HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Lanska, D. J. Articles by Markesbery, W. R. Search for Related Content PubMed PubMed Citation Articles by Lanska, D. J. Articles by Markesbery, W. R.

Familial progressive subcortical gliosis

Department of Neurology (Drs. Lanska and Markesbery), the Department of Pathology (Dr. Markesbery), the Department of Preventive Medicine and Environmental Health (Dr. Lanska), the Sanders-Brown Center on Aging (Drs. Lanska and Markesbery), and the Alzheimer's Disease Research Center (Drs. Lanska and Markesbery), University of Kentucky Medical Center, and the Department of Neurology (Dr. Lanska), Veterans Administration Medical Center, Lexington, KY; the Departments of Neurology (Dr. Currier), Pathology (Drs. Smith and Bebin), and Genetics (Dr. Jackson), University of Mississippi Medical Center, Jackson, MS; and the Department of Pathology (Drs. Cohen and Gambetti), the Department of Neurology (Dr. Whitehouse), and the Alzheimer Center (Dr. Whitehouse), University Hospitals of Cleveland and Case Western Reserve University School of Medicine, Cleveland, OH.

We report clinical and pathologic findings from two kindreds afflicted with a familial form of progressive subcortical gliosis. The disorder segregated as an autosomal dominant trait. Onset was in the presenium and the course was slowly progressive. Affected individuals initially manifested personality change, degeneration of social ability, disinhibition, psychotic symptoms, memory impairment, or depression. Later, all developed progressive dementia, frequently associated with verbal stereotypy, decreased speech output, echolalia, or manifestations of the human Klüver-Bucy syndrome. Terminal clinical manifestations included profound dementia, frequently with mutism, dysphagia, and extrapyramidal signs. Autopsy of seven end-stage patients revealed generalized cerebral atrophy, predominantly involving the white matter of the frontal and temporal lobes. Microscopically, prominent fibrillary astrocytosis was present in the subcortical white matter and in the subpial and deep layers of the overlying cerebral cortex. These changes were most pronounced in the frontal and temporal lobes, especially in the cingulate gyri and insulae. Mild cortical neuronal loss accompanied the gliosis, but no myelin loss was evident. The claustra and substantia nigra also showed severe astrocytosis and degenerative changes. Amyloid deposits and neuronal cytoskeletal inclusions were absent.

Address correspondence and reprint requests to Dr. Douglas J. Lanska, Department of Neurology, University of Kentucky Medical Center, MS-129, 800 Rose Street, Lexington, KY 40536-0084.

Supported in part by grants from the National Institutes of Health (CIDA K08-NS-01549, T32-AG-00144, P50-AG-05144, P01-AG-05119, P50-AG-08012, and LEAD award AG-08922) and by the Office of Research and Development, Department of Veterans Affairs (Research Advisory Group funding to D.J.L.).

Received October 29, 1993. Accepted in final form February 21, 1994.

This article has been cited by other articles:

				R. H. Swerdlow, B. B. Miller, M.B.S. Lopes, J. W. Mandell, G. F. Wooten, P. Damgaard, C. Manning, M. Fowler, and H. R. Brashear Autosomal dominant subcortical gliosis presenting as frontotemporal dementia Neurology, January 20, 2009; 72(3): 260 - 267. [Abstract] [Full Text] [PDF]

				J. D. Warren, J. M. Schott, N. C. Fox, M. Thom, T. Revesz, J. L. Holton, F. Scaravilli, D. G. T. Thomas, G. T. Plant, P. Rudge, et al. Brain biopsy in dementia Brain, September 1, 2005; 128(9): 2016 - 2025. [Abstract] [Full Text] [PDF]

				Y. Tsuboi, R. J. Uitti, M.-B. Delisle, J. J. Ferreira, C. Brefel-Courbon, O. Rascol, B. Ghetti, J. R. Murrell, M. Hutton, M. Baker, et al. Clinical Features and Disease Haplotypes of Individuals With the N279K tau Gene Mutation: A Comparison of the Pallidopontonigral Degeneration Kindred and a French Family Arch Neurol, June 1, 2002; 59(6): 943 - 950. [Abstract] [Full Text] [PDF]

				J. C. Janssen, E. K. Warrington, H. R. Morris, P. Lantos, J. Brown, T. Revesz, N. Wood, M. N. Khan, L. Cipolotti, N. C. Fox, et al. Clinical features of frontotemporal dementia due to the intronic tau 10+16 mutation Neurology, April 23, 2002; 58(8): 1161 - 1168. [Abstract] [Full Text] [PDF]

				S. M. Pickering-Brown, A. M. T. Richardson, J. S. Snowden, A. M McDonagh, A. Burns, W. Braude, M. Baker, W.-K. Liu, S.-H. Yen, J. Hardy, et al. Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene Brain, April 1, 2002; 125(4): 732 - 751. [Abstract] [Full Text] [PDF]

				J. A. Mastrianni, S. Capellari, G. C. Telling, D. Han, P. Bosque, S. B. Prusiner, and S. J. DeArmond Inherited prion disease caused by the V210I mutation: Transmission to transgenic mice Neurology, December 26, 2001; 57(12): 2198 - 2205. [Abstract] [Full Text] [PDF]

				L. A. Hayman, J. L. Rexer, M. A. Pavol, D. Strite, and C. A. Meyers Kluver-Bucy Syndrome After Bilateral Selective Damage of Amygdala and Its Cortical Connections J Neuropsychiatry Clin Neurosci, August 1, 1998; 10(3): 354 - 358. [Abstract] [Full Text]