Diagnostic delay in Parkinson's disease caused by PRKN mutations

Ruiz-López, Marta; Freitas, Maria Eliza; Oliveira, Luiz Marcellino de; Munhoz, Renato P.; Fox, Susan H.; Rohani, Mohammad; Rogaeva, Ekaterina; Lang, Anthony E.; Fasano, Alfonso

doi:10.1016/j.parkreldis.2019.01.010

Cited by 22 publications

(18 citation statements)

References 12 publications

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“…They were often being misdiagnosed as dopa‐responsive dystonia. Unusual presentations, such as lack of tremor, gait disorder, and the involvement of lower limbs, might also be contributing to the diagnostic delay (Ruiz‐Lopez et al., 2019). In addition, hyperreflexia, lack of hyposmia, and RBD might highlight some diagnostic challenges.…”

Section: Discussionmentioning

confidence: 99%

Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early‐onset Parkinson's disease

Jiang

Chen

et al. 2020

Brain and Behavior

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Section: Discussionmentioning

confidence: 99%

Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early‐onset Parkinson's disease

Jiang

Chen

et al. 2020

Brain and Behavior

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“…The accurate diagnosis of PARK‐ parkin is often delayed because of the young age of onset and the variable phenotypic presentation . Therefore, we describe an illustrative family to show the broad phenotypic spectrum and diagnostic obstacles and clues of PARK‐ parkin .…”

Section: Discussionmentioning

confidence: 99%

“…The accurate diagnosis of PARK-parkin is often delayed because of the young age of onset and the variable phenotypic presentation. 4 Therefore, we describe an illustrative family to show the broad phenotypic spectrum and diagnostic obstacles and clues of PARK-parkin. The spectrum in this family ranges from isolated jerky action tremor of the hands described in case 1 to paroxysmal exercise-induced foot dystonia in case 2 and mild action tremor of 1 hand in the heterozygous father.…”

Section: Discussionmentioning

confidence: 99%

“…However, it has been shown that many of these features depend more on age of onset (early onset) than on the underlying genetic cause . Because of the vast phenotypic variability of early‐onset PD, accurate diagnosis and appropriate treatment are often grossly delayed . An intriguing aspect, which can be observed in some families with PARK‐ parkin , is a “pseudodominant” inheritance.…”

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confidence: 99%

“…3 Because of the vast phenotypic variability of early-onset PD, accurate diagnosis and appropriate treatment are often grossly delayed. 4 An intriguing aspect, which can be observed in some families with PARK-parkin, is a "pseudodominant" inheritance. The role of heterozygosity in a putative recessive gene such as parkin is still a matter of ongoing discussion.…”

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The Phenotypic Variation of a Parkin‐Related Parkinson's Disease Family and the Role of Heterozygosity

Stark

Walch

Kägi

2019

Movement Disord Clin Pract

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Background Parkinson's disease (PD) is a common neurodegenerative disorder with both sporadic occurrence and Mendelian heredity, as it is true for autosomal recessive parkin‐related PD (PARK‐parkin). Parkin‐related PD is characterized by early onset, slow progression, frequent lower limb dystonia, and a robust response to levodopa. Clinicians are increasingly confronted with heterozygous PD patients mimicking dominant inheritance. Nevertheless, the exact clinical implications of heterozygosity are not fully understood. Cases We present an illustrative PARK‐parkin family with 2 affected sisters (compound heterozygous) and their father (heterozygous). One sister expresses the classical phenotype, whereas the other has isolated jerky tremor. The father has left‐sided action tremor of the hand with some dystonic posturing without clear bradykinesia and normal DaTSCAN. Conclusion This case series illustrates the phenotypic variability in parkin‐related PD with 1 classical phenotype and 1 patient with isolated jerky tremor. Unilateral hand tremor of the heterozygous father could mislead genetic testing by mimicking dominant inheritance.

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Ethical Considerations of Unsolicited Medical Opinion in Movement Disorders

Araújo,

Kole,

Ferreira

et al. 2023

Movement Disord Clin Pract

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The story of Nadia Popovici, a medical student who spotted a suspicious-looking mole on the neck of a hockey team manager in Canada, made headlines worldwide. 1 The unsuspecting manager was unaware of this lesion, which turned out to be a melanoma. Ms. Popovici shared her unsolicited suspicions with this manager, urging him to seek medical attention. After that, she reconsidered her actions, questioning whether it was appropriate for her to bring this up. After the lesion was removed, the manager and the team posted a tweet online looking for the person who alerted the manager. After finding Nadia, the team conveyed their gratitude. This captivating story went viral and was picked up by major news organizations. Ms. Popovici's actions received overwhelmingly positive feedback from the public. 1 This illustrates a recurrent medical-ethical issue called "unsolicited medical opinion" (UMO). The paradigmatic examples are from dermatology. 2,3 A timely diagnosis of melanoma may have direct implications for a person's life. The issue of a UMO also arises in movement disorders. Consider a neurologist encountering an unknown person outside the examination room and incidentally noticing an asymmetrically reduced arm swing and a subtle resting tremor. Should he/she say something? How would this information be received? Would that benefit the person's health and well-being? Could the decision have medicolegal repercussions? And what would be the right way to approach the unsuspecting person?The question of whether to provide UMO to unknown passersby (ie, people with no degree of familiarity with the observer) often presents to experts in movement disorders. This raises ethical (and legal) questions. In standard medical ethics, questions involving moral duties, rights, virtues, and values are framed in the "patient-physician" relationship. In the context of a UMO, until the advice is given, such a relationship does not yet exist. Neurologists and other professionals will not always have the chance to do this at the very moment of the incidental observation, but it is important to justify their ethical decision afterward. Our position is that a justification based on intuition is not enough. In this article, we aim to explore the ethical considerations that should be weighed to justify one's decision concerning UMO in the field of movement disorders. Neurological Observations Outside the ClinicThe issue of UMO in neurology may arise for several reasons. First, the art of neurological observation is sharpened through years of training and cannot be "turned off" outside the office. Secondly, the public usually expects physicians to have a moral responsibility to assist others, including people with whom they do not have an established professional relationship, for example, a medical emergency taking place on a plane. A physician's refusal to assist in such situations may even have legal repercussions, depending on the circumstances. 4 The issue of incidental observations outside the clinic is particularly relevant for movement...

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Diagnostic delay in Parkinson's disease caused by PRKN mutations

Cited by 22 publications

References 12 publications

Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early‐onset Parkinson's disease

Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early‐onset Parkinson's disease

The Phenotypic Variation of a Parkin‐Related Parkinson's Disease Family and the Role of Heterozygosity

Ethical Considerations of Unsolicited Medical Opinion in Movement Disorders

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