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Article: Neuronal ceroid-lipofuscinoses in childhood.

Santavuori, P

1988 Volume 10, Issue 2, Page(s) 80–83

Abstract: Neuronal Childhood types of ceroid-lipofuscinoses (NCL) are reviewed. All three main types, infantile, late infantile and juvenile, are progressive encephalopathies characterized by neural and extraneural accumulation of ceroid- and lipofuscin like ... ...

Abstract	Neuronal Childhood types of ceroid-lipofuscinoses (NCL) are reviewed. All three main types, infantile, late infantile and juvenile, are progressive encephalopathies characterized by neural and extraneural accumulation of ceroid- and lipofuscin like storage cytosomes. The pathogenesis of NCL is unknown. A disturbance of the peroxidation of polyunsaturated fatty acids and a defect in the processing and turn-over of the glycoproteins in the lysosomal membrane are those hypotheses which have been most widely investigated. Reduced membrane lipids and reduced membrane fluidity have recently been detected. Prenatal diagnosis, based on the characteristic ultrastructural findings, is possible in all types.
MeSH term(s)	Brain/pathology ; Brain/physiopathology ; Child ; Child, Preschool ; Humans ; Infant ; Neuronal Ceroid-Lipofuscinoses/classification ; Neuronal Ceroid-Lipofuscinoses/mortality ; Neuronal Ceroid-Lipofuscinoses/physiopathology
Language	English
Publishing date	1988
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	604822-5
ISSN	0387-7604
ISSN	0387-7604
DOI	10.1016/s0387-7604(88)80075-5
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Zs.A 1788: Show issues

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Article: Absence seizures: valproate or ethosuximide?

Santavuori, P

Acta neurologica Scandinavica. Supplementum

1983 Volume 97, Page(s) 41–48

Abstract: A series of 47 children with absence seizures was analysed retrospectively. Fourteen of these children also had other types of seizures, and four had repeated episodes of absence status. The age at onset of absence seizures ranged from 1 1/2 to 13 years ( ...

Abstract	A series of 47 children with absence seizures was analysed retrospectively. Fourteen of these children also had other types of seizures, and four had repeated episodes of absence status. The age at onset of absence seizures ranged from 1 1/2 to 13 years (mean, 7.9 years). The mean follow-up was 5.5 years. Ethosuximide (ESM) was used as the drug of first choice in 43 children, and valproate (VPA) was used first in 4 children; 15 of the patients later received VPA alone or in combination with ESM. A 100% reduction in seizure frequency was achieved in 38 children (80.8%). Of these, 23 has received ESM (21 ESM; 2 ESM + nitrazepam) and 15 had received VPA (6 VPA; 9 VPA + ESM). Of the latter group, 11 children had had an unsuccessful trial of ESM. VPA was superior in the treatment of children who had EEG polyspikes or absence status. A seizure reduction of 50% to 75% was achieved in 7 children (14.9%). Two patients (4.3%) had refractory seizures. A transient Stevens-Johnson syndrome occurred in a patient treated with ESM. Other side effects were mild and transient. Both ESM and VPA are needed in the treatment of absence seizures. In refractory cases, the combination of these drugs appears to be beneficial.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Drug Therapy, Combination ; Electroencephalography ; Epilepsy, Absence/drug therapy ; Ethosuximide/adverse effects ; Ethosuximide/therapeutic use ; Evoked Potentials/drug effects ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Nitrazepam/adverse effects ; Nitrazepam/therapeutic use ; Valproic Acid/adverse effects ; Valproic Acid/therapeutic use
Chemical Substances	Ethosuximide (5SEH9X1D1D) ; Valproic Acid (614OI1Z5WI) ; Nitrazepam (9CLV70W7HS)
Language	English
Publishing date	1983
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	1956-2
ISSN	0065-1427
ISSN	0065-1427
DOI	10.1111/j.1600-0404.1983.tb01534.x
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Article: EEG in the infantile type of so-called neuronal ceroid-lipofuscinosis.

Santavuori, P

Neuropadiatrie

1973 Volume 4, Issue 4, Page(s) 375–387

MeSH term(s)	Acoustic Stimulation ; Age Factors ; Cerebral Cortex/physiopathology ; Child ; Child, Preschool ; Electroencephalography ; Female ; Humans ; Infant ; Lipidoses/physiopathology ; Male ; Occipital Lobe/physiopathology ; Photic Stimulation ; Sleep Stages ; Wakefulness
Language	English
Publishing date	1973-12
Publishing country	Germany
Document type	Journal Article
ZDB-ID	123304-x
ISSN	0028-3797 ; 0077-7811
ISSN	0028-3797 ; 0077-7811
DOI	10.1055/s-0028-1091754
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Article: Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis.

