Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I

被引：15

作者：

Takano, K

Nakamoto, T

Okajima, M

Sudo, A

Uetake, K

Saitoh, S

机构：

[1] Hokkaido Univ, Sch Med, Dept Pediat, Kita Ku, Sapporo, Hokkaido 0608638, Japan

[2] Obihiro Kosei Hosp, Dept Pediat, Obihiro, Hokkaido, Japan

来源：

PEDIATRIC NEUROLOGY | 2003年 / 28卷 / 02期

关键词：

D O I：

10.1016/S0887-8994(02)00619-7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2003 by Elsevier Inc. All rights reserved.

引用

页码：142 / 144

页数：3

共 14 条

[1] VERMIAN AGENESIS WITHOUT POSTERIOR-FOSSA CYST [J].

ADAMSBAUM, C ;

MOREAU, V ;

BULTEAU, C ;

BURSTYN, J ;

MILAN, FL ;

KALIFA, G .

PEDIATRIC RADIOLOGY, 1994, 24 (08) :543-546

[2] Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis [J].

Betz, R ;

Rensing, C ;

Otto, E ;

Mincheva, A ;

Zehnder, D ;

Lichter, P ;

Hildebrandt, F .

JOURNAL OF PEDIATRICS, 2000, 136 (06) :828-831

[3] Cerebellar vermis hypoplasias with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes [J].

Graber, D ;

Antignac, C ;

Deschenes, G ;

Coulin, A ;

Hermouet, Y ;

Pedespan, JM ;

Fontan, D ;

Ponsot, G .

ARCHIVES DE PEDIATRIE, 2001, 8 (02) :186-190

[4]

Harris CM, 1998, DEV MED CHILD NEUROL, V40, P775

[5] DEVELOPMENT OF THE BRAIN-STEM - ASSESSMENT BY MR IMAGING [J].

HASHIMOTO, T ;

TAYAMA, M ;

MIYAZAKI, M ;

KURODA, Y .

NEUROPEDIATRICS, 1991, 22 (03) :139-146

[6] Molecular genetic identification of families with juvenile nephronophthisis type 1: Rate of progression to renal failure [J].

Hildebrandt, F ;

Strahm, B ;

Nothwang, HG ;

Gretz, N ;

Schnieders, B ;

SinghSawhney, I ;

Kutt, R ;

Vollmer, M ;

Brandis, M ;

Bode, U ;

Brodehl, J ;

Latta, K ;

Brouhard, B ;

Dippel, J ;

Feldhoff, C ;

Wingen, M ;

Filler, G ;

Ghiggeri, GM ;

GuayWoodford, L ;

Hoppe, B ;

Klare, B ;

Kuijten, RH ;

Kuhn, K ;

Leumann, E ;

Neumann, HPH ;

Vossmerbaumer, U ;

Neumayer, HH ;

Rascher, W ;

Scharer, K ;

Stolpe, HJ .

KIDNEY INTERNATIONAL, 1997, 51 (01) :261-269

[7] New insights: nephronophthisis-medullary cystic kidney disease [J].

Hildebrandt, F ;

Omram, H .

PEDIATRIC NEPHROLOGY, 2001, 16 (02) :168-176

[8]

HILDEBRANDT F, 1999, PEDIAT NEPHROLOGY, P453

[9] Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis [J].

Konrad, M ;

Saunier, S ;

Heidet, L ;

Silbermann, F ;

Benessy, F ;

Calado, J ;

LePaslier, D ;

Broyer, M ;

Gubler, MC ;

Antignac, C .

HUMAN MOLECULAR GENETICS, 1996, 5 (03) :367-371

[10] Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13 [J].

Nothwang, HG ;

Stubanus, M ;

Adolphs, J ;

Hanusch, H ;

Vossmerbäumer, U ;

Denich, D ;

Kübler, M ;

Mincheva, A ;

Lichter, P ;

Hildebrandt, F .

GENOMICS, 1998, 47 (02) :276-285

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