Aripiprazole in a Patient of PLA2G6-Associated Neurodegeneration With Psychosis

Huang, Mao‐Hsuan; Chiu, Yu‐Chuan; Tsai, Chang‐Youh

doi:10.1097/wnf.0000000000000284

Cited by 5 publications

(14 citation statements)

References 5 publications

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“…Predefined data were extracted (Supporting Information File 3). 7‐10,12‐14,16,24,25,29‐32,35,39‐63 Overall, 86 cases from 68 kindreds contributed to the phenogenotypic description of PLA2G6 ‐related parkinsonism.…”

Section: Resultsmentioning

confidence: 99%

Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism

et al. 2021

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A BS TRACT: Background: Complex parkinsonism is the commonest phenotype in late-onset PLA2G6associated neurodegeneration. Objectives: The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported. Methods: We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review. Results: PLA2G6-related parkinsonism shows a fairly distinct phenotype based on 86 cases from 68 pedigrees. Young onset (median age, 23.0 years) with parkinsonism/ dystonia, gait/balance, and/or psychiatric/cognitive symptoms were common presenting features. Dystonia occurred in 69.4%, pyramidal signs in 77.2%, myoclonus in 65.2%, and cerebellar signs in 44.6% of cases. Early bladder overactivity was present in 71.9% of cases. Cognitive impairment affected 76.1% of cases and psychiatric features 87.1%, the latter being an isolated presenting feature in 20.1%. Parkinsonism was levodopa responsive but complicated by early, often severe dyskinesias. Five patients benefited from deep brain stimulation. Brain magnetic resonance imaging findings included cerebral (49.3%) and/or cerebellar (43.2%) atrophy, but mineralization was evident in only 28.1%. Presynaptic dopaminergic terminal imaging was abnormal in all where performed. Fifty-four PLA2G6 mutations have hitherto been associated with parkinsonism, including four new variants reported in this article. These are mainly nontruncating,

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Section: Resultsmentioning

confidence: 99%

Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism

et al. 2021

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“…We included 50 patients in the analysis, 49 from the literature and the patient described here. Of these 50 patients, 28 (56%) were men and they had a mean age of 26 years old at PD diagnosis (IQR [22][23][24][25][26][27][28][29][30][31]. Of these, 80% were Asian (India/Pakistan 5, 10%; Far East 10, 20%; or Middle East 25, 50%) and 20% were Caucasian (10).…”

Section: Results Of the Literature Reviewmentioning

confidence: 99%

“…Taking into account the information on all the PLAN-DP patients published to date, we found that NMS are very frequent in this condition, evident in more than 80% of patients. NMS preceded the diagnosis of parkinsonism in 46% of patients [ 4 , 16 , 18 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 38 ], sometimes even 20 years earlier. Unlike idiopathic Parkinson´s disease (iPD) in which hyposmia, REM sleep behavior disorder, depression and constipation are the most frequent premotor symptoms [ 39 ], neuropsychiatric symptoms dominate the clinical landscape in pre-motor PLAN-DP.…”

Section: Discussionmentioning

confidence: 99%

“…We also searched the national Dialnet and IBECS databases using the same terms in Spanish. We found 67 articles, 25 of which described one or more patients [ 4 , 6 , 7 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 ]. We also included another article published after November 2019 [ 38 ].…”

Section: Literature Search and Selectionmentioning

confidence: 99%

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Non-Motor Symptoms in PLA2G6-Associated Dystonia-Parkinsonism: A Case Report and Literature Review

Vela-Desojo

Urso

Osuna-López³

et al. 2022

JCM

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PLA2G6-dystonia-parkinsonism (PLAN-DP) is characterized by levodopa responsive parkinsonism and dystonia. While neuropsychiatric symptoms and early cognitive decline are also common in this entity there is little information regarding other non-motor symptoms (NMS). Here, we describe a 26-year-old patient with PLAN-DP whose motor symptoms were preceded by mild cognitive impairment and anxiety, and who developed many other NMS as the disease evolved. Furthermore, we reviewed the NMS described in all the PLAN-DP patients published to date. A total of 50 patients with PLAN-DP were identified, 42 of whom developed NMS and in 23 of these cases, NMS preceded the motor symptoms of the disease. Neuropsychiatric symptoms dominated the premotor phase of this condition and cognitive impairment/dementia was the most prevalent NMS. Other NMS were reported infrequently like sleep disorders, autonomic symptoms, pain and hyposmia, and mostly as the disease evolved. NMS are very frequent in PLAN-DP and they may appear before diagnosis or during the course of the disease. Neuropsychiatric symptoms and cognitive decline are the most frequent NMS. The appearance of neuropsychiatric symptoms like depression, anxiety or personality changes prior to a diagnosis of parkinsonism in younger individuals might suggest the presence of PLA2G6 gene mutations.

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“…166,168,171,173 Use of typical antipsychotics requires special caution, given that these drugs may induce parkinsonism or dystonia. 177 Though rare, increased sensitivity to neuroleptics (a paradoxical worsening of psychosis) has been reported. 167…”

Section: Neurodegeneration With Brain Iron Accumulationmentioning

confidence: 99%

Nosology and Phenomenology of Psychosis in Movement Disorders

Rossi

Farcy

Starkstein

et al. 2020

Movement Disord Clin Pract

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Background Background: Psychotic symptoms, such as delusions and hallucinations, are part of the clinical picture of several conditions presenting movement disorders. Phenomenology and epidemiology of psychosis in Parkinson's disease have received wide attention; however, the presence of psychosis in other movement disorders is, comparatively, less well known. Objectives Objectives: To review psychotic symptoms present in different movement disorders. Methods Methods: A comprehensive and structured literature search was performed to identify and analyze data on patients with movement disorders and comorbid psychosis.

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Aripiprazole in a Patient of PLA2G6-Associated Neurodegeneration With Psychosis

Cited by 5 publications

References 5 publications

Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism

Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism

Non-Motor Symptoms in PLA2G6-Associated Dystonia-Parkinsonism: A Case Report and Literature Review

Nosology and Phenomenology of Psychosis in Movement Disorders

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