CLN13 disease

General Information (adopted from Orphanet):

Synonyms, Signs: CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE
CLN13
Number of Symptoms 17
OrphanetNr: 352709
OMIM Id: 615362
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: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0001250) Seizures 1245 / 7739
2
 (HPO:0001268) Mental deterioration 88 / 7739
3
 (HPO:0001251) Ataxia 413 / 7739
4
 (HPO:0000716) Depression 99 / 7739
5
 (HPO:0000712) Emotional lability 44 / 7739
6
 (HPO:0001337) Tremor 200 / 7739
7
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
8
 (HPO:0000726) Dementia 131 / 7739
9
 (HPO:0001260) Dysarthria 329 / 7739
10
 (HPO:0003581) Adult onset 117 / 7739
11
 (OMIM) Accumulation of autofluorescent material in neurons 1 / 7739
12
 (HPO:0003676) Progressive disorder 148 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
15
 (HPO:0002506) Diffuse cerebral atrophy 9 / 7739
16
 (OMIM) Motor abnormalities 1 / 7739
17
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material ...
Clinical Description OMIM Smith et al. (2013) reported 2 Italian sibs, born of unrelated parents, with adult onset of CLN. At age 20 years, the proband developed a progressive cerebellar syndrome manifest as tremor, ataxia, and dysarthria. She later developed tonic-clonic ...
Molecular genetics OMIM In affected members of 2 unrelated families with Kufs disease, Smith et al. (2013) identified homozygous or compound heterozygous mutations in the CTSF gene (603539.0001-603539.0003). The mutations, which were found by linkage analysis combined with exome sequencing, segregated ...