Affective Symptoms in a Patient with Parkinson's Disease and Alkaptonuria

Ertek, İrem Ekmekçi; Candansayar, Selçuk

doi:10.3928/00485713-20200106-01

Cited by 1 publication

(2 citation statements)

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“…The association between AKU and PD appears to have been first reported in 1968 14 . Since then single sporadic case reports of this association have appeared in the medical literature 15–20 . The opportunity to address the possible causality of this association of AKU and PD became available to us through access to the relatively large NAC cohort.…”

Section: Discussionmentioning

confidence: 99%

“…14 Since then single sporadic case reports of this association have appeared in the medical literature. 15 , 16 , 17 , 18 , 19 , 20 The opportunity to address the possible causality of this association of AKU and PD became available to us through access to the relatively large NAC cohort. The prevalence of AKU in non‐consanguineous populations is around 1 in 250 000, 1 whereas the frequency of PD is much higher at around 1 in 500 in the general population 21 and 1% in those 65 years of age and older.…”

Section: Discussionmentioning

confidence: 99%

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Increased prevalence of Parkinson's disease in alkaptonuria

et al. 2023

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Amongst a cohort of 88 alkaptonuria (AKU) patients attending the United Kingdom National Alkaptonuria Centre (NAC), four unrelated patients had co‐existing Parkinson's disease (PD). Two of the NAC patients developed PD before receiving nitisinone (NIT) while the other two developed overt PD during NIT therapy. NIT lowers redox‐active homogentisic acid (HGA) and profoundly increases tyrosine (TYR). A further unpublished case of a Dutch patient with AKU and PD on deep brain stimulation is included in this report. A Pubmed search revealed a further five AKU patients with PD, all without NIT usage. The prevalence of PD in AKU in the NAC appears to be nearly 20‐times higher than in the non‐AKU population (p < 0.001) even when adjusted for age. We propose that life‐long exposure to redox‐active HGA may account for the higher prevalence of PD in AKU. Furthermore, the appearance of PD in AKU patients during NIT therapy may be due to unmasking dopamine deficiency in susceptible individuals, as a result of the tyrosinaemia during NIT therapy inhibiting the rate‐limiting brain tyrosine hydroxylase.

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Section: Discussionmentioning

confidence: 99%