Two Members of a Family with Hallervorden Spatz Disease

Abedini, Mahmood and Zarvani, Ashraf and Khoshnama, Ebrahim and Baghbanian, Seyed Moham (2012) Two Members of a Family with Hallervorden Spatz Disease. Journal of Mazandaran University of Medical Sciences, 22 (87). pp. 109-113.

Full text not available from this repository.
Official URL: http://jmums.mazums.ac.ir/article-1-813-en.html

Abstract

Hallervorden Spatz Disease is a rare neurodegenerative disorder with the prevalence of one to three per million. The onset of symptoms is usually in late childhood and early adolescence. However, some cases of the disease were reported in adulthood which could be familial or sporadic. The familial cases are autosomal-recessive resulting from mutation in the pantothenate kinase 2 gene located on chromosome 20 causing abnormal accumulation of iron in globus pallidus and pars reticulata. Major clinical features include abnormal involuntary movements and cognitive impairment. Diagnosis is made based on presence of both pyramidal and extrapyramidal symptoms in clinical and radiological investigation. The radiological features are hypointense signals in globus pallidus and substantia nigra on MRI of brain. Occasionally the pallidal hypointense signals surround hyperintense signals which is known as “tiger-eye-sign” and is believed to be specific for Hallervorden Spatz Disease.

Item Type: Article
Uncontrolled Keywords: Hallervorden spatz disease, abnormal involuntary movements, cognitive impairment, tiger-eye-sign
Depositing User: Unnamed user with email eprints@mazums.ac.ir
Date Deposited: 04 Jan 2018 18:13
Last Modified: 04 Jan 2018 18:13
URI: http://eprints.mazums.ac.ir/id/eprint/2401

Actions (login required)

View Item View Item