referenced 20

Dates

Type	When
Created	18 years, 2 months ago (June 27, 2007, 2:31 a.m.)
Deposited	4 months, 1 week ago (April 23, 2025, 11:06 p.m.)
Indexed	4 months, 1 week ago (April 23, 2025, 11:40 p.m.)
Issued	18 years, 8 months ago (Jan. 1, 2007)
Published	18 years, 8 months ago (Jan. 1, 2007)
Published Online	18 years, 2 months ago (June 29, 2007)
Published Print	18 years, 8 months ago (Jan. 1, 2007)

Funders 0

None

BibTeX

@article{van_der_Zee_2007, title={Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions: A Molecular Genetic Update}, volume={4}, ISSN={1660-2862}, url={http://dx.doi.org/10.1159/000101847}, DOI={10.1159/000101847}, number={2–3}, journal={Neurodegenerative Diseases}, publisher={S. Karger AG}, author={van der Zee, Julie and Gijselinck, Ilse and Pirici, Daniel and Kumar-Singh, Samir and Cruts, Marc and Van Broeckhoven, Christine}, year={2007}, pages={227–235} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        4,
        24
      ]
    ],
    "date-time": "2025-04-24T03:40:11Z",
    "timestamp": 1745466011099,
    "version": "3.40.4"
  },
  "reference-count": 44,
  "publisher": "S. Karger AG",
  "issue": "2-3",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            2007,
            1,
            1
          ]
        ],
        "date-time": "2007-01-01T00:00:00Z",
        "timestamp": 1167609600000
      },
      "content-version": "vor",
      "delay-in-days": 0,
      "URL": "https://www.karger.com/Services/SiteLicenses"
    },
    {
      "start": {
        "date-parts": [
          [
            2007,
            1,
            1
          ]
        ],
        "date-time": "2007-01-01T00:00:00Z",
        "timestamp": 1167609600000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "https://www.karger.com/Services/SiteLicenses"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        2007
      ]
    ]
  },
  "abstract": "<jats:p>Frontotemporal lobar degeneration (FTLD) is a clinically, pathologically and genetically highly complex disorder. In the last few years enormous progress has been made in dissecting the genetic etiology of FTLD. Mutations have been identified in the progranulin gene &lt;i&gt;(PGRN)&lt;/i&gt;, the charged multivesicular body protein 2B gene &lt;i&gt;(CHMP2B)&lt;/i&gt; and the valosin-containing protein gene &lt;i&gt;(VCP)&lt;/i&gt;. Mutations in these genes all lead to FTLD pathology characterized by ubiquitin-immunoreactive neuronal cytoplasmic and intranuclear lentiform inclusions (FTLD-U). The similar pathology suggests that these genes may be connected trough a common disease pathway leading to neurodegeneration and the formation of these pathognomic inclusions. This review focuses on the molecular genetic processes underlying FTLD-U pathology.</jats:p>",
  "DOI": "10.1159/000101847",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2007,
        6,
        27
      ]
    ],
    "date-time": "2007-06-27T06:31:53Z",
    "timestamp": 1182925913000
  },
  "page": "227-235",
  "source": "Crossref",
  "is-referenced-by-count": 20,
  "title": "Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions: A Molecular Genetic Update",
  "prefix": "10.1159",
  "volume": "4",
  "author": [
    {
      "given": "Julie",
      "family": "van der Zee",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "Ilse",
      "family": "Gijselinck",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Daniel",
      "family": "Pirici",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Samir",
      "family": "Kumar-Singh",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Marc",
      "family": "Cruts",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Christine",
      "family": "Van Broeckhoven",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "127",
  "published-online": {
    "date-parts": [
      [
        2007,
        6,
        29
      ]
    ]
  },
  "reference": [
    {
      "key": "ref1",
      "doi-asserted-by": "publisher",
      "DOI": "10.1212%2FWNL.51.6.1546"
    },
    {
      "key": "ref2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1212%2FWNL.58.11.1615"
    },
    {
      "key": "ref3",
      "doi-asserted-by": "publisher",
      "DOI": "10.1136%2Fjnnp.74.9.1206"
    },
    {
      "key": "ref4",
      "doi-asserted-by": "publisher",
      "DOI": "10.1001%2Farchneur.62.6.925"
    },
    {
      "key": "ref5",
      "doi-asserted-by": "publisher",
      "DOI": "10.1111%2Fj.1365-2990.2003.00545.x"
    },
    {
      "key": "ref6",
      "doi-asserted-by": "publisher",
      "DOI": "10.1007%2Fs00401-004-0900-9"
    },
    {
      "key": "ref7",
      "doi-asserted-by": "publisher",
      "DOI": "10.1097%2F01.jnen.0000174335.27708.0a"
    },
    {
      "key": "ref8",
      "doi-asserted-by": "publisher",
      "DOI": "10.1046%2Fj.0305-1846.2003.00481.x"
    },
    {
      "key": "ref9",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016%2FS0140-6736%2899%2905207-1"
    },
    {
