Results 111 to 120 of about 2,625 (156)

Lamotrigine Therapy in Juvenile Neuronal Ceroid Lipofuscinosis [PDF]

Epilepsia, 1999
Summary: Purpose: To evaluate the effects of lamotrigine (LTG) therapy on epileptic seizures and general well‐being in patients with juvenile neuronal ceroid lipofuscinosis (JNCL). Methods: LTG was initiated in 28 patients with JNCL. The mean age of the patients at the initiation of LTG was 13.7 years (range, 6.7–28.2 years).
E Kirveskari, P Santavuori
exaly   +3 more sources

Some of the next articles are maybe not open access.

Related searches:

Juvenile neuronal ceroid lipofuscinosis

The Indian Journal of Pediatrics, 2000
A case of juvenile neuronal ceroid lipofuscinosis (JNCL) diagnosed on the basis of clinical features, electrophysiologic studies and skin electron microscopy is reported. JNCL was suspected on the basis of characteristic symptoms including progressive loss of vision, seizures, mental retardation and motor disabilities.
S, Gulati, R, Maheshwari, M, Kabra, I C, Verma, V, Kalra   +4 more
openaire   +2 more sources

Brain Perfusion SPECT in Juvenile Neuronal Ceroid Lipofuscinosis

Neuropediatrics, 1996
The juvenile neuronal ceroid-lipofuscinosis (JNCL) is a recessively inherited progressive encephalopathy. We studied 21 JNCL patients with a duration of illness of 1 to 17 years by 99mTc-HM-PAO single photon emission computed tomography (SPECT) and correlated the findings with clinical parameters.
Jyrki Launes, P Nikkinen, P Santavuori   +2 more
exaly   +3 more sources

The protracted form of juvenile neuronal ceroid-lipofuscinosis

Acta Neuropathologica, 1976
Clinical and ultrastructural findings consisting of curvilinear and fingerprint residual bodies, in a protracted juvenile form of NCL are reported from a woman who died at the age of 35 years. Homochrony and homotypy of her brother's illness emphasize intrafamilial similarities within subgroups of lysosomal disorders.
H H, Goebel, H, Pilz, F, Gullotta
openaire   +2 more sources

Hyperandrogenism in girls with juvenile neuronal ceroid lipofuscinosis

European Journal of Paediatric Neurology, 2002
Acne and hirsutism are common findings in girls with juvenile neuronal ceroid lipofuscinosis (JNCL). A study on their hormonal status was conducted to investigate the mechanisms underlying these symptoms. Sixteen girls with JNCL entered the study. Ten of the girls had periodic menstruation, while three were given medroxyprogesterone acetate therapy to ...
Laura E, Aberg, Aila, Tiitinen, Taina H, Autti, Leena, Kivisaari, Pirkko, Santavouri   +4 more
openaire   +2 more sources

Linkage analysis in juvenile neuronal ceroid lipofuscinosis

American Journal of Medical Genetics, 1992
AbstractNeuronal ceroid lipofuscinosis (NCL, Batten disease) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, seizures, and retinal degeneration. Several subtypes have been delineated on the basis of age‐at‐onset and histological characteristics; the most common is the juvenile (JNCL) form.
J L, Haines, W L, Yan, R M, Boustany, A, Jewell, C, Julier, X O, Breakefield, J F, Gusella   +6 more
openaire   +2 more sources

Sleep alterations in juvenile neuronal ceroid-lipofuscinosis

Pediatric Neurology, 2000
In juvenile neuronal ceroid-lipofuscinosis (JNCL), sleep disorders are common. The purpose of this study was to investigate the sleep structure of 28 patients with JNCL compared with healthy controls subjects and to clarify the pathophysiology underlying the sleep disturbances in these patients.
E, Kirveskari, M, Partinen, T, Salmi, K, Sainio, T, Telakivi, M, Hämäläinen, A, Larsen, P, Santavuori   +7 more
openaire   +2 more sources

MRI of neuronal ceroid lipofuscinosis

Neuroradiology, 1996
We studied 30 patients with juvenile neuronal ceroid lipofuscinosis (JNCL). The patients (aged 6-25 years) and 43 age-matched healthy volunteers underwent MRI. After visual assessment, the signal intensity was measured on T2-weighted images in numerous locations.
T, Autti, R, Raininko, S L, Vanhanen, P, Santavuori   +3 more
openaire   +2 more sources

Klüver-Bucy Syndrome in Juvenile Neuronal Ceroid Lipofuscinosis

Journal of Child Neurology, 1994
Although Klüver-Bucy syndrome in adults is commonly associated with neurodegenerative conditions, Klüver-Bucy syndrome in children has been recognized almost exclusively in association with acute bitemporal injury or dysfunction. We report a child with juvenile neuronal ceroid lipofuscinosis, who developed dementia, childhood-onset autistic disorder ...
D J, Lanska, M J, Lanska
openaire   +2 more sources