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Studies of the candidate genes in X-linked congenital cerebellar hypoplasia

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Abstract

A gene for X-linked congenital cerebellar hypoplasia was recently localized to chromosome Xp11.21-q24. This region comprises several brain-specific genes responsible for various neurological disorders, including the proteolipid protein (PLP), doublecortin, and PAK3 genes. We screened these genes for mutations in patients with X-linked congenital cerebellar hypoplasia and found no pathogenic nucleotide changes or gene dose alterations. These findings allow the ruling out of PLP, doublecortin, and PAK3 as the disease-causing genes in this hereditary neurological syndrome.

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Authors and Affiliations

  1. Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Volokolamskoye Shosse 80, Moscow 123367, Russia e-mail: neurolog@aha.ru, Tel.: +7-95-4902043, Fax: +7-95-4902210, , , , , , RU

    S. N. Illarioshkin, Elena D. Markova & Irina A. Ivanova-Smolenskaya

  2. Division of Neurogenetics, Beth Israel Deaconess Medical Center, and Programs in Neuroscience and Biological/Biomedical Sciences, Harvard Medical School, Boston, Mass., USA, , , , , , IL

    Kristina M. Allen, Joseph G. Gleeson & Christopher A. Walsh

  3. Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan, , , , , , JP

    Shoji Tsuji & Takeshi Ikeuchi

Authors
  1. S. N. Illarioshkin
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  2. Kristina M. Allen
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  3. Joseph G. Gleeson
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  4. Shoji Tsuji
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  5. Takeshi Ikeuchi
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  6. Elena D. Markova
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  7. Christopher A. Walsh
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  8. Irina A. Ivanova-Smolenskaya
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Additional information

Received: 31 March 1999 Received in revised form: 11 August 1999 Accepted: 22 August 1999

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Illarioshkin, S., Allen, K., Gleeson, J. et al. Studies of the candidate genes in X-linked congenital cerebellar hypoplasia. J Neurol 246, 1177–1180 (1999). https://doi.org/10.1007/s004150050539

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  • DOI: https://doi.org/10.1007/s004150050539

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