Abstract:
:Nusinersen, an antisense oligonucleotide enhancing the production of the survival motor neuron protein, is approved for the treatment of spinal muscular atrophy (SMA) but requires repetitive lumbar punctures. Application via a subcutaneous port connected to a permanent intrathecal catheter has been proposed as an alternative for patients with severe scoliosis, spinal fusion, or comorbidities, rendering serial interlaminar punctures complicated and risky. Since experience with this technique is sparse and follow-up data are lacking, we assessed feasibility, safety, and tolerability of this approach in eight patients with SMA II/SMA III receiving Nusinersen in a multicenter study. Median age at port implantation was 21 years (range: 10-30 years), and median follow-up time thereafter was 19 months (range: 7-24 months). Leakage of the port catheter occurred in two patients, promptly resolving after resuturing. No further complications such as infection, dislocation, kinking, or obstruction of the port were noted in any of the patients. These findings suggest that application via an intrathecal port and catheter system represents a safe and feasible option for Nusinersen treatment in subjects with SMA. However, to detect rare adverse events longer term follow-up in a larger study cohort is warranted.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Flotats-Bastardas M,Hahn A,Schwartz O,Linsler S,Meyer S,Kolodziej M,Koehler Cdoi
10.1055/s-0040-1715481subject
Has Abstractpub_date
2020-12-01 00:00:00pages
401-406issue
6eissn
0174-304Xissn
1439-1899journal_volume
51pub_type
杂志文章相关文献
NEUROPEDIATRICS文献大全abstract::Functional MRI techniques were used to map the position of visual cortex in an awake and a sedated child with congenital anomalies of the posterior hemispheres. In one subject with cortical heterotopia, an activated cortex was found distinct from the structurally abnormal area detected on conventional MRI. In a sedate...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2000-15291
更新日期:2000-02-01 00:00:00
abstract:OBJECTIVE:With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity. PATIENTS AND METHODS:A total of 15 patients with LCC wer...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0033-1364180
更新日期:2014-06-01 00:00:00
abstract::Mutations in the gene for the ganglioside-induced-differentiation-associated-protein 1 on 8q21 were recently reported to cause autosomal recessive Charcot-Marie-Tooth sensorimotor neuropathy. We report a detailed clinical, electrophysiological and genetic study of two young patients harbouring missense GDAP1 mutations...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0028-1085467
更新日期:2008-06-01 00:00:00
abstract::Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain ma...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973503
更新日期:1999-10-01 00:00:00
abstract::Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder, which is caused by partial deletion of the short arm of one chromosome 4. Brain magnetic resonance (MR) imaging findings are lacking. We report on brain findings in 10 children with WHS. We evaluated the MR imaging films of 10 subjects affected by WHS, which h...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-981685
更新日期:2007-02-01 00:00:00
abstract:AIM: Attention deficit with or without hyperactivity (AD[H]D) is a common comorbidity of neurofibromatosis type 1 (NF 1). We tested the hypothesis that permanent medication with methylphenidate can improve cognitive functioning in children with NF 1 and comorbid AD(H)D. PATIENTS AND METHOD: We retrospectively analyzed...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0034-1368117
更新日期:2014-08-01 00:00:00
abstract::A case of acute cerebellar ataxia with discrete signs of pyramidal and tegmental involvement is reported, several days after recovery from an upper respiratory infection of unknown etiology. Magnetic resonance imaging showed transient pontine lesions, disappearing in the convalescence phase. Laboratory tests establish...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071446
更新日期:1991-11-01 00:00:00
abstract::In a retrospective, non-random study, the effect of supplementary medical treatment (Dexamethasone, barbiturates) was investigated upon the prognosis of severe head injuries. Of 107 children and adolescents up to 16 years of age, 51 were treated with Dexamethasone; 56 received only standard therapy. Evaluation of the ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059574
更新日期:1983-08-01 00:00:00
abstract::We report the management of refractory status epilepticus (SE) by using continuous intravenous infusions of lidocaine in a previously healthy 15-year-old girl with a "catastrophic encephalopathy" in whom a diagnosis of febrile infection-related epilepsy syndrome was supposed. One week after a banal pharyngitis and fev...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1389898
更新日期:2015-02-01 00:00:00
abstract::GM1 and GM2 gangliosidoses are progressive neurodegenerative diseases which accumulate intralysosomal gangliosides--and to a lesser extent oligosaccharides--chiefly in the central and peripheral nervous system owing to deficiencies of beta-galactosidase and hexosaminidases A or/and B, respectively. This intralysosomal...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052389
更新日期:1984-09-01 00:00:00
abstract::Observations of extreme unilateral widening of Virchow-Robin spaces (VRS) are rare and hitherto confined to adult, mainly old-aged patients. Magnetic resonance imaging (MRI) was performed in two unrelated boys aged 3 years with developmental coordination disorders. In one of these patients, follow-up MRI and diffusion...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1246158
更新日期:2009-10-01 00:00:00
abstract::Infant botulism is caused by intestinal colonization by Clostridium botulinum, C. barati or C. butyricum. Infant botulism has only rarely been reported outside the USA. A 3-month-old boy developed constipation, lethargy, feeding difficulties and descending, severe, symmetric weakness. He was breastfed but had also bee...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973716
更新日期:1997-10-01 00:00:00
abstract::Careful clinical delineation and advances in analytical methods have opened new possibilities for the detection of inherited neurometabolic disorders, some of which require specific CSF analyses for diagnosis. Although patients suffering from these disorders have recognizable phenotypes, there are strong indications t...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2007-973538
