Kufor-Rakeb syndrome

Definition:

Kufor Rakeb syndrome (KRS), also known as Parkinson disease 9 (PARK9), is an autosomal recessive disorder characterized by subacute, juvenile onset, levodopa responsive parkinsonism, pyramidal signs, dementia, and a supranuclear gaze palsy. It has been reported that brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. KRS is due to ATP13A2 gene mutations.

References:

[1]. David R Williams, et al. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord. 2005 Oct;20(10):1264-71. [Content Brief]

[2]. Lucio Santoro, et al. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. Neurogenetics. 2011 Feb;12(1):33-9. [Content Brief]

[3]. Susanne A Schneider, et al. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord. 2010 Jun 15;25(8):979-84. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.