Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.

ABSTRACT:

Aims

To investigate the natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.

Methods

We collected data of patients with PKAN by searching from available publications in English and Chinese. Patients diagnosed in our center (Peking University First Hospital) were also included. The difference in natural history and genotype between early-onset (<10 year of age at onset) and late-onset patients (≥10 year of age at onset) with PKAN was compared.

Results

A total of 248 patients were included. The median age at onset was 3.0 years in the early-onset group and 18.0 years in the late-onset group. Dystonia in lower limbs was the most common initial symptom in both groups. In the early-onset group, the median interval between

SUBMITTER: Chang X 

PROVIDER: S-EPMC7298993 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature