Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Podcast
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Swerdlow, R. H.
Right arrow Articles by Brashear, H. R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Swerdlow, R. H.
Right arrow Articles by Brashear, H. R.
Related Collections
Right arrow Other cerebrovascular disease/ Stroke
Right arrow Leukodystrophies
Right arrow Frontotemporal dementia
NEUROLOGY 2009;72:260-267
© 2009 American Academy of Neurology

Autosomal dominant subcortical gliosis presenting as frontotemporal dementia

R. H. Swerdlow, MD, B. B. Miller, MD, PhD, M.B.S. Lopes, MD, J. W. Mandell, MD, PhD, G. F. Wooten, MD, P. Damgaard, RN, C. Manning, PhD, M. Fowler, MD and H. R. Brashear, MD

From the Department of Neurology (R.H.S.), University of Kansas School of Medicine, Kansas City; and the Departments of Neuropathology (B.B.M., M.B.S.L., J.W.M.) and Neurology (G.F.W., P.D., C.M., M.F., H.R.B.), University of Virginia School of Medicine, Charlottesville.

Address correspondence and reprint requests to Dr. Russell H. Swerdlow, University of Kansas School of Medicine, Landon Center on Aging, MS 2012, 3901 Rainbow Boulevard, Kansas City, KS 66160 rswerdlow{at}kumc.edu

Objective: To describe a multigenerational kindred with a frontotemporal dementia clinical syndrome (FTDS), extensive subcortical gliosis pathology, and autosomal dominant genetics.

Methods: Clinical, imaging, and pathologic evaluations of multiple family members.

Results: Symptom onset commonly occurred in the fifth or sixth decade, although some kindred members did not develop obvious symptoms until their eighth decade. White matter changes were prominent on both MRI and CT imaging. Results from six brain autopsy evaluations showed consistent but varying degrees of pathology that, while unique, share some histologic similarities with leukodystrophies. These brains were notably devoid of both tau- and ubiquitin-containing inclusions.

Conclusions: Subcortical gliosis in this kindred arises from mutation of a novel gene or else represents a unique frontotemporal dementia clinical syndrome variant caused by mutation of an already known gene. Clinical relevance and research implications are discussed.

Abbreviations: AD = Alzheimer disease; FTD = frontotemporal dementia; FTDS = frontotemporal dementia clinical syndrome; GFAP = glial fibrillary acidic protein; H-E = hematoxylin and eosin; HDLS = hereditary diffuse leukoencephalopathy with spheroids; MDRS = Mattis Dementia Rating Scale; MMSE = Mini-Mental State Examination; PD = Parkinson disease; PrP = prion protein; SPECT = single photon emission tomography; TDP43 = TAR DNA-binding protein 43; UVA = University of Virginia; VWM = vanishing white matter disease.

Disclosure: The authors report no disclosures.

Received May 15, 2008. Accepted in final form October 14, 2008.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2009 by AAN Enterprises, Inc.