Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I

Takano, Kyoko; Nakamoto, Tetsu; Okajima, Maki; Sudo, Akira; Uetake, Kimiaki; Saitoh, Shinji

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

« Previous Next »Pediatric Neurology
Volume 28, Issue 2 , Pages 142-144, February 2003

Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I

Kyoko Takano, MD
- Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
Tetsu Nakamoto, MD
- Department of Pediatrics, Obihiro Kosei Hospital, Obihiro, Japan
Maki Okajima, MD
- Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
Akira Sudo, MD
- Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
Kimiaki Uetake, MD
- Department of Pediatrics, Obihiro Kosei Hospital, Obihiro, Japan
Shinji Saitoh, MD, PhD
- Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
- Correspondence 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.

Abstract

We report on an 11-year-old boy with familial juvenile nephronophthisis type I associated with cerebellar ataxia and nystagmus, but not with ocular motor apraxia. An MRI revealed hypoplasia of the brainstem and vermis, and an enlargement of the fourth ventricle. A molecular genetic analysis demonstrated a homozygous deletion including the NPHP1 gene. These findings suggest that NPHP1 may play an important role in the normal development of the brainstem and the cerebellum as well as renal tissue.

Keywords: Nephronophthisis, NPHP1, cerebellar ataxia, ocular motor apraxia Cogan type I