Abstract:
:The infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation of autofluorescent material in many cell types, particularly neurons of the central nervous system. Clinical signs of infantile neuronal ceroid lipofuscinosis appear between 6 months and 1 year of age and include vision loss, cognitive decline, motor deficits, seizures, and premature death, typically by 3 to 5 years of age. There is currently no effective treatment. However, preclinical experiments in the murine model of infantile neuronal ceroid lipofuscinosis have shown that gene therapy, enzyme replacement, stem cell transplantation, and small-molecule drugs, alone or in combination, can significantly slow disease progression. A more thorough understanding of the underlying pathogenesis of infantile neuronal ceroid lipofuscinosis will identify new therapeutic targets.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Sands MSdoi
10.1177/0883073813495960subject
Has Abstractpub_date
2013-09-01 00:00:00pages
1151-8issue
9eissn
0883-0738issn
1708-8283pii
28/9/1151journal_volume
28pub_type
杂志文章abstract::A suppository for rectal administration of carbamazepine has been developed for situations in which it is unsuitable to use the oral route of administration. In an open, controlled, within-patient study, the pharmacokinetics, clinical efficacy, and tolerability of carbamazepine slow-release tablets were compared with ...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/088307389501000209
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abstract:OBJECTIVE:To analyze the available literature on papilledema in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), report the first detailed pediatric case, and explore the underlying pathophysiology. METHODS:First, we conducted a comprehensive literature review of all cases of papilledema in CIDP. Next...
journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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doi:10.1177/088307389300800311
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abstract::Neuromyelitis optica is a rare, severe idiopathic disease that predominantly involves optic nerves and spinal cord. Main clinical features of neuromyelitis optica are visual loss, paraparesis or tetraparesis, sensory loss, and sphincter dysfunction. A 13-year-old girl with vision loss and behavioral change was admitte...
journal_title:Journal of child neurology
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abstract::To evaluate the effect of early treatment of congenital hypothyroidism on central nervous system development, auditory brainstem evoked potentials were determined in 32 patients with hyperthyrotropinemia diagnosed during neonatal screening. The patients included 27 with congenital hypothyroidism and 5 with transient h...
journal_title:Journal of child neurology
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abstract::Facioscapulohumeral muscular dystrophy is one of the most prevalent muscular dystrophies in the world, resulting from the deletion of tandem repeats on chromosome 4q35. Extramuscular associations include sensorineural hearing loss, mental retardation, and epilepsy. These manifestations are commonly found in those with...
journal_title:Journal of child neurology
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abstract::Vigabatrin has been studied in adult drug-resistant epilepsy since 1982 in single-blind and double-blind studies followed by long-term, open evaluations. These studies have provided evidence that vigabatrin is a potent and well-tolerated antiepileptic drug and support its potential value in pediatric epilepsy. The lac...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
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更新日期:1991-01-01 00:00:00
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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abstract:OBJECTIVE:We present the diagnostic and clinical course of the first multicenter case series of pediatric patients with autoimmune encephalitis associated with N-type voltage-gated calcium channel antibodies. METHODS:Data from 2 university hospitals were retrospectively reviewed and records of 3 patients with autoimmu...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/0883073819840448
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journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
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更新日期:2014-07-01 00:00:00
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doi:10.1177/0883073811435240
更新日期:2012-10-01 00:00:00
abstract::Levetiracetam, one of the newer-generation antiepilepsy drugs, is not currently approved for use in children. Given its favorable efficacy, pharmacokinetic, and, particularly, safety profile in adults, we felt that it may be a useful antiepilepsy drug for children with refractory epilepsy. We treated 39 patients (mean...
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pub_type: 临床试验,杂志文章
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更新日期:1991-01-01 00:00:00
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journal_title:Journal of child neurology
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doi:10.1177/0883073811431109
更新日期:2012-08-01 00:00:00
abstract::The authors conducted this study to identify whether bacille Calmette-Guérin (BCG) vaccination leads to an altered spectrum of neuroimaging findings outcome in pediatric patients with tuberculous meningitis. This retrospective study was conducted through chart review and review of computed tomography (CT) scans and ma...
journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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