Kufor Rakeb syndrome without gaze palsy and pyramidal signs due to novel ATP13A2 mutations

Satolli, Sara; Fonzo, Alessio Di; Zanobio, Mariateresa; Pezzullo, Giovanna

doi:10.1007/s10072-023-06899-2

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…The developmental and neurological histories of these individuals, as well as information regarding their particular ATP13A2 variants, are summarized in Table 1. Five additional articles alluded to the use of antipsychotic medication but did not provide any information regarding treatment response [16][17][18][19][20]. The clinical details pertaining to the psychiatric aspects of these additional five cases are outlined in Table 2.…”

Section: Literature Searchmentioning

confidence: 99%

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

Colijn,

Vrijsen,

et al. 2024

Preprint

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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.

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Section: Literature Searchmentioning

confidence: 99%

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

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy

Colijn,

Vrijsen,

et al. 2024

Neurogenetics

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 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

Kufor Rakeb syndrome without gaze palsy and pyramidal signs due to novel ATP13A2 mutations

Cited by 2 publications

References 5 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

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy

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