Literature DB >> 12699867

Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.

Kyoko Takano1, Tetsu Nakamoto, Maki Okajima, Akira Sudo, Kimiaki Uetake, Shinji Saitoh.   

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.

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Year:  2003        PMID： 12699867     DOI： 10.1016/s0887-8994(02)00619-7

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  6 in total

1.  Nephronophthisis: diagnostic difficulties and recent advances in molecular genetic diagnostics.

Authors:  Atsushi Komatsuda; Hideki Wakui
Journal:  Clin Exp Nephrol       Date:  2005-12       Impact factor: 2.801

2.  Nephronophthisis in two siblings.

Authors:  Mamiko Ashizawa; Masanobu Miyazaki; Akira Furusu; Katsushige Abe; Yasuhide Kanamoto; Nobuaki Iwanaga; Yoshiyuki Ozono; Takashi Harada; Takashi Taguchi; Shigeru Kohno
Journal:  Clin Exp Nephrol       Date:  2005-12       Impact factor: 2.801

3.  CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Authors:  Nicholas T Gorden; Heleen H Arts; Melissa A Parisi; Karlien L M Coene; Stef J F Letteboer; Sylvia E C van Beersum; Dorus A Mans; Abigail Hikida; Melissa Eckert; Dana Knutzen; Abdulrahman F Alswaid; Hamit Ozyurek; Sel Dibooglu; Edgar A Otto; Yangfan Liu; Erica E Davis; Carolyn M Hutter; Theo K Bammler; Frederico M Farin; Michael Dorschner; Meral Topçu; Elaine H Zackai; Phillip Rosenthal; Kelly N Owens; Nicholas Katsanis; John B Vincent; Friedhelm Hildebrandt; Edwin W Rubel; David W Raible; Nine V A M Knoers; Phillip F Chance; Ronald Roepman; Cecilia B Moens; Ian A Glass; Dan Doherty
Journal:  Am J Hum Genet       Date:  2008-10-23       Impact factor: 11.025

Review 4.  Joubert syndrome: insights into brain development, cilium biology, and complex disease.

Authors:  Dan Doherty
Journal:  Semin Pediatr Neurol       Date:  2009-09       Impact factor: 1.636

5.  Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Authors:  D Doherty; M A Parisi; L S Finn; M Gunay-Aygun; M Al-Mateen; D Bates; C Clericuzio; H Demir; M Dorschner; A J van Essen; W A Gahl; M Gentile; N T Gorden; A Hikida; D Knutzen; H Ozyurek; I Phelps; P Rosenthal; A Verloes; H Weigand; P F Chance; W B Dobyns; I A Glass
Journal:  J Med Genet       Date:  2009-07-01       Impact factor: 6.318

6.  The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

Authors:  Melissa A Parisi; Craig L Bennett; Melissa L Eckert; William B Dobyns; Joseph G Gleeson; Dennis W W Shaw; Ruth McDonald; Allison Eddy; Phillip F Chance; Ian A Glass
Journal:  Am J Hum Genet       Date:  2004-05-11       Impact factor: 11.025
  6 in total

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