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Cerebellar Ataxia With Progressive Improvement
Jack W. Tsao, MD, DPhil;
Jason Neal, BS;
Kira Apse, MS;
Mark J. Stephan, MD;
William B. Dobyns, MD, PhD;
Robert S. Hill, PhD;
Christopher A. Walsh, MD, PhD;
Volney L. Sheen, MD, PhD
Arch Neurol. 2006;63:594-597.
Background Nonprogressive cerebellar ataxias are characterized by a persistent, nonprogressive ataxia associated with cognitive impairment. Cerebellar hypoplasia on imaging is variable but is not predictive of the degree of ataxia or cognitive impairment.
Objective To describe a family with a nonprogressive cerebellar ataxia associated with cognitive and motor impairments that improve with age.
Design Genetic study in a family with nonprogressive cerebellar ataxia. Clinical and imaging features are also described.
Setting Community hospital.
Patients Both parents and 3 children from an affected family.
Main Outcome Measures Clinical features, magnetic resonance imaging findings, and genetic findings.
Results A genome-wide single nucleotide polymorphism screen did not show clear linkage to known spinocerebellar ataxia loci, in particular spinocerebellar ataxia type 15. Repeat spinocerebellar ataxia loci expansions were excluded. Magnetic resonance images of all affected individuals demonstrated cerebellar vermian abnormalities.
Conclusions These findings suggest that nonprogressive cerebellar ataxia is genetically heterogeneous and, when associated with gradual improvement in cognition and motor skills, likely represents a separate, distinct clinical entity.
Author Affiliations: Department of Neurology, Uniformed Services University of the Health Sciences, Bethesda, Md (Dr Tsao); Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Department of Neurology, Harvard Medical School, Boston, Mass (Mr Neal; Ms Apse; and Drs Hill, Walsh, and Sheen); Developmental Pediatrics, Madigan Army Medical Center, Tacoma, Wash (Dr Stephan); and Department of Human Genetics, University of Chicago, Chicago, Ill (Dr Dobyns).
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