CLN1 disease

General Information (adopted from Orphanet):

Synonyms, Signs: CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE, INCLUDED
SANTAVUORI DISEASE, INCLUDED
SANTAVUORI-HALTIA DISEASE, INCLUDED
INCL, INCLUDED
CLN1
Number of Symptoms 43
OrphanetNr: 228329
OMIM Id: 256730
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: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Adult neuronal ceroid lipofuscinosis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Infantile neuronal ceroid lipofuscinosis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
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:0005484) Postnatal microcephaly 32 / 7739
2
 (HPO:0000253) Progressive microcephaly 37 / 7739
3
 (HPO:0000608) Macular degeneration 36 / 7739
4
 (HPO:0000618) Blindness 124 / 7739
5
 (HPO:0000546) Retinal degeneration 61 / 7739
6
 (HPO:0000648) Optic atrophy 238 / 7739
7
 (HPO:0000550) Undetectable electroretinogram 25 / 7739
8
 (HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
9
 (HPO:0000529) Progressive visual loss 54 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0001336) Myoclonus 115 / 7739
12
 (HPO:0002353) EEG abnormality 188 / 7739
13
 (HPO:0000738) Hallucinations 60 / 7739
14
 (HPO:0001257) Spasticity 251 / 7739
15
 (HPO:0001249) Intellectual disability 1089 / 7739
16
 (HPO:0001250) Seizures 1245 / 7739
17
 (HPO:0002371) Loss of speech 15 / 7739
18
 (HPO:0002360) Sleep disturbance 113 / 7739
19
 (HPO:0000716) Depression 99 / 7739
20
 (HPO:0001251) Ataxia 413 / 7739
21
 (HPO:0002361) Psychomotor deterioration 26 / 7739
22
 (HPO:0000737) Irritability 93 / 7739
23
 (HPO:0001371) Flexion contracture 220 / 7739
24
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
25
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
26
 (HPO:0001252) Muscular hypotonia 990 / 7739
27
 (HPO:0010547) Muscle flaccidity 466 / 7739
28
 (HPO:0001324) Muscle weakness 859 / 7739
29
 (OMIM) MRI shows high signal intensity of the white matter later 1 / 7739
30
 (OMIM) Cerebral atrophy, progressive 4 / 7739
31
 (HPO:0002059) Cerebral atrophy 171 / 7739
32
 (OMIM) Blindness by age 2 1 / 7739
33
 (OMIM) Autofluorescent lipopigment in neurons 11 / 7739
34
 (OMIM) Cognitive decline in older patients 1 / 7739
35
 (OMIM) MRI shows hypointensity of the thalami early-on 1 / 7739
36
 (OMIM) Hyperexcitability 2 / 7739
37
 (OMIM) Decreased activity of PPT1 1 / 7739
38
 (OMIM) Fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid 1 / 7739
39
 (OMIM) Granular osmiophilic cytoplasmic deposits (GROD) ultrastructurally in cells 2 / 7739
40
 (HPO:0002074) Increased neuronal autofluorescent lipopigment 10 / 7739
41
 (HPO:0003674) Onset 32 / 7739
42
 (OMIM) Granular material in neurons 1 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 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 lipopigment pattern seen most often in CLN1 ...
Diagnosis OMIM Voznyi et al. (1999) reported a new fluorimetric assay for PPT activity based on the fluorochrome 4-methylumbelliferone. PPT1 activity was detectable in fibroblasts, leukocytes, lymphoblasts, amniotic fluid cells, and chorionic villi, but was deficient in tissues from CLN1 ...
Clinical Description OMIM - Classic Infantile-Onset CLN1

Hagberg et al. (1968) described 'progressive encephalopathy' in a child of unrelated Finnish parents. The disorder was characterized by mental retardation, loss of speech, minor motor seizures, regression of motor development, and ...
Molecular genetics OMIM By positional candidate gene methods, Vesa et al. (1995) identified a homozygous mutation (R122W; 600722.0001) in the PPT1 gene in patients with infantile-onset CLN1 from 40 of 42 Finnish families. The findings were consistent with a founder effect. ...