Disease Information for Juvenile ceroid lipofuscinosis/Batten-M

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Clinical Manifestations
Signs & Symptoms
Ataxia
Babinski's upgoing toes/bilateral
Dystonia
Dystonia, acquired
Idiocy/signs
Infant Seizures
Mental Deficiency Child
Mental Slowing Deteriation
Mental/motor retardation in children/signs
Motor slowing
Myoclonus/Myoclonic jerks on exam
Neurological symptoms/signs
Odd body posturing
Progressive neurological disorder/signs
Rapidly progressive dementia
Regressing neuromotor/skills child/signs
Seizures/Children/recurrent
Staggering Gait
Tonic posture/stiffening
Psychomotor retardation
Walking difficulties
Bilateral Vision Loss
Central Vision Loss/Scotoma
Cherry red spot/retinal sign
Eye symptoms/signs
Vision Loss
Visual Problems
Clinical Presentation & Variations
Presentation/Progressive dementia Child Infant
Presents/Myoclonus Epilepsy Mental Decline <20
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive
Course/Relentless
Onset/age 5
Onset/Before puberty
Onset/Childhood
Demographics & Risk Factors
Ethnic or Racial Factors
Ashkenasi Jewish population
Danish population
Finnish population
Middle Eastern Population
Northern European population/extraction
Norwegian population
Scandinavian population
Swedish population
Population Group
Child
Population/Pediatrics population
Family History
Family history/Parental consanguinity
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Old child
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
URINE Dolichol increased
Diagnostic Test Results
Pathology
BX/Skin biopsy/Abnormal
BX/Skin/Electromicroscopy abnormal
PATH/Neuronal ceroid lipofuscinosis
Electrodiagnosis
EEG/Evoked Potential Responses Abnormal
EEG/Visual evoked response/abnormality
Electroretinogram abnormal
CT Scan
MRI/Head Grey matter degeneration
Associated Diseases & Rule outs
Rule Outs
Ataxia-telangiectasia
Associated Disease & Complications
Aminoaciduria
Blindness
Blindness in Children
Blindness, central
Dementia
Developmental neurologic degeneration/child
Juvenile ceroid lipofuscinosis syndrome/Batten-M.
Mental retardation
Neurodevelopmental disorders
Visual acuity loss
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Adult variant disease milder
Pathophysiology/Gene locus 16p12.1
Pathophysiology/Gene locus Chromosome 16
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/CNS degeneration
Pathophysiology/Developmental degeneration CNS
Pathophysiology/Ganglioside accumulation brain
Pathophysiology/Neurologic degenerative disorder (ex)
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Ceroid Lipofuscinoses (ex)
PROCESS/Developmental/delayed expression disorder (ex)
PROCESS/Ethnic predilection (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
PROCESS/Two/multiple subsets/disease pattern
PROCESS/Cerebral lipidoses (ex)
PROCESS/Storage disorder/brain (ex)
Synonyms
Synonym
Amaurotic idiocy juvenile type, BATTEN DIS, BATTEN DISEASE, BATTEN MAYOU DIS, Batten Mayou Disease, Batten Mayou syndrome, BATTEN SPIELMEYER VOGT DIS, Batten Spielmeyer Vogt Disease, Batten's disease, Batten's syndrome, Cerebral lipidosis myoclon var, Cerebral lipidosis myoclonic variant, Cerebroretinal Degeneration Juvenile, Cerebroretinal Degenerations Juvenile, CEROID LIPOFUSCINOSIS NEURONAL 3, CLN3, Degeneration Juvenile Cerebroretinal, Degenerations Juvenile Cerebroretinal, Disease Batten, Disease Spielmeyer Vogt, JNCL, Juv neur ceroid lipofuscinosis, Juvenile Cerebroretinal Degeneration, Juvenile Cerebroretinal Degenerations, Juvenile Neuronal Ceroid Lipfuscinosis, Juvenile neuronal ceroid lipofuscinosis, Juvenile neuronal ceroid lipofuscinosis (disorder), Neuronal Ceroid Lipfuscinosis Juvenile, NEURONAL CEROID LIPOFUSCINOSIS JUVENILE, Neuronal lipofuscinosis juvenile, Neuronal lipofuscinosis late juvenile, SPIELMEYER SJOGREN DISEASE, Spielmeyer Vogt, SPIELMEYER VOGT DIS, Spielmeyer Vogt Disease, Spielmeyer Vogt neur cer lipof, Spielmeyer Vogt type neuronal ceroid lipofuscinosis, Vogt Spielmeyer, Vogt Spielmeyer disease, Early Onset Ataxia/Children, Synonym/Amaurotic familial idiocy/juvenile/Batten, Synonym/Batten syndrome, Synonym/Batten-Mayou syndrome, Synonym/Batten-Mayou-Speilmeyer-Vogy syndr, Synonym/Batten's disease, Synonym/Batten-Spielmeyer-Vogt's disease, Synonym/Batten-Vogt syndrome, Synonym/NCL juvenile, Synonym/Neuronal ceroid lipofuscinosis, Synonym/Neuronal ceroid lipofuscinosis type 1, Synonym/Spielmeyer-Vogt disease, Synonym/Spielmeyer-Vogt-Batten disease, Synonym/Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock disease, Synonym/Stengel's syndrome
Treatment
Drug Therapy - Indication
RX/No effective/definitive treatment yet available
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition

Batten Disease; Batten-Mayou Syndrome; Batten-Spielmeyer-Vogt"s Disease; Batten-Vogt Syndrome; Neuronal Ceroid Lipofuscinosis, Juvenile Type; Spielmeyer-Vogt Disease;

Spielmeyer-Vogt-Batten Syndrome; Stengel"s Syndrome;

Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock Disease;

Batten disease is the juvenile form of a group of progressive neurological diseases known as neuronal ceroid lipofuscinoses (NCL);It is characterized by accumulation of a fatty substance (lipopigment) in the brain as well as in tissue that does not contain nerve cells; This lipopigment storage disorder is inherited, and is marked by rapidly progressive vision failure (optic atrophy), and neurological disturbances, which may begin before eight years of age; Occurring mostly in families of Northern European Scandinavian ancestry, the disorder affects the brain and may cause both deterioration of intellect and neurological functions.[NORD 2005]--------------------------------------

AKA Curschmann-Batten-Steinert syndrome;Batten-Gibb syndrome;Batten-Steinert syndrome; Curschmann-Batten syndrome;Curschmann-Steinert syndrome;

Curschmann-Steinert-Batten disease;

Rossolimo-Curschmann-Batten-Steinert myotinic dystrophy

Rossolimo-Curschmann-Batten-Steinert syndrome;

Steinert’s disease; Steinert’s myotonic dystrophy

both homozygotes and heterozygotes can be identified on the basis of metachromasia in skin fibroblasts in cell culture; y polyacrylamide gel electrophoresis neuronal ceroid lipofuscinoses correct diagnosis of disease type requires ultrastructural examination of a patient"s cells; NCL is characterized by fingerprint profiles, with or without curvilinear profiles; Prenatal Diagnosis some used PCR to identify the intragenic microsatellite marker D16S298 to make the prenatal diagnosis of Batten disease on the basis of a chorionic villus sample. [OMIM/NIH 2005]

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External Links Related to Juvenile ceroid lipofuscinosis/Batten-M
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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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