Kufor-Rakeb Syndrome- Rare Cause of Movement Disorder

Sidra Saleem and Arsalan Anwar
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Sidra Saleem: Dow Medical College, Karachi, Pakistan
Arsalan Anwar: University Hospitals Cleveland Clinic Medical Center, Pakistan

Open Access Journal of Neurology & Neurosurgery, 2019, vol. 11, issue 2, 44-46

Abstract: Juvenile Parkinson’s Disease (JPD) is a rare movement disorder, that present before the age of 21 years. Kufor-Rekab syndrome (KRD) is one of the distinct types of JPD caused by ATP13A2 mutation and inherited as an autosomal recessive. The pathogenesis of KRD is related to inter-related metabolism of ATP13A2 with Mn2 and Zn2, bioenergetics of mitochondria, autophagy lysosomal dysfunction and synuclein metabolism. Clinically, KRD has a variable phenotype and may present with pyramidal or extrapyramidal symptoms and cognitive impairment. Early diagnosis of KRD is important as most of these patients are levodopa responsive and genetic counseling and screening is important for the whole family. We present a case of a 16-year-old boy who presented with tremors and walking difficulty and was later diagnosed as KRD.

Keywords: Open Access Journal of Neurology; Journal of Neurology & Neurosurgery; Open Access Journal; juniper publishers; neurology open access journals; journal of neurology; neurology indexed journals; neurology scholarly journals; journal of neurology; neurology journals impact factor; juniper publishers reivew (search for similar items in EconPapers)
Date: 2019
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Persistent link: https://EconPapers.repec.org/RePEc:adp:joajnn:v:11:y:2019:i:2:p:44-46

DOI: 10.19080/OAJNN.2019.11.555810

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