LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS

General Information (adopted from Orphanet):

Synonyms, Signs: LABRUNE SYNDROME
LCC
Number of Symptoms 15
OrphanetNr:
OMIM Id: 614561
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001332) Dystonia 197 / 7739
2
(HPO:0001337) Tremor 200 / 7739
3
(HPO:0001257) Spasticity 251 / 7739
4
(HPO:0001251) Ataxia 413 / 7739
5
(HPO:0002301) Hemiplegia 42 / 7739
6
(HPO:0001260) Dysarthria 329 / 7739
7
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
10
(HPO:0001268) Mental deterioration 88 / 7739
11
(HPO:0002514) Cerebral calcification 89 / 7739
12
(HPO:0002415) Leukodystrophy 30 / 7739
13
(OMIM) Intracerebral cysts 4 / 7739
14
(HPO:0002352) Leukoencephalopathy 32 / 7739
15
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline ...
Clinical Description OMIM Labrune et al. (1996) reported 3 unrelated children with progressive calcifications in the cerebrum and cerebellum and leukodystrophy on MRI. The changes were noted between early infancy and adolescence. Clinical features included slowing of cognition, seizures, and a ...
Molecular genetics OMIM - Exclusion Studies

Anderson et al. (2012) excluded mutations in the CTC1 gene in 21 families with Labrune syndrome. Polvi et al. (2012) also excluded mutations in the CTC1 gene in 2 probands with cerebral calcifications, ...