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Infantile bilateral striatal necrosis maps to chromosome 19q

From the Department of Medical Genetics (Drs. Basel–Vanagaite and Shohat), Rabin Medical Center, Neurogenetics Clinic and Department of Pediatrics (Drs. Basel–Vanagaite and Straussberg), Schneider Children’s Medical Center of Israel, and Felsenstein Medical Research Center (Drs. Kaplan and Magal), Petah Tikva, Sackler Faculty of Medicine (Drs. Straussberg, Magal, and Shohat), Tel Aviv University, Department of Child Neurology (Dr. Shorer), Soroka Medical Center, Ben Gurion University, and Pediatrics Department (Dr. Shalev), Soroka Medical Center, Beersheba, Israel; and Division of Neurogenetics and Howard Hughes Medical Institute (Dr. Walsh), Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA.

Address correspondence and reprint requests to Dr. L. Basel–Vanagaite, Medical Genetics Department, Rabin Medical Center, Beilinson Campus, Petah Tikva, 49100, Israel; e-mail: basel{at}post.tau.ac.il

Background: Infantile bilateral striatal necrosis (IBSN) encompasses several syndromes of bilateral symmetric degeneration of the caudate nucleus, putamen, and globus pallidus. Autosomal recessive IBSN is characterized clinically by developmental arrest beginning at age 7 to 15 months, dysphagia, choreoathetosis, pendular nystagmus and optic atrophy, and severe progressive atrophy of the basal ganglia on MRI.

Objective: To map the gene causing IBSN.

Methods: A 10-cM genome-wide linkage scan was initially performed on five affected and five unaffected individuals. The extended family was included in the analysis to narrow the candidate region. Logarithm of odds (LOD) score was calculated using the SUPERLINK program.

Results: Linkage to the chromosomal region 19q13.32-13.41 was established (Z_max = 6.27 at theta = 0.02 at locus D19S412). Recombination events and a common disease-bearing haplotype defined a critical region of 1.2 Mb between the loci D19S596 proximally and D19S867 distally.

Conclusion: IBSN maps to the chromosomal region 19q13.32-13.41. The presence of a common haplotype in all the patients suggests that the disease is caused by a single mutation derived from a single ancestral founder in all the families.

Received May 16, 2003. Accepted in final form August 21, 2003.

Drs. Basel–Vanagaite and Straussberg contributed equally to this work.

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