Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

Excerpt

Infantile bilateral striatal necrosis (IBSN) includes a heterogeneous group of disorders, characterized by symmetrical degeneration predominantly of the caudate nucleus and the putamen [1]. The clinical features encompass pyramidal and extrapyramidal signs such as choreoathetosis, dystonia, spasticity, dysarthria, and dysphagia in conjunction with developmental regression or mental retardation, and additional neurological symptoms [1]. The differential diagnosis has to take into account a variety of toxic, infectious, metabolic, and neurodegenerative disorders [1]. In familial cases, mutations in the mitochondrial genes ATP6 and ND6, and in the nuclear encoded genes nucleoporin 62 (NUP62) and mitochondrial thiamine pyrophosphate transporter (SLC25A19), have been described [2]. We report two siblings with IBSN and a mutation in NDUFV1, not yet linked to this condition. …