更新日期:1998-04-01 00:00:00
abstract::Congenital glioblastoma multiforme is a rare tumor of the central nervous system with unique features. The existing evidence on its pathogenesis, genetic and molecular profile, special characteristics, treatment, and prognosis is reviewed. An increased number of antenatal diagnoses and prolonged survival for those ind...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1601858
更新日期:2017-12-01 00:00:00
abstract::Seven epileptic patients with permanent ataxic dysfunction following DPH treatment are described. The ataxia correlates with cerebellar atrophy, though the extents of clinical and structural lesions are not necessarily proportional. Cerebellar atrophy is demonstrated by CT scans, the vermal region seems to be predomin...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052345
更新日期:1984-05-01 00:00:00
abstract::Data coming from a prospective multidisciplinary study with repeated examinations of children with fetal alcohol syndrome (FAS) are reported. These patients underwent pediatric, neurological and psychiatric assessment, EEG-recordings and psychological testing. After a period of 3-4 years various subgroups of these chi...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052428
更新日期:1987-02-01 00:00:00
abstract::We report the clinico-pathological findings regarding a 9 year-old girl with some clinical features of Kleine-Levin syndrome who died suddently as a result of pulmonary embolism in the course of femoro-iliac thrombophlebitis. Neuropathological examination provided evidence of perivascular inflammatory infiltrates and ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071559
更新日期:1993-10-01 00:00:00
abstract::We describe 6 unrelated patients affected by infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) with prolonged survival upon mechanical ventilation (4.5-11 years), which has not been reported before. Biallelic mutations in the IGHMBP2 gene proved the diagnosis of SMARD1 in all patients. Diseas...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2004-820994
更新日期:2004-06-01 00:00:00
abstract::The carboxyl terminal of the predicted amino acid sequence of the Batten disease CLN3 gene protein is CQLS. This motif is expected to be a site for farnesylation at the cysteine residue. In order to determine whether this is indeed farnesylated we have carried out the in-vitro prenylation of tetrapeptides CVLS, CAIL a...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973665
更新日期:1997-02-01 00:00:00
abstract::Two children with biotinidase deficiency presented with seizures at 2 months of age. The first child had a fluctuating course with continual developmental progress and cessation of seizures despite symptoms of chronic neurologic dysfunction until he was diagnosed at 17 months. The second child had a progressive course...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071543
更新日期:1993-08-01 00:00:00
abstract::Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and respon...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0028-1128152
更新日期:2008-10-01 00:00:00
abstract::We report the occurrence of subacute sclerosing panencephalitis (SSPE) in two brothers two years after measles infection. The diagnosis was confirmed by compatible data from medical history, occurrence of autochthonic measles virus (MV) IgG production in the central nervous system (CNS), and pathognomonic EEG changes....
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2003-44672
更新日期:2003-12-01 00:00:00
abstract::Over the past few years there has been increasing awareness of the association of congenital choanal atresia (CCA) with other congenital defects, including brain abnormalities. We obtained CT scans of the brain in twenty-three consecutive patients with CCA (10 boys and 13 girls) to determine the prevalence and the sco...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071591
更新日期:1994-04-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype. PATIENTS AND METHODS:Nine pat...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2002-23593
更新日期:2002-02-01 00:00:00
abstract::The present study comprises the neuroradiological examination (computertomography++, magnetic resonance imaging) of 26 children--9 of them were premature, 16 were full-term and in one patient, no details of the pregnancy were known--all suffering from: a) visual disturbance, not caused by ocular disease or afflictions...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052392
更新日期:1988-02-01 00:00:00
abstract:OBJECTIVES:This study aims to evaluate the drawings effectiveness in childhood headache assessment. BACKGROUND:Headache is a common cause of pain in children. Although drawings have been used in childhood to recognize psychological insights and pain perception, they were rarely used for headache characterization. MET...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0035-1550147
更新日期:2015-08-01 00:00:00
abstract::Acute herpes simplex encephalitis (HSE) carries significant morbidity and mortality even after early treatment with antiviral agents (7). As well as causing acute neurological disease, Herpes viruses are associated with relapsing--remitting (Varicella--Zoster, Epstein-Barr) and chronic (Rasmussen encephalitis) disease...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973546
更新日期:1998-06-01 00:00:00
abstract::Etiological factors and long-term prognosis were studied in 562 cases with convulsive disorders in the first year of life; 114 (20.3%) were prenatal, 114 (20.3%) perinatal, 24 (4.3%) postnatal, and 257 cases (45.7%) were cryptogenic. The remaining 53 (9.4%) patients were doubtful cases. The mortality before six years ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059584
更新日期:1983-11-01 00:00:00
abstract:BACKGROUND:Danon disease is caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). MATERIALS AND METHODS:Our study describes a 19-year-old man with isolated hypertrophic cardiomyopathy, in whom we performed DNA analysis and compared results of microscopic analysis of skeletal and cardiac mu...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0033-1336017
更新日期:2013-10-01 00:00:00
abstract::Forty patients suffering from neuronal ceroid lipofuscinosis, 33 of the juvenile type (JNCL) and 7 of the infantile type (INCL), underwent a brain CT. All INCL patients showed severe atrophic changes which were most pronounced supratentorially and in the brainstem. The white matter was hypodense and markedly reduced a...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071470
更新日期:1990-05-01 00:00:00