Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.
Eur J Paediatr Neurol
; 28: 81-88, 2020 Sep.
Article
em En
| MEDLINE
| ID: mdl-32811771
ABSTRACT
BACKGROUND:
Neurodegeneration with brain iron accumulation constitutes a group of rare progressive movement disorders sharing intellectual disability and neuroimaging findings as common denominators. Beta-propeller protein-associated neurodegeneration (BPAN) represents approximately 7% of the cases, and its first signs are typically epilepsy and developmental delay. We aimed to describe in detail the phenotype of BPAN with a special focus on iron metabolism. MATERIAL ANDMETHODS:
We present a cohort of paediatric patients with pathogenic variants of WD-Repeat Domain 45 gene (WDR45). The diagnosis was established by targeted panel sequencing of genes associated with epileptic encephalopathies (n = 9) or by Sanger sequencing of WDR45 (n = 1). Data on clinical characteristics, molecular-genetic findings and other performed investigations were gathered from all participating centres. Markers of iron metabolism were analysed in 6 patients.RESULTS:
Ten children (3 males, 7 females, median age 8.4 years) from five centres (Prague, Berlin, Vogtareuth, Tubingen and Cologne) were enrolled in the study. All patients manifested first symptoms (e.g. epilepsy, developmental delay) between 2 and 31 months (median 16 months). Seven patients were seizure-free (6 on antiepileptic medication, one drug-free) at the time of data collection. Neurological findings were non-specific with deep tendon hyperreflexia (n = 4) and orofacial dystonia (n = 3) being the most common. Soluble transferrin receptor/log ferritin ratio was elevated in 5/6 examined subjects; other parameters of iron metabolism were normal.CONCLUSION:
Severity of epilepsy often gradually decreases in BPAN patients. Elevation of soluble transferrin receptor/log ferritin ratio could be another biochemical marker of the disease and should be explored by further studies.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte
/
Distúrbios do Metabolismo do Ferro
/
Doenças Neurodegenerativas
/
Ferro
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Paediatr Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
República Tcheca