Infantile bilateral striatal necrosis

Definition

Infantile bilateral striatal necrosis (IBSN) is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. The mechanism of IBSN has not been elucidated, although it has been reported that IBSN usually occurs as a result of metabolic, familial, or toxic diseases. Mutations in the adenosine triphosphatase 6 gene (complex V) have been described in families with mitochondrial inheritance, while there is much evidence that supports the role of the mutation in NUP62 as the cause of autosomal recessive IBSN. Human herpes virus-6 (HHV-6) infection has been reported to associated with this disease.

References:

[1]. Aki Murakami, et al. Infantile bilateral striatal necrosis associated with human herpes virus-6 (HHV-6) infection. Brain Dev. 2005 Oct;27(7):527-30. [Content Brief]

[2]. D Thyagarajan, et al. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol. 1995 Sep;38(3):468-72. [Content Brief]

[3]. L Basel-Vanagaite, et al. Infantile bilateral striatal necrosis maps to chromosome 19q. Neurology. 2004 Jan 13;62(1):87-90. [Content Brief]

[4]. Lina Basel-Vanagaite, et al. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol. 2006 Aug;60(2):214-22. [Content Brief]

[5]. R Straussberg, et al. Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment. Neurology. 2002 Oct 8;59(7):983-9. [Content Brief]

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