Category: Parkinsonism (Other)
Objective: Kufor-Rakeb syndrome (KRS) may present with a wide variety of psychiatric symptoms. This case describes the development of parkinsonism after antipsychotic treatment and the diagnostic process in a KRS patient diagnosed late.Kufor-Rakeb syndrome (KRS) may present with a wide variety of psychiatric symptoms. This case describes the development of parkinsonism after antipsychotic treatment and the diagnostic process in a KRS patient diagnosed late.
Background: The treatment of behavioral and psychotic symptoms in KRS is complicated by the risk of exacerbating extrapyramidal symptoms due to psychiatric medications. A 29-year-old female patient presented with gait ataxia, slowness of movement, and speech impairment for the past 5 years. Three months prior, she presented to a psychiatric clinic with depressive and psychotic symptoms. She was given risperidone depot IM every two weeks. After the fourth dose, she developed generalized parkinsonism symptoms and became unable to walk.
Method: The patient was diagnosed with antipsychotic-drug induced parkinsonism. Risperidone treatment was stopped, and dopaminergic therapy was initiated. Following this, parkinsonism symptoms largely improved over 8 weeks. The Patient’s DAT SCAN report showed bilateral dopaminergic loss.
Results: Whole exome sequencing analysis revealed that the index individual was homozygous for the novel (unspecified in the literature, known position, nucleotide change) (ENST00000326735.13) c.289-3C>G variant in the ATP13A2 gene. Biallelic variants (homozygous or compound heterozygous) in this gene are the cause of recessively inherited KRS. The KRS is a rare autosomal recessive form of juvenile-onset atypical Parkinson’s disease (PARK9). Features of KRS include rapidly progressive levodopa (L-dopa)-responsive parkinsonism, dementia, supranuclear upgaze paresis, spasticity, facial finger minimyoclonus, and visual hallucinations.
Conclusion: The range of neuropsychiatric symptoms in KRS includes various combinations of irritability, agitation, aggressive outbursts, ideas of reference, persecutory delusions and multimodal hallucinations. Clinicians should exercise caution in the treatment of psychiatric symptoms in KRS.
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2- Colijn MA, Vrijsen S, Au PYB, Abou El Asrar R, Houdou M, Van den Haute C, Sarna J, Montgomery G, Vangheluwe P. Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy. Neurogenetics. 2024 Oct;25(4):405-415. doi: 10.1007/s10048-024-00767-7. Epub 2024 Jul 18. PMID: 39023817; PMCID: PMC11534834.
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To cite this abstract in AMA style:
MG. Gultekin. Late Diagnosed Kufor Rakeb Syndrome Presenting as Drug Induced Parkinsonism [abstract]. Mov Disord. 2026; 41 (suppl 1). https://www.mdsabstracts.org/abstract/late-diagnosed-kufor-rakeb-syndrome-presenting-as-drug-induced-parkinsonism/. Accessed October 1, 2026.« Back to 2026 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/late-diagnosed-kufor-rakeb-syndrome-presenting-as-drug-induced-parkinsonism/