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An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

Acknowledgement to Referees 2006/2007

Neurogenetics : Volume 8, Issue 3, August 2007

Neurogenetics : Volume 8, Issue 2, April 2007

Neurogenetics : Volume 8, Issue 1, January 2007

Neurogenetics : Volume 7

Neurogenetics : Volume 6

Neurogenetics : Volume 5

Neurogenetics : Volume 4

Neurogenetics : Volume 3

Neurogenetics : Volume 2

Neurogenetics : Volume 1

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

Content Provider	Springer Nature Link
Author	Mackenzie, Ian R. A. Rademakers, Rosa
Copyright Year	2007
Abstract	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.
Starting Page	237
Ending Page	248
Page Count	12
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	8
Issue Number	4
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2007-09-06
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Frontotemporal dementia Frontotemporal lobar degeneration FTLD-U Progranulin mutations TDP-43 Molecular Medicine Human Genetics Neurosciences
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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