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NEUROLOGY 2004;63:922-924
© 2004 American Academy of Neurology
Brief Communications

Infantile neuroaxonal dystrophy and pantothenate kinase-associated neurodegeneration

Locus heterogeneity

K. Hörtnagel, MD, N. Nardocci, MD, G. Zorzi, MD, B. Garavaglia, PhD, E. Botz, T. Meitinger, MD and T. Klopstock, MD

From the Institute of Human Genetics (Drs. Hörtnagel and Meitinger, and E. Botz), GSF Research Center for Environment and Health, Neuherberg, Germany; Departments of Child Neurology (Drs. Nardocci and Zorzi) and Molecular Neurogenetics (Dr. Garavaglia), National Neurological Institute "Carlo Besta," Milan, Italy; Institute of Human Genetics (Dr. Meitinger), Technical University of Munich; and Department of Neurology (Dr. Klopstock), Klinikum Grosshadern, Ludwig-Maximilians-University, Munich, Germany.

Address correspondence and reprint requests to Dr. Thomas Klopstock, Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-University, 81377 Munich, Germany; e-mail: klopstock{at}nefo.med.uni-muenchen.de

Common clinical, radiologic, and pathologic features in infantile neuroaxonal dystrophy (INAD) and pantothenate kinase-associated neurodegeneration (PKAN) have led to the hypothesis of an allelic relationship. With the discovery of the gene defect in PKAN, this can now be tested directly. The authors excluded linkage in one consanguineous INAD family by haplotype analysis. Moreover, sequencing in seven INAD families revealed no mutations in PANK2 or in other genes of CoA biogenesis. Thus, INAD and PKAN are genetically heterogeneous disorders.

Received February 20, 2004. Accepted in final form May 5, 2004.




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[Abstract] [PDF]


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