Literature DB >> 11483403

Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis.

J A Peña1, J J Cardozo, C M Montiel, O M Molina, R Boustany.   

Abstract

Widespread cerebral atrophy and basal ganglia involvement are highly suggestive imaging features of the variants of late infantile type neuronal ceroid-lipofuscinosis. In the presence of clinical findings indicative of neuronal ceroid-lipofuscinosis, neuroimaging procedures are highly recommended to differentiate the variants from classic late infantile neuronal ceroid-lipofuscinosis. The clinical features and follow-up magnetic resonance imaging studies in a patient with the Costa Rican variant of late infantile neuronal ceroid-lipofuscinosis is presented. These procedures were of the utmost importance to observe the progression of the neurologic ailment and the extent of the cerebral and cerebellar abnormalities.

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Year:  2001        PMID: 11483403     DOI: 10.1016/s0887-8994(01)00284-3

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


  7 in total

Review 1.  Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Authors:  Sara E Mole; Ruth E Williams; Hans H Goebel
Journal:  Neurogenetics       Date:  2005-09-28       Impact factor: 2.660

2.  Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

Authors:  Hanlin Gao; Rose-Mary N Boustany; Janice A Espinola; Susan L Cotman; Lakshmi Srinidhi; Kristen Auger Antonellis; Tammy Gillis; Xuebin Qin; Shumei Liu; Leah R Donahue; Roderick T Bronson; Jerry R Faust; Derek Stout; Jonathan L Haines; Terry J Lerner; Marcy E MacDonald
Journal:  Am J Hum Genet       Date:  2001-12-21       Impact factor: 11.025

3.  Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis.

Authors:  Manfred J Oswald; David N Palmer; Graham W Kay; Karen J Barwell; Jonathan D Cooper
Journal:  Neurobiol Dis       Date:  2008-06-25       Impact factor: 5.996

Review 4.  Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.

Authors:  Alessandro Simonati; Ruth E Williams
Journal:  Front Neurol       Date:  2022-03-11       Impact factor: 4.003

Review 5.  Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.

Authors:  Guillermo Guelbert; Ana Clara Venier; Ines Adriana Cismondi; Adriana Becerra; Juan Carlos Vazquez; Elmer Andrés Fernández; Ana Lucía De Paul; Norberto Guelbert; Ines Noher; Favio Pesaola
Journal:  Front Neurol       Date:  2022-08-12       Impact factor: 4.086

6.  Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep.

Authors:  Nicholas Perentos; Amadeu Q Martins; Thomas C Watson; Ullrich Bartsch; Nadia L Mitchell; David N Palmer; Matthew W Jones; A Jennifer Morton
Journal:  Brain       Date:  2015-02-26       Impact factor: 13.501

7.  A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.

Authors:  Guilian Sun; Fang Yao; Zhuoling Tian; Tianjiao Ma; Zhiliang Yang
Journal:  BMC Med Genet       Date:  2018-10-01       Impact factor: 2.103

  7 in total

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