Larsen, A / Sainio, K / Aberg, L / Santavuori, P

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

2001 Volume 5 Suppl A, Page(s) 179–183

Abstract: Fourteen patients with a confirmed diagnosis of juvenile neuronal ceroid lipofuscinosis (JNCL) (aged 6-12.5 years at the beginning of the study) were prospectively followed for 5 years. An electroencephalogram (EEG) was recorded and analysed both ... ...

Abstract	Fourteen patients with a confirmed diagnosis of juvenile neuronal ceroid lipofuscinosis (JNCL) (aged 6-12.5 years at the beginning of the study) were prospectively followed for 5 years. An electroencephalogram (EEG) was recorded and analysed both visually and quantitatively and a neuropsychological examination was performed once a year. In addition, a cross-sectional EEG study of 32 patients aged 5-27 years was performed. The EEG was often normal before the age of 9 years, and thereafter a progressive background abnormality and increase in paroxysmal activity took place. The EEGs were significantly slower than those of the controls, and the speed of slowing of EEG correlated to the decrease in intelligence quotients (IQ). Quantitative analysis was superior to visual analysis in detecting the deterioration of the background activity. The best parameter describing this was the fast/slow ratio. Peak frequency, percentage of theta and the fast/slow ratio correlated with IQ.
MeSH term(s)	Adolescent ; Adult ; Child ; Cross-Sectional Studies ; Electroencephalography ; Follow-Up Studies ; Humans ; Intelligence Tests ; Neuronal Ceroid-Lipofuscinoses/diagnosis ; Prospective Studies
Language	English
Publishing date	2001-12-05
Publishing country	England
Document type	Clinical Trial ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1397146-3
ISSN	1090-3798
ISSN	1090-3798
DOI	10.1053/ejpn.2000.0458
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Zs.A 4867: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article: Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders.

Santavuori, P / Vanhanen, S L / Autti, T

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

2001 Volume 5 Suppl A, Page(s) 157–161

Abstract: Early diagnosis is mandatory for avoiding further cases in families with hereditary metabolic brain disorders. This review lists the most important clinical symptoms and neuroradiological findings at the early stage of the seven most common childhood ... ...

Abstract	Early diagnosis is mandatory for avoiding further cases in families with hereditary metabolic brain disorders. This review lists the most important clinical symptoms and neuroradiological findings at the early stage of the seven most common childhood neuronal ceroid lipofuscinoses (NCL) types. In the infantile type the typical magnetic resonance imaging (MRI) findings can be seen even before the clinical signs. In the classic late infantile type (CLN2), MRI is less informative but in this and in the variant late infantile type CLN6 the characteristic neurophysiological findings are present at an early stage, although not in the Finnish variant CLN5. In the latter, the clinical diagnosis depends on ophthalmological and MRI findings. The combination of ophthalmological deficits and vacuolated lymphocytes is highly characteristic of the juvenile type (CLN3). A new NCL type, Northern epilepsy (CLN8), is also briefly reviewed.
MeSH term(s)	Child ; Child, Preschool ; Humans ; Infant ; Magnetic Resonance Imaging ; Neuronal Ceroid-Lipofuscinoses/diagnostic imaging ; Radiography
Language	English
Publishing date	2001-12-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1397146-3
ISSN	1090-3798
ISSN	1090-3798
DOI	10.1053/ejpn.2000.0454
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Article: Hereditary and acquired risk factors for childhood stroke.

Riikonen, R / Santavuori, P

Neuropediatrics

1994 Volume 25, Issue 5, Page(s) 227–233

Abstract: Forty-four patients aged from one month to 16 years suffering from arterial stroke were carefully studied for any hereditary and acquired risk factors for stroke. No physiologic anticoagulant deficiency or antiphospholipid syndrome was found. Two ... ...

Abstract	Forty-four patients aged from one month to 16 years suffering from arterial stroke were carefully studied for any hereditary and acquired risk factors for stroke. No physiologic anticoagulant deficiency or antiphospholipid syndrome was found. Two patients had mitochondrial disease (MELAS). Six patients had migraineous stroke. Migraine and thrombotic disease in the families of the patients were not more prevalent than in the families of the controls. Preceding infections occurred in 34% of the patients, that is, significantly more common than in the age-matched controls. Two children had borreliosis. Repeat strokes occurred particularly in patients with migraine (n = 4) and MELAS (n = 2). The hereditary factors studied here seem to play only a minor role in pediatric patients. Repeated strokes have a varied etiology and are difficult to prevent. Important triggers of strokes are infections.
MeSH term(s)	Adolescent ; Case-Control Studies ; Cerebrovascular Disorders/epidemiology ; Cerebrovascular Disorders/etiology ; Cerebrovascular Disorders/genetics ; Chi-Square Distribution ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infection/complications ; MELAS Syndrome/complications ; Male ; Migraine Disorders/complications ; Recurrence ; Risk Factors
Language	English
Publishing date	1994-10
Publishing country	Germany
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/s-2008-1073026
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Article: Sleep and its disturbance in a variant form of late infantile neuronal ceroid lipofuscinosis (CLN5).

