Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report

McNeil-Gauthier, Anne-Lou; Brais, Bernard; Rouleau, Guy A.; Anoja, Nancy; Ducharme, Simon

doi:10.1080/13554794.2019.1625928

Cited by 7 publications

(5 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…McNiel-Gauthier et al [27] suggested that low dose aripiprazole was effective without definitive evidence of medication-related EPS in their patient, this was presumably speculative given his progressive motor dysfunction.…”

Section: Discussionmentioning

confidence: 94%

“…Lastly, McNiel-Gauthier et al [27] described a 32 year old male who was referred to psychiatric services due to “behavioral outbursts” and “odd beliefs”. In adulthood, he developed “ideas of reference” (e.g., in relation to the television) and “non-systematized persecutory delusions” that involved concerns about being “mocked” by others and surveyed from parked cars.…”

Section: Resultsmentioning

confidence: 99%

“…In some cases, even typical or first generation antipsychotics, which are particularly problematic in this respect, were used. Although McNiel-Gauthier et al [27] suggested that low dose aripiprazole was effective without definitive evidence of medication-related EPS in their patient, this was presumably speculative given his progressive motor dysfunction.…”

Section: Discussionmentioning

confidence: 98%

“…However, the authors do state that the initiation of levodopa/carbidopa 300 mg/day led to an improvement in her tremor and bradykinesia, and that from age 32 onward she was able to remain off antipsychotic medication "without paranoid outbreaks". Lastly, McNiel-Gauthier et al [27] described a 32 year old male who was referred to psychiatric services due to "behavioral outbursts" and "odd beliefs". In adulthood, he developed "ideas of reference" (e.g., in relation to the television) and "non-systematized persecutory delusions" that involved concerns about being "mocked" by others and surveyed from parked cars.…”

Section: Literature Searchmentioning

confidence: 99%

See 3 more Smart Citations

Kufor-Rakeb Syndrome-Associated Psychosis: A Novel Loss-of-FunctionATP13A2Variant and Response to Treatment

Colijn,

Vrijsen,

et al. 2024

Preprint

View full text Add to dashboard Cite

Biallelic (autosomal recessive) pathogenic variants in ATP13A2 cause a form of juvenile-onset parkinsonism, termed Kufor-Rakeb syndrome. In addition to motor symptoms, a variety of other neurological and psychiatric symptoms may occur in affected individuals, including supranuclear gaze palsy, spasticity, and cognitive decline. Although psychotic symptoms are often reported, response to antipsychotic therapy is not well described in previous case reports/series. As such, we describe treatment response in an individual with Kufor-Rakeb syndrome-associated psychosis. His disease was caused by a homozygous novel loss-of-function ATP13A2 variant (NM_022089.4, c.1970_1975del) that was characterized in this study. Our patient exhibited a good response to quetiapine monotherapy, which he has so far tolerated well. We also reviewed the literature and summarized all previous descriptions of antipsychotic treatment response. Although its use has infrequently been described in Kufor-Rakeb syndrome, quetiapine is commonly used in other degenerative parkinsonian disorders, given its lower propensity to cause extrapyramidal symptoms. As such, quetiapine should be considered in the treatment of Kufor-Rakeb syndrome-associated psychosis, when antipsychotic therapy is deemed necessary.

show abstract

Section: Discussionmentioning

confidence: 94%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 98%

Section: Literature Searchmentioning

confidence: 99%

See 2 more Smart Citations

Kufor-Rakeb Syndrome-Associated Psychosis: A Novel Loss-of-FunctionATP13A2Variant and Response to Treatment

Colijn,

Vrijsen,

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…The age of onset is usually in the second decade of life. Additional clinical features may include tremor, facial-faucial-finger mini myoclonus, oculogyric dystonic spasms, slow saccadic eye movement, peripheral neuropathy, and visual hallucinations [ 163 , 164 , 165 , 166 , 167 , 168 , 169 , 170 , 171 , 172 , 173 ]. Brain MRI may display generalized brain atrophy with bilateral putaminal and caudate iron accumulation [ 165 , 174 , 175 , 176 ].…”

Section: Monogenic Causes Of Pd Associated With Endolysosomal and Ves...mentioning

confidence: 99%

Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview

Yahya

Fonzo

Monfrini

2023

IJMS

View full text Add to dashboard Cite

Parkinson’s disease (PD) is the second most common neurodegenerative disorder in the aging population, and no disease-modifying therapy has been approved to date. The pathogenesis of PD has been related to many dysfunctional cellular mechanisms, however, most of its monogenic forms are caused by pathogenic variants in genes involved in endolysosomal function (LRRK2, VPS35, VPS13C, and ATP13A2) and synaptic vesicle trafficking (SNCA, RAB39B, SYNJ1, and DNAJC6). Moreover, an extensive search for PD risk variants revealed strong risk variants in several lysosomal genes (e.g., GBA1, SMPD1, TMEM175, and SCARB2) highlighting the key role of lysosomal dysfunction in PD pathogenesis. Furthermore, large genetic studies revealed that PD status is associated with the overall “lysosomal genetic burden”, namely the cumulative effect of strong and weak risk variants affecting lysosomal genes. In this context, understanding the complex mechanisms of impaired vesicular trafficking and dysfunctional endolysosomes in dopaminergic neurons of PD patients is a fundamental step to identifying precise therapeutic targets and developing effective drugs to modify the neurodegenerative process in PD.

show abstract

Pallidal degenerations and related disorders: an update

Jellinger¹

2021

J Neural Transm

View full text Add to dashboard Cite

Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report

Cited by 7 publications

References 12 publications

Kufor-Rakeb Syndrome-Associated Psychosis: A Novel Loss-of-FunctionATP13A2Variant and Response to Treatment

Kufor-Rakeb Syndrome-Associated Psychosis: A Novel Loss-of-FunctionATP13A2Variant and Response to Treatment

Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview

Pallidal degenerations and related disorders: an update

Contact Info

Product

Resources

About