Results 131 to 140 of about 2,625 (156)

INTERMITTENT PREDNISOLONE AND AUTOANTIBODIES TO GAD65 IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

Neurology, 2008
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a recessively inherited, progressive neurologic disease caused by mutations in the CLN3 gene, coding for a transmembrane protein with unknown function.1 The symptoms include visual failure, noticed around the age of 4 to 7 years, mental decline, epilepsy, parkinsonism, psychiatric symptoms, and sleeping
L, Aberg, M, Talling, T, Härkönen, T, Lönnqvist, M, Knip, R, Alen, H, Rantala, J, Tyynelä   +7 more
openaire   +2 more sources

Cataract and Glaucoma Development in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)

Ophthalmic Genetics, 2014
Ophthalmologic studies of Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) have focused mainly on retinal involvement, and so far no anterior segment abnormalities have been described. In the present study, we report the findings of pre-senile cataract in five patients with JNCL.Our sample consisted of 35 patients (19 males, 16 females) with JNCL ...
Nielsen, Anders K, Drack, Arlene V, Ostergaard, John R   +2 more
openaire   +2 more sources

Juvenile Neuronal Ceroid Lipofuscinosis in a Patient of Iranian Origin

2018
Introduction: Juvenile neuronal ceroid lipofuscinoses (JNCL) is a rare clinical condition especially in Asian population. Case Presentation: We report an 8-year-old female with a history of the progressive deterioration of vision loss, mental retardation, seizures and severe physical disabilities since 3 years before admission.
Karimi, Saeed, Rezaei-moghadam, Mohsen, Mosavi, Seyed Aliasghar   +2 more
openaire   +1 more source

[The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis].

Klinische Monatsblatter fur Augenheilkunde, 2006
Neuronal ceroid lipofuscinoses (NCL) are storage diseases leading to severe somatic and mental deterioration with blindness and death. To date, there are no therapeutic options. Juvenile NCL (JNCL), also known as Batten's disease, is one of the most prevalent forms of NCL.A 6-year-old boy with the primary diagnosis of retinitis pigmentosa was examined.
K, Rüther, A, Gal, A, Kohlschütter
openaire   +1 more source

Protracted juvenile neuronal ceroid‐lipofuscinosis

Journal of Inherited Metabolic Disease, 1993
openaire   +2 more sources

[Juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt disease)].

Klinische Monatsblatter fur Augenheilkunde, 1999
The neuronal ceroid-lipofuscinosis (NCL) belongs to progressive neurodegenerative disorders of childhood with both ophthalmologic and neurologic symptoms. In the most common type in Germany, the juvenile type, the ophthalmological examination is essential for an early diagnosis.A 5-year-old boy had exhibited a loss of visual acuity, visual field and ...
B, Neppert, B, Kemper
openaire   +1 more source

[Juvenile neuronal ceroid lipofuscinosis].

Duodecim; laaketieteellinen aikakauskirja, 1989
P, Santavuori, M, Lappi, C, Raitta, K, Sainio   +3 more
openaire   +1 more source

A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis

Journal of Child Neurology, 2013
Arlene V Drack, Jake N Miller, David A Pearce   +2 more
exaly  

Hippocampal Volumes in Juvenile Neuronal Ceroid Lipofuscinosis: A Longitudinal Magnetic Resonance Imaging Study

Pediatric Neurology, 2014
A Tokola
exaly  

Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis

Journal of Neurochemistry, 2016
Dietmar Kuhl, Guido Hermey
exaly