Progressive apraxia in clinically discordant monozygotic twins

R. J. Caselli, E. M. Reiman, D. Timmann, G. E. Stelmach, M. A. Lawson, D. Osborne, S. B. Moore and M. J. Cevette
Section of Neurology, Mayo Clinic, Scottsdale (Ariz), USA.

OBJECTIVE: To determine disease concordancy in the first identical twin with corticobasal degeneration. The patients were 63-year-old, erythrocyte antigen-confirmed monozygotic male twins who were clinically discordant for progressive apraxia caused by corticobasal degeneration. INTERVENTIONS: Neuropsychologic and kinesiologic testing, magnetic resonance imaging, and positron emission tomographic measurements of cerebral metabolic rate for glucose. RESULTS: The affected twin had lower neuropsychologic and kinesiologic test scores than did his brother, particularly on tests sensitive to right-compared with left-hemisphere function; widespread cerebral atrophy, worst in right parietotemporal cortices; and reduced whole-brain cerebral metabolic rate for glucose, worst in right posterior cortices. The clinically asymptomatic twin had normal neuropsychologic and kinesiologic test scores but performed more poorly on tests sensitive to left- compared with right-hemisphere function; had no abnormalities on magnetic resonance imaging; and had left temporoparietal as well as mild whole-brain hypometabolism. CONCLUSIONS: Corticobasal degeneration may remain clinically discordant in identical twins after 7 years. Positron emission tomography and neuropsychologic findings suggest the possibility of a preclinical stage of corticobasal degeneration. There is generalized cortical atrophy in patients with corticobasal degeneration in addition to focal atrophy.