Teaching Video Neuro
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 : Purposeless groaning in progressive supranuclear palsy

Low, Soon-Chai; Tan, Ai Huey; Lim, Shen‐Yang

doi:10.1212/wnl.0000000000003465

Cited by 7 publications

(8 citation statements)

References 2 publications

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“…Moaning has classically been reported in neurodegenerative PSP and, recently, in advanced Parkinson's disease and other disorders with prominent frontal involvement [7,8]. In rare cases, L-dopa has been described to induce moaning [9]; however, in our patient, this symptom developed years after beginning L-dopa and therefore renders a pharmacologic association unlikely.…”

Section: Discussionmentioning

confidence: 61%

Moaning Phenomenon and Rapidly Progressive Dementia in Anti LGI-1 Associated Progressive Supranuclear Palsy Syndrome

Hierro

Rojas

Aldinio

et al. 2020

Tremor and Other Hyperkinetic Movements

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Background: Immunological causes of atypical parkinsonisms linked to neuronal specific antibodies have been recently reported. As these are potentially treatable disorders, it is desirable to identify which clinical features may suggest an autoimmune etiology. Case Report: A 60-year-old-man with progressive supranuclear palsy associated with anti-LGI-1 antibodies presented with rapidly progressive dementia and moaning. Treatment with steroids and immunoglobulin resulted in temporary clinical improvement and disease stabilization. Discussion: Anti-LGI-1 antibodies interfere with normal synaptic activity and maturation in the central nervous system. We suggest that an immune-mediated mechanism might be considered in atypical parkinsonisms with unusual features such as rapidly progressive dementia. Highlights: We present a case of rapidly evolving progressive supranuclear palsy-like parkinsonism associated with anti-LGI-1 antibodies, suggesting that immune-mediated mechanisms might be involved in rapid progression of some atypical parkinsonisms. This case also contributes to the expanding spectrum of moaning-associated disorders.

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Section: Discussionmentioning

confidence: 61%

Moaning Phenomenon and Rapidly Progressive Dementia in Anti LGI-1 Associated Progressive Supranuclear Palsy Syndrome

Hierro

Rojas

Aldinio

et al. 2020

Tremor and Other Hyperkinetic Movements

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“…Purposeless groaning has been anecdotally mentioned to occur in advanced PD [ 3 ], although to our knowledge, there has been no detailed report of this phenomenon in the literature. We believe that the present case study will be helpful to readers encountering this phenomenon in their clinical practice and that proper recognition will help clinicians to avoid unnecessary investigations and treatment (e.g., prescription of opioid medications), as highlighted previously by Stamelou and others [ 1 , 2 ].…”

Section: Discussionmentioning

confidence: 63%

“…Purposeless groaning is thought to be a manifestation of disinhibition and perseveration due to frontal-subcortical dysfunction [ 1 , 2 ]. Our patient also demonstrated the “applause sign” and a grasp response, which are additional features pointing to frontal lobe dysfunction [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

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Purposeless Groaning in Parkinson’s Disease

Lim

Tan

Lim

et al. 2018

JMD

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Purposeless groaning has been reported in advanced progressive supranuclear palsy. We present a case of purposeless groaning occurring as a primary complaint in a patient with advanced Parkinson’s disease. Purposeless groaning is thought to be a manifestation of disinhibition and perseveration due to frontal-subcortical dysfunction. Proper recognition of this phenomenon will help clinicians to avoid unnecessary investigations and treatment (e.g., prescription of opioid medications).

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“…At the age of 75 years, her motoric features were very advanced; her total CISI-PD score (performed blinded to the patient's genetic result) was 16 (motor signs 6, disability 6, motor complications 0, cognitive status 4). Besides her very long disease duration, another remarkable feature has been the occurrence of "purposeless groaning," a phenomenon typically seen in advanced stages of progressive supranuclear palsy (PSP) and very rarely reported in PD [22][23][24]. This patient did not exhibit signs of PSP (e.g., impairment of vertical eye movements).…”

Section: Case Report Of Patientmentioning

confidence: 87%

Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters

Lim

Ahmad‐Annuar

et al. 2020

Neurodegener Dis

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Pathogenic and risk variants in the LRRK2 gene are among the main genetic contributors to Parkinson’s disease (PD) worldwide, and LRRK2-targeted therapies for patients with PARK-LRRK2are now entering clinical trials. However, in contrast to the LRRK2 G2019S mutation commonly found in Caucasians, North-African Arabs, and Ashkenazi Jews, relatively little is known about other causative LRRK2 mutations, and data on genotype-phenotype correlations are largely lacking. This report is from an ongoing multicentre study in which next-generation sequencing-based PD gene panel testing has so far been conducted on 499 PD patients of various ethnicities from Malaysia. We describe 2 sisters of Chinese ancestry with PD who carry the R1441C mutation in LRRK2 (which in Asians has been reported in only 2 Chinese patients previously), and highlight interesting clinical observations made over a decade of close follow-up. We further explored the feasibility of using a brief, expert-administered rating scale (the Clinical Impression of Severity Index; CISI-PD) to capture data on global disease severity in a large (n = 820) unselected cohort of PD patients, including severely disabled individuals typically excluded from research studies. All patients in this study were managed and evaluated by the same PD neurologist, and these data were used to make broad comparisons between the monogenic PD cases versus the overall “real world” PD cohort. This report contributes to the scarce literature on R1441C PARK-LRRK2, offering insights into natural history and epidemiological aspects, and provides support for the application of a simple and reliable clinical tool that can improve the inclusion of under-represented patient groups in PD research.

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Teaching Video Neuro Images : Purposeless groaning in progressive supranuclear palsy

Cited by 7 publications

References 2 publications

Moaning Phenomenon and Rapidly Progressive Dementia in Anti LGI-1 Associated Progressive Supranuclear Palsy Syndrome

Moaning Phenomenon and Rapidly Progressive Dementia in Anti LGI-1 Associated Progressive Supranuclear Palsy Syndrome

Purposeless Groaning in Parkinson’s Disease

Clinical Phenotype of <b><i>LRRK2</i></b> R1441C in 2 Chinese Sisters

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