Document Detail


Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy.
MedLine Citation:
PMID:  12548734     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pontocerebellar hypoplasia (PCH) is rarely associated with anterior horn cell disease and designated as PCH-1. This phenotype is characterized by severe muscle weakness and hypotonia starting prenatally or at birth with a life span not exceeding a few months in most cases. Milder disease courses with later onset and longer survival are normally not diagnosed as PCH-1. We describe the clinical and neuroradiological findings in nine patients out of six siblingships with evidence of cerebellar defects and early onset spinal muscular atrophy (SMA), representing a broad spectrum of clinical variability. In all patients, the diagnosis of SMA (Werdnig-Hoffmann disease) was made on the basis of electrophysiological data and muscle biopsy; however, genetic testing failed to confirm the diagnosis of infantile SMA with a gene defect on chromosome 5q and resulted in clinical reevaluation. Age at onset was after a normal period in the first months of life in three siblingships and pre- and postnatally in the other three families. Life span was 2-4 years in patients with later onset, and age at death occurred after birth or within months in the more severe group. Two siblingships showed discordant ages at death despite similar treatment. In contrast to the previous definition of PCH-1, our observations suggest the existence of milder phenotypes with pontocerebellar hypoplasia or olivopontocerebellar atrophy in combination with anterior horn cell loss. A pontine involvement is not necessarily seen by neuroimaging methods. The genetic basis of PCH-1 remains to be determined. The gene locus for infantile SMA on chromosome 5q could be excluded by linkage studies. Parental consanguinity and affected siblings make autosomal recessive inheritance most likely.
Authors:
Sabine Rudnik-Schöneborn; László Sztriha; Gururaj R Aithala; Gunnar Houge; Liv M Laegreid; Jürgen Seeger; Michael Huppke; Brunhilde Wirth; Klaus Zerres
Related Documents :
7533534 - Expression of cellular fibronectin and tenascin in the rabbit cornea after excimer lase...
14561664 - Genetic variation of infant reduced folate carrier (a80g) and risk of orofacial and con...
11603954 - Weight of evidence for an association between adverse reproductive and developmental ef...
16042804 - Cardiac conduction abnormalities and congenital immunodeficiency in a child with kabuki...
16400214 - One year audit of perinatal mortality at kathmandu medical college hospital.
24924224 - The role of folic acid in fetal programming of birth phenotypes and early human develop...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  117A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Feb 
Date Detail:
Created Date:  2003-01-27     Completed Date:  2003-05-20     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  10-7     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Affiliation:
Institute for Human Genetics, Aachen University, Aachen, Germany. srudnik-schoeneborn@ukaachen.de
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology*
Cerebellum / pathology
Child, Preschool
Family Health
Female
Humans
Infant
Magnetic Resonance Imaging
Male
Muscular Atrophy, Spinal / pathology*
Olivopontocerebellar Atrophies / pathology*
Phenotype

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Female carriers of fragile X premutations have no increased risk for additional diseases other than ...
Next Document:  Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curs...