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Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic

From the Department of Neurology (Drs. Houlden and Orrell), Royal Free Hospital, London; Department of Neuroscience (S. Lincoln and Dr. Farrer), Mayo Clinic Jacksonville, FL; Department of Neurology (Dr. Cleland), Newcastle General Hospital, Newcastle-upon-Tyne, UK; Department of Neuroscience (Dr. Hardy), NIH, Bethesda, MD; and University Department of Clinical Neurosciences (Dr. Orrell), Royal Free and University College Medical School, University College London, UK.

Address correspondence and reprint requests to Dr. Richard W. Orrell, University Department of Clinical Neurosciences, Royal Free and University College Medical School (Royal Free Campus), Rowland Hill Street, London NW3 2PF, England; e-mail: r.orrell{at}rfc.ucl.ac.uk

The authors describe a patient with hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) who has two compound heterozygote mutations of the PANK2 gene. IVS4–1 G>T segregates with the lipid and erythrocyte changes in the mother and sister. No other family members have the lipid, erythrocyte, or clinical abnormalities. The father and two brothers are heterozygous for Met327Thr. One other mutation has been found in this PANK2 region associated with the HARP phenotype, suggesting a local genotype effect.

Received March 27, 2003. Accepted in final form June 13, 2003.

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