A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).
Am J Med Genet A
; 164A(9): 2388-90, 2014 Sep.
Article
in En
| MEDLINE
| ID: mdl-25044655
ABSTRACT
Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X-linked dominant neurodegenerative disorder, and is classified as a subtype of neurodegeneration with brain iron accumulation. Recently, de novo heterozygous mutations in WDR45 at Xp11.23 have been reported in patients with SENDA. We report the clinical and neuroradiological findings of a patient with SENDA with a novel c.322del mutation in WDR45. In this patient, characteristic MRI findings were useful for diagnosis.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Brain Diseases
/
Carrier Proteins
/
Neurodegenerative Diseases
/
Mutation
Limits:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2014
Type:
Article
Affiliation country:
Japan