| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH |
|
|
|
|||||||
|
|||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
From the MRC Prion Unit (N.P., G.S., J.C.) and Department of Neurodegenerative Disease (J.C., E.M.C.F.), Institute of Neurology, University College London, London, UK; Academic Units of Pathology (P.G.I., M.O.S., R.H.) and Neurology (P.J.S.), University of Sheffield, Sheffield, UK; Department of Neurology and Clinical Neuroscience (P.M.A.), Umeå University Hospital, Umeå, Sweden; Division of Neuroscience (K.E.M., H.S.P.), University of Birmingham, Birmingham, UK; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Eire.
* To whom correspondence should be addressed. E-mail: p.g.ince{at}shef.ac.uk.
Abstract-- Mutation in the CHMP2B gene has been implicated in frontotemporal dementia. The authors screened CHMP2B in patients with ALS and several cohorts of control samples. They identified mutations (Q206H; I29V) in two patients with non-SOD1 ALS. Neuropathology of the Q206H case showed lower motor neuron predominant disease with ubiquitylated inclusions in motor neurons. Antibodies to p62 (sequestosome 1) showed novel oligodendroglial inclusions in the motor cortex.
This article has been cited by other articles:
|
|
 |
|
  C. J. Ferguson, G. M. Lenk, and M. H. Meisler Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2 Hum. Mol. Genet., December 15, 2009; 18(24): 4868 - 4878. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. Le Ber, A. Camuzat, E. Berger, D. Hannequin, A. Laquerriere, V. Golfier, D. Seilhean, G. Viennet, P. Couratier, P. Verpillat, et al. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease Neurology, May 12, 2009; 72(19): 1669 - 1676. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. P. Choe and K. Strange Genome-wide RNAi screen and in vivo protein aggregation reporters identify degradation of damaged proteins as an essential hypertonic stress response Am J Physiol Cell Physiol, December 1, 2008; 295(6): C1488 - C1498. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Vergarajauregui, P. S. Connelly, M. P. Daniels, and R. Puertollano Autophagic dysfunction in mucolipidosis type IV patients Hum. Mol. Genet., September 1, 2008; 17(17): 2723 - 2737. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I P Blair, C Vance, J C Durnall, K L Williams, A Thoeng, C E Shaw, and G A Nicholson CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis J. Neurol. Neurosurg. Psychiatry, July 1, 2008; 79(7): 849 - 850. [Full Text] [PDF]
|
|
|
|
 |
|
 I. R. A. Mackenzie, D. Foti, J. Woulfe, and T. A. Hurwitz Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions Brain, May 1, 2008; 131(5): 1282 - 1293. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Filimonenko, S. Stuffers, C. Raiborg, A. Yamamoto, L. Malerod, E. M.C. Fisher, A. Isaacs, A. Brech, H. Stenmark, and A. Simonsen Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease J. Cell Biol., November 5, 2007; 179(3): 485 - 500. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J.C. Schymick, K. Talbot, and B.J. Traynor Genetics of sporadic amyotrophic lateral sclerosis Hum. Mol. Genet., October 15, 2007; 16(R2): R233 - R242. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Kasperaviciute, M. E. Weale, K. V. Shianna, G. T. Banks, C. L. Simpson, V. K. Hansen, M. R. Turner, C. E. Shaw, A. Al-Chalabi, H. S. Pall, et al. Large-scale pathways-based association study in amyotrophic lateral sclerosis Brain, September 1, 2007; 130(9): 2292 - 2301. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Seelaar, H. Jurgen Schelhaas, A. Azmani, B. Kusters, S. Rosso, D. Majoor-Krakauer, M. C. de Rijik, P. Rizzu, M. ten Brummelhuis, P. A. van Doorn, et al. TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations Brain, May 1, 2007; 130(5): 1375 - 1385. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Gal, A.-L. Strom, R. Kilty, F. Zhang, and H. Zhu p62 Accumulates and Enhances Aggregate Formation in Model Systems of Familial Amyotrophic Lateral Sclerosis J. Biol. Chem., April 13, 2007; 282(15): 11068 - 11077. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. N. Valdmanis, N. Dupre, J.-P. Bouchard, W. Camu, F. Salachas, V. Meininger, M. Strong, and G. A. Rouleau Three Families With Amyotrophic Lateral Sclerosis and Frontotemporal Dementia With Evidence of Linkage to Chromosome 9p Arch Neurol, February 1, 2007; 64(2): 240 - 245. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH |
