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Neurology 2003;60:862-864
© 2003 American Academy of Neurology
Brief Communications

Possible association of the tau H1/H1 genotype with primary progressive aphasia

M.-J. Sobrido, MD PhD, A. Abu–Khalil, BA, S. Weintraub, PhD, N. Johnson, PhD, B. Quinn, MD PhD, J. L. Cummings, MD, M.-M. Mesulam, MD and D. H. Geschwind, MD PhD

From the Neurogenetics Program (Drs. Sobrido and Geschwind, A. Abu–Khalil) and Dementia and Behavioral Neuroscience Program (Dr. Cummings), Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA; and Cognitive Neurology and Alzheimer’s Disease Center (Drs. Weintraub, Johnson, Quinn, and Mesulam), Departments of Neurology and Psychiatry and Behavioral Sciences, Northwestern University Medical School, Chicago, IL.

Address correspondence to Dr. Daniel H. Geschwind, UCLA Department of Neurology, 710 Westwood Plaza, Los Angeles, CA 90095-1769; e-mail: dhg{at}ucla.edu

The authors screened for tau gene mutations and polymorphisms to determine whether genetic variation at or near the tau locus contributes to the development of primary progressive aphasia (PPA). No mutations were detected in 25 patients with PPA. However, a significant overrepresentation of the tau H1/H1 genotype, also found in progressive supranuclear palsy and corticobasal degeneration, was found in the PPA group. Whether tau haplotypes have a primary causal role or whether they affect the topology of neurodegeneration remains to be determined.




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