title: Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.
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.
authors.affiliation: Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Takano
authors.forename: Tetsu
authors.initials: T
authors.lastname: Nakamoto
authors.forename: Maki
authors.initials: M
authors.lastname: Okajima
authors.forename: Akira
authors.initials: A
authors.lastname: Sudo
authors.forename: Kimiaki
authors.initials: K
authors.lastname: Uetake
authors.forename: Shinji
authors.initials: S
authors.lastname: Saitoh
mesh_terms: D001933:Brain Stem / Q000473:pathology*; D002524:Cerebellar Ataxia / Q000150:complications* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male; D009759:Nystagmus, Pathologic / Q000150:complications* / Q000473:pathology