1. Novel mutations in FA2H-associated neurodegeneration: an underrecognized condition?

Novel mutations in FA2H-associated neurodegeneration: an underrecognized condition?

Rosemarie Rupps 1, 2, 3 Juliette Hukin, MD 3, 1 Martha Balicki 1 Saadet Mercimek-Mahmutoglu, MD 1 Prof. Arndt Rolfs, MD 4 Cristina Dias, MD 1, 3
1 University of British Columbia 2 Rare Disease Foundation Vancouver 3 Child and Research Institute Vancouver 4 University of Rostock
July 17, 2012

J Child Neurol 28(11) · September 2012
doi: 10.1177/0883073812458538

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