      "key": "ref10",
      "doi-asserted-by": "publisher",
      "DOI": "10.1126%2Fscience.1134108"
    },
    {
      "key": "ref11",
      "doi-asserted-by": "publisher",
      "DOI": "10.1001%2Farchneur.56.7.817"
    },
    {
      "key": "ref12",
      "doi-asserted-by": "publisher",
      "DOI": "10.1001%2Farchneur.58.3.383"
    },
    {
      "key": "ref13",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093%2Fbrain%2Fawg204"
    },
    {
      "key": "ref14",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038%2F31508"
    },
    {
      "key": "ref15",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038%2Fnature05016"
    },
    {
      "key": "ref16",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038%2Fnature05017"
    },
    {
      "key": "ref17",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038%2Fng1609"
    },
    {
      "key": "ref18",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038%2Fng1332"
    },
    {
      "key": "ref19",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093%2Fbrain%2F124.10.1948"
    },
    {
      "key": "ref20",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038%2Fsj.mp.4001198"
    },
    {
      "key": "ref21",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093%2Fbrain%2Fawl029"
    },
    {
      "key": "ref22",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093%2Fbrain%2Fawh724"
    },
    {
      "key": "ref23",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093%2Fhmg%2Fddi182"
    },
    {
      "key": "ref24",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093%2Fhmg%2F8.4.711"
    },
    {
      "key": "ref25",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038%2Fng1508"
    },
    {
      "key": "ref26",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002%2Fhumu.20391"
    },
    {
      "key": "ref27",
      "doi-asserted-by": "publisher",
      "DOI": "10.1007%2Fs00109-003-0474-3"
    },
    {
      "key": "ref28",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038%2Fnm816"
    },
    {
      "key": "ref29",
      "doi-asserted-by": "publisher",
      "DOI": "10.1046%2Fj.1471-4159.2001.t01-1-00231.x"
    },
    {
      "key": "ref30",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002%2Fana.20963"
    },
    {
      "key": "ref31",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002%2Fana.20969"
    },
    {
      "key": "ref32",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093%2Fhmg%2Fddl241"
    },
    {
      "key": "ref33",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093%2Fhmg%2F4.9.1625"
    },
    {
      "key": "ref34",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016%2FS1534-5807%2802%2900220-4"
    },
    {
      "key": "ref35",
      "doi-asserted-by": "publisher",
      "DOI": "10.1212%2F01.wnl.0000231510.89311.8b"
    },
    {
      "key": "ref36",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016%2Fj.neulet.2005.12.056"
    },
    {
      "key": "ref37",
      "doi-asserted-by": "publisher",
      "DOI": "10.1006%2Fmgme.2001.3256"
    },
    {
      "key": "ref38",
      "doi-asserted-by": "publisher",
      "DOI": "10.1097%2F00005072-200606000-00005"
    },
    {
      "key": "ref39",
      "doi-asserted-by": "publisher",
      "DOI": "10.1128%2FMCB.22.2.626-634.2002"
    },
    {
      "key": "ref40",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038%2F414652a"
    },
    {
      "key": "ref41",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038%2Fnsb972"
    },
    {
      "key": "ref42",
      "doi-asserted-by": "publisher",
      "DOI": "10.1212%2F01.wnl.0000225184.14578.d3"
    },
    {
      "key": "ref43",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002%2Fana.20407"
    },
    {
      "key": "ref44",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093%2Fhmg%2Fddi426"
    }
  ],
  "container-title": "Neurodegenerative Diseases",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://www.karger.com/Article/Pdf/101847",
      "content-type": "application/pdf",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "https://www.karger.com/Article/Pdf/101847",
      "content-type": "unspecified",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2025,
        4,
        24
      ]
    ],
    "date-time": "2025-04-24T03:06:23Z",
    "timestamp": 1745463983000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://karger.com/article/doi/10.1159/000101847"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        2007
      ]
    ]
  },
  "references-count": 44,
  "journal-issue": {
    "issue": "2-3",
    "published-online": {
      "date-parts": [
        [
          2007,
          6,
          1
        ]
      ]
    }
  },
  "URL": "http://dx.doi.org/10.1159/000101847",
  "relation": {},
  "ISSN": [
    "1660-2854",
    "1660-2862"
  ],
  "subject": [],
  "container-title-short": "Neurodegener Dis",
  "published": {
    "date-parts": [
      [
        2007
      ]
    ]
  }
}