Pediatric Neurology
Volume 28, Issue 2 , Pages 142-144 , February 2003

Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I

  • Kyoko Takano, MD

      Affiliations

    • Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
    • ,
  • Tetsu Nakamoto, MD

      Affiliations

    • Department of Pediatrics, Obihiro Kosei Hospital, Obihiro, Japan
    • ,
  • Maki Okajima, MD

      Affiliations

    • Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
    • ,
  • Akira Sudo, MD

      Affiliations

    • Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
    • ,
  • Kimiaki Uetake, MD

      Affiliations

    • Department of Pediatrics, Obihiro Kosei Hospital, Obihiro, Japan
    • ,
  • Shinji Saitoh, MD, PhD

      Affiliations

    • Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
    • Corresponding Author InformationCorrespondence should be addressed to:Dr. Saitoh; Department of Pediatrics; Hokkaido University School of Medicine; N-15, W-7, Kita-ku, Sapporo 060-8638, Japan.

Received 29 November 2001 ,Accepted 2 October 2002.

References 

  1. Hildebrandt F. Nephronophthisis. In:  Avner ED,  Barratt TM,  Harmon W editor. Pediatric Nephrology. 4th edition. Baltimore: Lippincott Williams & Wilkins; 1999;p. 453–458
  2. Hildebrandt F, Strahm B, Nothwang HG, et al.  Molecular genetic identification of families with juvenile nephronophthisis type 1 (Rate of progression to renal failure). Kidney Int. 1997;51:261–269
  3. Konrad M, Saunier S, Heidet L, et al.  Large homozygous deletion of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet. 1996;5:367–371
  4. Saunier S, Calado J, Benessy F, et al.  Characterization of the NPHP1 locus (Mutational mechanism involved in deletions in familial juvenile nephronophthisis). Am J Hum Genet. 2000;66:778–789
  5. Hildebrandt F, Omram H. New insights (Nephronophthisis-medullary cystic kidney disease). Pediatr Nephrol. 2001;16:168–176
  6. Hashimoto T, Tayama M, Miyazaki M, Kuroda Y. Development of the brainstem (Assessment by MR imaging). Neuropediatrics. 1991;22:139–146
  7. Nothwang HG, Stubanus M, Adolphs J, et al.  Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-13. Genomics. 1998;47:276–285
  8. Betz R, Rensing C, Otto E, et al.  Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr. 2000;136:828–831
  9. Adamsbaum C, Moreau V, Bulteau C, Burstyn J, Milan FL, Kalifa G. Vermian agenesis without posterior fossa cyst. Pediatr Radiol. 1994;24:543–546
  10. Harris CM, Hodgkins PR, Kriss A, et al.  Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia. Dev Med Child Neurol. 1998;40:775–779
  11. Saunier S, Morin G, Calado J, Benessy F, Silbermann F, Anignac C. Large deletons of the NPH1 region in Cogan syndrome (CS) associated with familial juvenile nephronophthisis (NPH). Am J Hum Genet. 1997;61:A346
  12. Graber D, Antignac C, Deschenes G, et al.  Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver) (Difficult to classify syndromes). Arch Pediatr. 2001;8:186–190
  13. Vercelletto-Friol M, Lavenant F, Bricout JH, Venisse T, Vercelletto P, Feve JR. Congenital oculomotor apraxia with corpus callosum agenesis and subtentorial atrophy. Rev Neurol (Paris). 1986;142:140–144
  14. Satran D, Pierpont MEM, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes (More than just variants of Joubert syndrome). Am J Med Genet. 1999;86:459–469

PII: S0887-8994(02)00619-7

doi: 10.1016/S0887-8994(02)00619-7

Pediatric Neurology
Volume 28, Issue 2 , Pages 142-144 , February 2003

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