Neuronal ceroid lipofuscinosis: a clinicopathological study

Sinha, Sanjib; Satishchandra, P; Santosh, Vani; Gayatri, NA; Shankar, Susarla Krishna

doi:10.1016/s1059-1311(03)00163-8

Cited by 40 publications

(37 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…On the other hand, in neurodegenerative diseases that additionally involve the cerebral cortex and optic nerves, e.g., neuronal ceroid lipofuscinosis, N-OS that are suggestive of visual pathway dysfunction will also be present. 10 The majority of our patients with neuronal ceroid lipofuscinosis had pale optic discs and poor vision.…”

Section: Discussionmentioning

confidence: 77%

Neuro-Ophthalmological Findings in Children and Adolescents with Chronic Ataxia

Salman

Chodirker

2015

Neuro-Ophthalmology

View full text Add to dashboard Cite

Chronic ataxia is a challenging problem in paediatric neurology. It is caused by a multitude of disorders that at least initially have similar or non-specific phenotype. Some of these disorders have associated neuroophthalmological signs (N-OS). The aims of this study are to describe the N-OS and their frequencies in general and by disease aetiology in paediatric patients with chronic ataxia. The authors identified 184 patients under age 17 years with chronic ataxia (42 months duration or recurrent) during 1991-2008 from multiple sources. Diagnoses and N-OS were ascertained following charts review. Mean age (SD) was 15 (7.7) years. Median duration of follow-up was 6.4 years. There were 214 N-OS in 115 patients (median = 2, range = 1-5 N-OS/ patient). Strabismus was present in 29.3% of patients, nystagmus 27.7%, impaired smooth pursuit 23.4%, hypometric saccades 10.3%, decreased visual acuity 9.2%, abnormal optic discs 8.7%, abnormal pupillary examination 2.7%, hypermetric saccades 2.2%, impaired ductions 1.6%, and abnormal visual fields in 1.1% of patients. N-OS were reported most commonly among patients with the following disorders (commonest N-OS): hypoxic-ischaemic encephalopathy following birth (strabismus), episodic ataxia (nystagmus), neuronal ceroid lipofuscinosis (abnormal optic discs), neuronal migration disorder (strabismus), ischaemic stroke (nystagmus), Joubert syndrome-related disorders (strabismus), leukodystrophy (nystagmus), Friedreich ataxia (hypometric saccades, impaired smooth pursuit, nystagmus), mitochondrial disease (strabismus, nystagmus), ataxia telangiectasia (impaired smooth pursuit), and Angelman syndrome (strabismus). N-OS occur commonly in children with chronic ataxia. Although non-specific, they vary with disease aetiology, potentially aiding in the assessment of these patients.

show abstract

Section: Discussionmentioning

confidence: 77%

Neuro-Ophthalmological Findings in Children and Adolescents with Chronic Ataxia

Salman

Chodirker

2015

Neuro-Ophthalmology

View full text Add to dashboard Cite

show abstract

“…LFB staining can detect lipid accumulation in lysosomes ( Jolly et al, 1992;Mitchison et al, 1999;Sinha et al, 2004;Anzai et al, 2006;Haltia, 2006). When applied to brain sections of untreated Cln3…”

Section: Fig 5 Quantitative Assessment Of Autofluorescence After Aamentioning

confidence: 99%

“…PAS is a classic method for detecting glycogen build up in lysosomes and accumulation of PAS-positive storage material has been demonstrated in JNCL patients ( Jolly et al, 1992;Sinha et al, 2004;Haltia, 2006). When applied to the brains of untreated Cln3…”

Section: Fig 8 Effects Of Aavrh10hcln3 Administration Upon Microglmentioning

confidence: 99%

Partial Correction of the CNS Lysosomal Storage Defect in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis by Neonatal CNS Administration of an Adeno-Associated Virus Serotype rh.10 Vector Expressing the Human CLN3 Gene

et al. 2014

View full text Add to dashboard Cite

Juvenile neuronal ceroid lipofuscinosis ( JNCL or CLN3 disease) is an autosomal recessive lysosomal storage disease resulting from mutations in the CLN3 gene that encodes a lysosomal membrane protein. The disease primarily affects the brain with widespread intralysosomal accumulation of autofluorescent material and fibrillary gliosis, as well as the loss of specific neuronal populations. As an experimental treatment for the CNS manifestations of JNCL, we have developed a serotype rh.10 adeno-associated virus vector expressing the human CLN3 cDNA (AAVrh.10hCLN3). We hypothesized that administration of AAVrh.10hCLN3 to the Cln3 Dex7/8 knock-in mouse model of JNCL would reverse the lysosomal storage defect, as well as have a therapeutic effect on gliosis and neuron loss. Newborn Cln3Dex7/8 mice were administered 3 · 10 10 genome copies of AAVrh.10hCLN3 to the brain, with control groups including untreated Cln3Dex7/8 mice and wild-type littermate mice. After 18 months, CLN3 transgene expression was detected in various locations throughout the brain, particularly in the hippocampus and deep anterior cortical regions. Changes in the CNS neuronal lysosomal accumulation of storage material were assessed by immunodetection of subunit C of ATP synthase, luxol fast blue staining, and periodic acid-Schiff staining. For all parameters, Cln3Dex7/8 mice exhibited abnormal lysosomal accumulation, but AAVrh.10hCLN3 administration resulted in significant reductions in storage material burden. There was also a significant decrease in gliosis in AAVrh.10hCLN3-treated Cln3 Dex7/8 mice, and a trend toward improved neuron counts, compared with their untreated counterparts. These data demonstrate that AAVrh.10 delivery of a wild-type cDNA to the CNS is not harmful and instead provides a partial correction of the neurological lysosomal storage defect of a disease caused by a lysosomal membrane protein, indicating that this may be an effective therapeutic strategy for JNCL and other diseases in this category.

show abstract

“…Son y›llarda ülkemizde görülen ayr› bir flekli tan›mlanm›flt›r (2). Serebral ve serebellar kortekste ve retinada ilerleyici nöronal kay›p hastal›¤›n en önemli bulgusudur (3). Hastal›¤›n klasik geç infantil tipi alt gruplar aras›nda genetik olarak en heterojen tiptir.…”

Section: Giriflunclassified

Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu

Yış¹,

Kurul²,

Özoğul³

et al. 2011

tpa

View full text Add to dashboard Cite

G Ge eç ç i in nf fa an nt ti il l n nö ör ro on na al l s se er ro oi id d l li ip po of fu us si in no oz z: : B Bi ir r o ol lg gu u s su un nu um mu u L La at te e i in nf fa an nt ti il le e n ne eu ur ro on na al l c ce er ro oi id d l li ip po of fu us sc ci in no os si is s: : A A c ca as se e r re ep po or rt t U Ul lu uç ç Y Yi ifl fl, , S Se em mr ra a H H› ›z z K Ku ur ru ul l* *, , C Ca an nd da an n Ö Öz zo o¤ ¤u ul l* ** *, , E Er ra ay y D Di ir ri ik k* *

show abstract

Neuronal ceroid lipofuscinosis: a clinicopathological study

Cited by 40 publications

References 18 publications

Neuro-Ophthalmological Findings in Children and Adolescents with Chronic Ataxia

Neuro-Ophthalmological Findings in Children and Adolescents with Chronic Ataxia

Partial Correction of the CNS Lysosomal Storage Defect in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis by Neonatal CNS Administration of an Adeno-Associated Virus Serotype rh.10 Vector Expressing the Human CLN3 Gene

Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu

Contact Info

Product

Resources

About