Novel compound heterozygous mutations causing Kufs disease type B.
Int J Neurosci
; 128(6): 573-576, 2018 Jun.
Article
in En
| MEDLINE
| ID: mdl-29120254
ABSTRACT
BACKGROUND:
Kufs disease type B (also termed CLN13), an adult-onset form of neuronal ceroid lipofuscinosis (NCL), is genetically heterogeneous and challenging to diagnose. Recently, mutations in cathepsin-F have been identified as the causative gene for autosomal recessive Kufs disease type B.RESULTS:
Here, we report a sporadic case of Kufs disease type B with novel compound heterozygous mutations, a novel missense mutation c.977G>T (p.C326F) and a novel nonsense mutation c.416C>A (p.S139X), in the cathepsin-F gene. The magnetic resonance imaging findings were consistent with those demonstrated in adult neuronal ceroid lipofuscinosis diffuse cortical atrophy, mild hyperintensity and reduction of the deep white matter on T2-weighted images. A skin biopsy was negative for abnormalities.CONCLUSIONS:
Altogether, our findings broaden the mutation database in relation to the neuronal ceroid lipofuscinosis, and the clinical diagnosis of Kufs disease type B was confirmed.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cathepsin F
/
Neuronal Ceroid-Lipofuscinoses
Type of study:
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Int J Neurosci
Year:
2018
Document type:
Article