Novel Mutations in FA2H-Associated Neurodegeneration
| Autor: | Cristina Dias, Arndt Rolfs, Saadet Mercimek-Mahmutoglu, Juliette Hukin, Martha Balicki, Rosemarie Rupps |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Dystonia
medicine.medical_specialty Periventricular leukomalacia business.industry Hereditary spastic paraplegia Genetic heterogeneity Neurodegeneration Leukodystrophy Audiology medicine.disease Compound heterozygosity Bioinformatics nervous system diseases Pediatrics Perinatology and Child Health medicine Spastic Neurology (clinical) business |
| Zdroj: | Journal of Child Neurology. 28:1500-1504 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/0883073812458538 |
| Popis: | Hereditary spastic paraplegias and related genetically heterogeneous disorders may be difficult to distinguish clinically. The FA2H gene has been associated with autosomal recessive neurodegenerative phenotypes encompassing spastic paraplegia with or without dystonia, and demyelinating leukodystrophy. To date, few individuals with mutations in the FA2H gene have been described. We report a 5-year-old girl of mixed Filipino and Vietnamese origin who presented with progressive lower limb spasticity and periventricular leukomalacia. The clinical diagnosis of FA2H-associated neurodegeneration was confirmed on the basis of 2 novel mutations in compound heterozygosity in the FA2H gene (p.S70L/p.P323L). This family highlights that FA2H-associated disorders may be underrecognized in children with neurodegeneration of many different ethnicities. Magnetic resonance imaging features play an important role as diagnostic clues in this and other hereditary spastic paraplegias. The consideration of this diagnosis is essential in providing families with important information on prognosis, as well as accurate genetic counseling. |
| Databáze: | OpenAIRE |
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