PRKN-related familial Parkinson's disease: First molecular confirmation from East Africa

Dekker, Marieke; Suleiman, Jamil; Bhwana, Dan; Howlett, William P.; Rashid, Sakina Mehboob; Minkelen, Rick van; Hamel, B.C.J.

doi:10.1016/j.parkreldis.2020.02.014

Cited by 5 publications

(4 citation statements)

References 4 publications

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“…A recent case study has shed light on the potential for advancements in genetic testing within Tanzania. This study confirmed the presence of PRKN-related familial Parkinson’s disease using molecular techniques, signaling a promising step forward in the field of genetics in the country ( Dekker et al, 2020 ). In contrast, the broader landscape of genetic testing for neurological disorders and diseases in adults in the northern Tanzania has shown limitations.…”

Section: Introductionsupporting

confidence: 73%

“…Outside of selected published case reports and anecdotal experiences, Tanzanian neurogenetics is largely missing from the global neurogenetic landscape. Published cases include Becker muscular dystrophy ( Dekker et al, 2019 ), Huntington’s disease ( Scrimgeour, 1981 ), Motor neuron disease ( Dekker et al, 2018 ), Parkinson’s disease ( Dekker et al, 2020 ), Carpenter syndrome ( Lodhia et al, 2021 ), Adrenoleukodystrophy ( Dekker et al, 2019 ), Paroxysmal kinesigenic dyskinesia ( Dekker et al, 2020 ), Freeman-Sheldon syndrome ( Ali et al, 2017 ), Cornelia de Lange Syndrome ( Mende et al, 2012 ), Ataxia-Telangiectasia ( van Os et al, 2020 ), and Nodding syndrome ( Amaral et al, 2023 ). It is important to note that all of the above ascertained in Tanzania with molecular confirmation done overseas.…”

Section: Introductionmentioning

confidence: 99%

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Advancing genetic testing for neurological disorders in Tanzania: importance, challenges, and strategies for implementation

Alimohamed,

Siima,

Manji

2024

Front. Neurosci.

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This manuscript discusses the critical need for advancing genetic testing capabilities for neurological disorders (NDs) in Tanzania, emphasizing the importance, challenges, and strategies for implementation. Neurological disorders, often caused by a complex interplay of genetic and environmental factors, disproportionately affect low and middle-income countries like Tanzania. Patients with neurogenetic diagnoses in Tanzania face substantial obstacles, including lack of trust in medical professionals, stigmatization, and limited access to proper care. The manuscript underscores the infancy of genetic testing implementation for NDs in Tanzania, citing challenges such as high costs, limited availability, and the absence of routine testing in diagnostic procedures. The paper recommends establishing well-characterized cohorts, conducting a nationwide emergency census survey, and enhancing diagnostic services and healthcare financing. The paper stresses on the importance of collaboration, research, public awareness, and advocacy to address the challenges posed by NDs in Tanzania. The manuscript proposes a comprehensive plan, including training and capacity building in molecular diagnosis and bioinformatics, to establish genetic testing capabilities and reduce the burden of NDs in the country. Overall, the manuscript calls for a collaborative effort involving government support, stakeholder engagement, and international partnerships to advance genetic testing and improve healthcare outcomes for individuals with neurological disorders in Tanzania.

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Section: Introductionsupporting

confidence: 73%

Section: Introductionmentioning

confidence: 99%

Advancing genetic testing for neurological disorders in Tanzania: importance, challenges, and strategies for implementation

Alimohamed,

Siima,

Manji

2024

Front. Neurosci.

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“…In the framework of the above study, an assessment on candidate and pharmacologically relevant genes (e.g., Catechol-O-methyltransferase; COMT) will be performed. To date, only one genetically confirmed PD kindred is known from the East African region, which was identified in North Tanzania and is due to a homozygous PRKN deletion (12).…”

Section: Tanzaniamentioning

confidence: 99%

“…A number of studies have been conducted in South Africa but the mutation detection rate has been low (32,40,(45)(46)(47)(48)(49)(50)(51)(52)(53)(54)(55). The other studies have been done in Nigeria (30)(31)(32), Tanzania (12), Zambia (56), and Ghana (57) but for the vast majority of the countries in Africa, no genetic studies have been reported. This is a striking omission since African populations have the oldest genomes and the greatest genetic diversity in the world, and are therefore likely to reveal novel insights into disease mechanisms and pathways underlying PD (58).…”

Section: Genetics Of Pd In African Populationsmentioning

confidence: 99%

Parkinson's Disease Research on the African Continent: Obstacles and Opportunities

et al. 2020

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The burden of Parkinson's disease (PD) is becoming increasingly important in the context of an aging African population. Although PD has been extensively investigated with respect to its environmental and genetic etiology in various populations across the globe, studies on the African continent remain limited. In this Perspective article, we review some of the obstacles that are limiting research and creating barriers for future studies. We summarize what research is being done in four sub-Saharan countries and what the key elements are that are needed to take research to the next level. We note that there is large variation in neurological and genetic research capacity across the continent, and many opportunities for unexplored areas in African PD research. Only a handful of countries possess appropriate infrastructure and personnel, whereas the majority have yet to develop such capacity. Resource-constrained environments strongly determines the possibilities of performing research locally, and unidirectional export of biological samples and genetic data remains a concern. Local-regional partnerships, in collaboration with global PD consortia, should form an ethically appropriate solution, which will lead to a reduction in inequality and promote capacity building on the African continent.

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Copy Number Variation in Parkinson's Disease: An Update from Sub‐Saharan Africa

et al. 2021

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PRKN-related familial Parkinson's disease: First molecular confirmation from East Africa

Cited by 5 publications

References 4 publications

Advancing genetic testing for neurological disorders in Tanzania: importance, challenges, and strategies for implementation

Advancing genetic testing for neurological disorders in Tanzania: importance, challenges, and strategies for implementation

Parkinson's Disease Research on the African Continent: Obstacles and Opportunities

Copy Number Variation in Parkinson's Disease: An Update from Sub‐Saharan Africa

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