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Neurology 2000;54:2325-2328
© 2000 American Academy of Neurology

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Brief Communications

Ataxia, deafness, leukodystrophy: Inherited disorder of the white matter in three related patients

V. Leuzzi, MD, A. Rinna, MD, M. Gallucci, MD, M. Di Capua, MD, C. Dionisi–Vici, MD, D. Longo, MD and E. Bertini, MD

From the Dipartimento di Scienze Neurologiche e Psichiatriche dell’Età Evolutiva (Drs. Leuzzi and Rinna), Università "la Sapienza," Rome; the Servizio di Neuroradiologia Università de L’Aquila (Dr. Gallucci); and the Ospedale Bambino Gesù (Drs. Capua, Dionisi–Vici, Longo, and Bertini), Molecular Medicine, Rome, Italy.

Address correspondence and reprint requests to Dr. Vincenzo Leuzzi, Istituto di Neuropsichiatria Infantile, Via dei Sabelli 108, 00185, Rome, Italy.

The authors report three related patients, two girls and a boy, presenting a distinctive clinical phenotype characterized by early-onset, slowly progressive ataxia. Subsequently these patients experienced sensorineural deafness, resulting in complete hearing loss by the age of 12 years, and exhibited leukodystrophy on brain MRI. There was no mental deterioration. An extensive neurometabolic assessment failed to detect any anomalies in the three patients. The patients originated from a large consanguineous family in southern Italy (Calabria), with a pedigree that was traced back five generations. The disease’s pattern of transmission suggests an autosomal recessive trait.

Key words: Ataxia—Deafness—Leukodystrophy.

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