CLN2 disease

General Information (adopted from Orphanet):

Synonyms, Signs: LINCL, INCLUDED
CEROID LIPOFUSCINOSIS, NEURONAL, 2, VARIABLE AGE AT ONSET
JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, INCLUDED
CLN2
Number of Symptoms 13
OrphanetNr: 228349
OMIM Id: 204500
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
Late infantile neuronal ceroid lipofuscinosis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000529) Progressive visual loss 54 / 7739
2
(HPO:0000546) Retinal degeneration 61 / 7739
3
(HPO:0000550) Undetectable electroretinogram 25 / 7739
4
(HPO:0001251) Ataxia 413 / 7739
5
(HPO:0001311) Abnormal nervous system electrophysiology 4 / 7739
6
(HPO:0001336) Myoclonus 115 / 7739
7
(HPO:0001250) Seizures 1245 / 7739
8
(HPO:0000750) Delayed speech and language development 197 / 7739
9
(HPO:0003205) Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 10 / 7739
10
(HPO:0003463) Increased extraneuronal autofluorescent lipopigment 3 / 7739
11
(OMIM) Autofluorescent lipopigment in neurons 11 / 7739
12
(OMIM) Developmental regression after age 2 years 2 / 7739
13
(HPO:0002059) Cerebral atrophy 171 / 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 - Prenatal Diagnosis

MacLeod et al. (1985) reported on the successful prenatal diagnosis of this form of NCL. A fetus was studied by electron microscopy at 16 weeks of gestation because of an affected sib. About ...

Clinical Description OMIM Hassin (1926) reviewed the pathology of late infantile NCL. Seitelberger et al. (1957) collected 28 cases from the world's literature. Some cases reported as LINCL may have been instances of generalized gangliosidosis (Donahue et al., 1967).

...

Genotype-Phenotype Correlations OMIM Steinfeld et al. (2002) described the natural progression of LINCL in 22 German patients with CLN2 mutations, using a scoring system that allowed quantification of the motor, visual, and verbal performances over long periods of time. Sixteen of ...
Molecular genetics OMIM In 2 unrelated patients with LINCL, Sleat et al. (1997) identified mutations in the CLN2 gene (607998.0001 and 607998.0002).

Zhong et al. (1998) screened 16 LINCL probands for 4 previously described CLN2 mutations. The intronic mutation ...

Population genetics OMIM Moore et al. (2008) observed extensive genetic heterogeneity for NCL in Newfoundland. In total, 52 patients from 34 families were identified clinically. Of the 28 families with available DNA, 18 had 5 different mutations in the CLN2 gene ...