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 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 Schmidley, J. W. Articles by Manetto, V. Search for Related Content PubMed PubMed Citation Articles by Schmidley, J. W. Articles by Manetto, V.

Infantile X-linked ataxia and deafness

A new clinicopathologic entity?

Departments of Neurology (Dr. Schmidley) and Pathology (Dr. Manetto), University Hospitals of Cleveland; the Departments of Neurology and Pediatrics (Dr. Levinsohn), Rainbow Babies and Children's Hospital; and the School of Medicine, Case Western Reserve University (Drs. Schmidley and Levinsohn), Cleveland, OH.

We describe an X-linked disorder of the CNS, characterized by onset, in infancy, of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropias, and optic atrophy, and by a progressive course leading to death in childhood. Pathologically, neuron loss and gliosis of the dentate nucleus and inferior olive are conspicuous; involvement of the cerebellar cortex is less prominent. In the proband, the red nucleus, dorsal motor nucleus of the vagus, and central auditory pathways were severely affected. The mother of the proband, now 33, has self-limited episodes of ataxia, and cerebellar atrophy for which no other cause is apparent. The unique heredity, pathology, and clinical picture distinguish this entity from previously described inherited or metabolic ataxias.

Address correspondence and reprint requests to Dr. Schmidley, Department of Neurology, 2074 Abington Road, Cleveland, OH 44106–5000.

Received September 15, 1986. Accepted for publication in final form November 18, 1986.

This article has been cited by other articles:

				P. Strømme, K. Sundet, C. Mørk, J.-J. Cassiman, J.-P. Fryns, and S. Claes X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11 J. Med. Genet., May 1, 1999; 36(5): 374 - 378. [Abstract] [Full Text]

				B. C J Hamel, P. Wesseling, W. O Renier, B. van den Helm, H.-H. Ropers, H. Kremer, and E. C M Mariman A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region J. Med. Genet., February 1, 1999; 36(2): 140 - 143. [Abstract] [Full Text]