Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature.
Neurocase
; 26(3): 175-182, 2020 06.
Article
in En
| MEDLINE
| ID: mdl-32310012
ABSTRACT
Panthothenate kinase-associated neurodegeneration (PKAN) is arare neurodegeneration caused by mutations in the pantothenate kinase (PANK2) gene, which is located on chromosome 20p13. These mutations result in iron accumulation in the brain basal ganglia leading to parkinsonism, dysarthria, spasticity, cognitive impairment, and retinopathy. Herein, we report acase of adult-onset PKAN who presented with young-onset action tremor, bradykinesia, dysarthria, and bilateral interossei atrophy. Neuroimaging demonstrated "eye-of-the-tiger signs". Through analyzing PANK2 gene, PANK2 NM_153638c.1133A>G (p.Asp378 Gly) and PANK2 NM_153638c.1502 T > A (p.lle501Asn), were detected. In addition, we reviewed the clinical and genetic features and therapeutic strategies for patients with PKAN.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phosphotransferases (Alcohol Group Acceptor)
/
Pantothenate Kinase-Associated Neurodegeneration
Type of study:
Risk_factors_studies
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
Neurocase
Journal subject:
CIENCIAS DO COMPORTAMENTO
/
NEUROLOGIA
/
PSICOLOGIA
/
PSIQUIATRIA
Year:
2020
Document type:
Article
Affiliation country:
China