2019
DOI: 10.7759/cureus.5409
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Juvenile Parkinson Disease

Abstract: Juvenile Parkinson's disease (JPD) is a rare movement disorder that presents before the age of 21 years. Kufor-Rekab syndrome (KRS) is one of the distinct types of JPD caused by the ATP13A2 mutation and inherited as an autosomal recessive. The pathogenesis of KRS is related to an interrelated metabolism of ATP13A2 with Mn+2 and Zn+2, bioenergetics of mitochondria, autophagy lysosomal dysfunction, and synuclein metabolism. Clinically, KRS has a variable phenotype and may present with pyramidal or extrapyramidal… Show more

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Cited by 7 publications
(8 citation statements)
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“…The incidence of PD increases with age, with an incidence of 0.5 per 100,000 for people below 40 years old compared to the overall incidence of 13.4 per 100,000 for all ages [36] . Early-onset PD is the development of symptoms in those below 60 years old.…”
Section: Early-onsetmentioning
confidence: 98%
“…The incidence of PD increases with age, with an incidence of 0.5 per 100,000 for people below 40 years old compared to the overall incidence of 13.4 per 100,000 for all ages [36] . Early-onset PD is the development of symptoms in those below 60 years old.…”
Section: Early-onsetmentioning
confidence: 98%
“…Parkinson's have been identified, some of which are associated with mutations in the DNAJC6 gene, which encodes for 970 proteins. 4 Another rare autosomal recessive variant of juvenile Parkinson's is Kufor-Rekab syndrome (KRS), which is linked to a mutation in the ATP13A2 gene 5 , and other cases of autosomal recessive juvenile Parkinson's have been documented to involve a parkin gene mutation (ARJP/PARK2), which is associated with a marked response to levodopa and is associated with levodopa-induced dyskinesia. 6 The diagnosis of PD is made clinically with the aid of history, examination, and responsiveness to levodopa.…”
Section: Multiple Autosomal Recessive Variants Of Juvenilementioning
confidence: 99%
“…Although PD is recognized as an idiopathic disease, with respect to age of onset the categorization has been subdivided into early (YOPD; young-onset PD) whose age is 50 years and younger, and late (LOPD; Late/regular onset PD) whose age is 50 years or older (Fénelon et al, 2000;De Lau et al, 2005). It's interesting to note, although often PD is regarded as a rare neurodegenerative disorder that mainly pertains to to a geriatric population, reported cases of YOPD is becoming much more frequent and even going into juvenile age groups, with the youngest person to have been diagnosed with Parkinson's Disease being twelve years of age (Anwar et al, 2019). YOPD patients are considered to have typical PD due to resemblance to LOPD patients in both clinical and pathological features.…”
Section: Age and Categorisation Of Onset In Parkinson's Diseasementioning
confidence: 99%