Kirveskari, E / Partinen, M / Santavuori, P

Journal of child neurology

2001 Volume 16, Issue 10, Page(s) 707–713

Abstract: To examine the nature of sleep disturbance in patients with a variant form of late infantile neuronal ceroid lipofuscinosis (CLN5), we studied 12 patients (age range 7-32 years). We used a sleep questionnaire to assess sleep and its disturbances ... ...

Abstract	To examine the nature of sleep disturbance in patients with a variant form of late infantile neuronal ceroid lipofuscinosis (CLN5), we studied 12 patients (age range 7-32 years). We used a sleep questionnaire to assess sleep and its disturbances quantitatively. To identify the periodicity in the diurnal rest-activity rhythms, the motor activity level was recorded by activity monitors continuously for a 1-week period with concomitant sleep logs. In addition, whole-night polysomnographic recordings were performed. The patients under 20 years of age had an excess of nocturnal sleep (the mean of the usual duration of nighttime sleep was 10.0 hours) and frequent daytime naps. Frequent shifts of the longest sleep period into the daytime hours and fragmented diurnal rest-activity patterns with no distinct rhythm occurred in the older patients. The progressive disease may damage the internal circadian timing system and also impair the ability of patients with variant late infantile neuronal ceroid lipofuscinosis to use external time cues for synchronization of their sleep and environmental time.
MeSH term(s)	Adolescent ; Adult ; Child ; Disorders of Excessive Somnolence/diagnosis ; Disorders of Excessive Somnolence/genetics ; Female ; Humans ; Lysosomal Membrane Proteins ; Male ; Membrane Proteins/genetics ; Neuronal Ceroid-Lipofuscinoses/diagnosis ; Neuronal Ceroid-Lipofuscinoses/genetics ; Sleep Disorders, Circadian Rhythm/diagnosis ; Sleep Disorders, Circadian Rhythm/genetics ; Sleep Disorders, Intrinsic/diagnosis ; Sleep Disorders, Intrinsic/genetics
Chemical Substances	CLN5 protein, human ; Lysosomal Membrane Proteins ; Membrane Proteins
Language	English
Publishing date	2001-10-18
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	639288-x
ISSN	1708-8283 ; 0883-0738
ISSN (online)	1708-8283
ISSN	0883-0738
DOI	10.1177/088307380101601001
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Zs.A 2301: Show issues

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Article: Studies of homogenous populations: CLN5 and CLN8.

Ranta, S / Savukoski, M / Santavuori, P / Haltia, M

Advances in genetics

2001 Volume 45, Page(s) 123–140

Abstract: Finland and the Finns have been the subject of numerous genetic and genealogical studies, owing to enrichment of certain rare hereditary disorders in the Finnish population. Two types of NCL have so-far been found almost exclusively in Finland: Finnish ... ...

Abstract	Finland and the Finns have been the subject of numerous genetic and genealogical studies, owing to enrichment of certain rare hereditary disorders in the Finnish population. Two types of NCL have so-far been found almost exclusively in Finland: Finnish variant late infantile NCL, vLINCL (CLN5), and the Northern epilepsy syndrome or Progressive epilepsy with mental retardation, EPMR (CLN8). The first symptoms of Finnish vLINCL are concentration problems or motor clumsiness by 3 to 6 years of age, followed by mental retardation, visual failure, ataxia, myoclonus, and epilepsy. Northern epilepsy, the newest member of the NCL family with the most protracted course, is characterized by the onset of generalized seizures between 5 and 10 years of age and subsequent progressive mental retardation. Visual problems are slight and late, while myoclonus has not been observed. Both the Finnish vLINCL and Northern epilepsy are pathologically characterized by intraneuronal cytoplasmic deposits of autofluorescent granules which are Luxol fast blue-, PAS-, and Sudan black B-positive in paraffin sections. In Northern epilepsy the intraneuronal storage process and neuronal destruction are generally of mild degree but highly selective and, in contrast to other forms of childhood onset NCL, the cerebellar cortex is relatively spared. By electron microscopy the storage bodies mainly contain rectilinear complex type and fingerprint profiles in Finnish vLINCL and structures resembling curvilinear profiles in Northern epilepsy. Mitochondrial ATP synthase subunit c is the main stored protein in both disorders. Both the DCLN5 and CLN8 genes encode putative membrane proteins with yet unknown functions. Furthermore, a well studied spontaneously occurring autosomal recessive mouse mutant, motor neuron degeneration (mnd) mouse, is a homolog for CLN8.
MeSH term(s)	Animals ; Epilepsy/genetics ; Finland ; Humans ; Lysosomal Membrane Proteins ; Membrane Proteins/biosynthesis ; Membrane Proteins/genetics ; Mice ; Neuronal Ceroid-Lipofuscinoses/diagnosis ; Neuronal Ceroid-Lipofuscinoses/genetics
Chemical Substances	CLN5 protein, human ; CLN8 protein, human ; Cln8 protein, mouse ; Lysosomal Membrane Proteins ; Membrane Proteins
Language	English
Publishing date	2001-04-30
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	148-x
ISSN	0065-2660
ISSN	0065-2660
DOI	10.1016/s0065-2660(01)45007-3
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Article: Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis.

