CLN3 disease

General Information (adopted from Orphanet):

Synonyms, Signs: BATTEN DISEASE
SPIELMEYER-SJOGREN DISEASE
VOGT-SPIELMEYER DISEASE
NEURONAL CEROID LIPOFUSCINOSIS, JUVENILE
CLN3
JNCL
Number of Symptoms 30
OrphanetNr: 228346
OMIM Id: 204200
ICD-10: E75.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Juvenile neuronal ceroid lipofuscinosis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000608) Macular degeneration 36 / 7739
2
(HPO:0000529) Progressive visual loss 54 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0000550) Undetectable electroretinogram 25 / 7739
5
(HPO:0000572) Visual loss 272 / 7739
6
(HPO:0000618) Blindness 124 / 7739
7
(HPO:0000648) Optic atrophy 238 / 7739
8
(HPO:0001260) Dysarthria 329 / 7739
9
(HPO:0000709) Psychosis 61 / 7739
10
(HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
11
(HPO:0002361) Psychomotor deterioration 26 / 7739
12
(HPO:0000726) Dementia 131 / 7739
13
(HPO:0000708) Behavioral abnormality 212 / 7739
14
(HPO:0002505) Progressive inability to walk 2 / 7739
15
(HPO:0001250) Seizures 1245 / 7739
16
(HPO:0001336) Myoclonus 115 / 7739
17
(HPO:0001300) Parkinsonism 75 / 7739
18
(HPO:0000739) Anxiety 67 / 7739
19
(HPO:0001249) Intellectual disability 1089 / 7739
20
(HPO:0001922) Vacuolated lymphocytes 13 / 7739
21
(HPO:0003205) Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 10 / 7739
22
(HPO:0003208) Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 8 / 7739
23
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
(OMIM) Difficulties in school 2 / 7739
25
(OMIM) Autofluorescent lipopigment in neurons 11 / 7739
26
(HPO:0002074) Increased neuronal autofluorescent lipopigment 10 / 7739
27
(HPO:0003463) Increased extraneuronal autofluorescent lipopigment 3 / 7739
28
(HPO:0002059) Cerebral atrophy 171 / 7739
29
(OMIM) Mood disturbances 1 / 7739
30
(HPO:0001317) Abnormality of the cerebellum 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and ...
Diagnosis OMIM Bessman and Baldwin (1962) found imidazole amino aciduria in 5 patients and some of their immediate relatives in 3 unrelated families. They suggested that the finding might be useful for detection of heterozygotes and for identifying heterogeneity in ...
Clinical Description OMIM Batten (1903, 1914) described juvenile-onset of a familial form of 'cerebral degeneration with macular changes.'

Spalton et al. (1980) reviewed 26 patients with Batten disease. Children presented with rapid progressive visual loss at age 6 to ...

Genotype-Phenotype Correlations OMIM Kitzmuller et al. (2008) demonstrated that the common 1.02-kb deletion retains residual function. Overexpression of the mutant CLN3 transcripts consistently caused lysosomes to decrease in size. Studies in mouse cell models and yeast confirmed that the corresponding mutant ...
Molecular genetics OMIM The International Batten Disease Consortium (1995) demonstrated that the mutation responsible for 73% of Batten disease chromosomes was a 1.02-kb deletion in the CLN3 gene (607042.0001). In Finland, 90% of patients with Batten disease carry the 1.02-kb deletion ...
Population genetics OMIM In West Germany, Claussen et al. (1992) estimated the frequency of juvenile-onset CLN3 to be 0.71 per 100,000 live births and of CLN2 to be 0.46 per 100,000 live births. The estimates were based on a novel method ...