Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
Journal of Movement Disorders
; : 20-27, 2016.
Article
en En
| WPRIM
| ID: wpr-187647
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. METHODS: We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN). RESULTS: Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN. CONCLUSIONS: We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Fenotipo
/
Derivación y Consulta
/
Ganglios Basales
/
Tiempo (Meteorología)
/
Características de la Población
/
Encéfalo
/
Edad de Inicio
/
Enfermedades Neurodegenerativas
/
Trastornos Parkinsonianos
/
Distonía
Tipo de estudio:
Prognostic_studies
Aspecto:
Determinantes_sociais_saude
Límite:
Adult
/
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Journal of Movement Disorders
Año:
2016
Tipo del documento:
Article