Bäckman, M L / Santavuori, P R / Aberg, L E / Aronen, E T

Journal of intellectual disability research : JIDR

2005 Volume 49, Issue Pt 1, Page(s) 25–32

Abstract: Background: Juvenile neuronal ceroid lipofuscinosis (JNCL) is one of the most common neurodegenerative disorders in childhood and adolescence. The clinical picture includes diverse and complex psychiatric symptoms that are difficult to treat. Only ... ...

Abstract	Background: Juvenile neuronal ceroid lipofuscinosis (JNCL) is one of the most common neurodegenerative disorders in childhood and adolescence. The clinical picture includes diverse and complex psychiatric symptoms that are difficult to treat. Only symptomatic treatment is available. To improve symptomatic therapy, it is important to recognize the symptoms. The purpose of this study was to identify predominant psychiatric symptoms in patients with JNCL. Methods: The study included 27 patients with JNCL with and without psychotropic treatment. The mean age was 15.2 (range 9-21) years. Characteristic psychiatric symptoms in this patient group were clarified by using the following standardized questionnaires filled in by parents, teachers and the patients themselves: Child Behavior Checklist (CBCL), Teacher Report Form (TRF) and Children's Depression Inventory (CDI). The symptoms were recorded for the entire study group and compared between patients with and without psychotropic treatment and between genders. Results: The patients had a large number of psychiatric symptoms according to the CBCL and TRF. The most commonly reported symptoms were social, thought, attention problems, somatic complaints and aggressive behaviour. Patients receiving psychotropic medication had more psychiatric symptoms according to the CBCL and TRF. Moreover, female patients had more problems than male patients according to the CBCL. The total psychiatric symptom score was at clinical or borderline range for psychiatric disturbance in 74% of patients. The number of depressive symptoms reported by the patients themselves was low. Conclusions: JNCL patients suffer from a multitude of psychiatric symptoms. To improve drug choice and dosage, a thorough evaluation of these symptoms by standardized methods is needed before initiating treatment. Progress and possible adverse effects of treatment should be monitored on a regular basis.
MeSH term(s)	Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Mental Disorders/diagnosis ; Mental Disorders/drug therapy ; Mental Disorders/epidemiology ; Neuronal Ceroid-Lipofuscinoses/epidemiology ; Neuronal Ceroid-Lipofuscinoses/physiopathology ; Neuronal Ceroid-Lipofuscinoses/psychology ; Observer Variation ; Psychiatric Status Rating Scales ; Psychotropic Drugs/therapeutic use ; Severity of Illness Index ; Surveys and Questionnaires
Chemical Substances	Psychotropic Drugs
Language	English
Publishing date	2005-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1103832-9
ISSN	1365-2788 ; 0964-2633
ISSN (online)	1365-2788
ISSN	0964-2633
DOI	10.1111/j.1365-2788.2005.00659.x
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Article: Batten-Spielmeyer-Vogtin tauti.

Santavuori, P

Duodecim; laaketieteellinen aikakauskirja

1972 Volume 88, Issue 1, Page(s) 35–39

Title translation	Batten-Spielmeyer-Vogt's disease.
MeSH term(s)	Adolescent ; Adult ; Brain/pathology ; Child ; Child, Preschool ; Cytoplasm ; Electroretinography ; Female ; Humans ; Lipidoses ; Lymphocyte Activation ; Male ; Neurologic Manifestations ; Retina/pathology ; Retinitis Pigmentosa/etiology ; Vision Disorders/etiology
Language	Finnish
Publishing date	1972
Publishing country	Finland
Document type	Journal Article
ZDB-ID	127604-9
ISSN	0012-7183
ISSN	0012-7183
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