Volume 15, Issue 8 · IJARST · ISSN 2319-1783 / 2320-1126

Kufor-Rakeb Syndrome: Recognising a Rare Genetic Cause of Early-Onset Parkinsonism

Kufor-Rakeb Syndrome: Recognising a Rare Genetic Cause of Early-Onset Parkinsonism is an open-access, peer-reviewed research paper by Pulendhar Reddy, Shivangi Sinha, Sabavath Arun, Naveen Kulkarni, Rudra Narayan Behera, published in Volume 15, Issue 8 of the International Journal of Advanced Research in Science and Technology (IJARST), a UGC-approved journal (Print ISSN 2319-1783, Online ISSN 2320-1126).

Author

Pulendhar Reddy, Shivangi Sinha, Sabavath Arun, Naveen Kulkarni, Rudra Narayan Behera

Abstract

Background: Kufor–Rakeb syndrome (KRS) is a rare inherited neurodegenerative disorder caused by pathogenic variants in the ATP13A2 gene. It is characterised by juvenile-onset parkinsonism with progressive cognitive, neuropsychiatric, pyramidal, and bulbar manifestations.

Case Presentation: A 22-year-old boy presented with approximately 2.5 years of progressive cognitive and behavioural decline, followed by bulbar dysfunction and motor impairment. Symptoms began at 19.5 years of age with cognitive and behavioural changes; speech impairment and dysphagia developed during the subsequent months, and motor difficulties became prominent approximately one year after symptom onset. Neurological examination demonstrated cognitive impairment, hypomimia, generalised rigidity, dysarthria, brisk lower-limb deep tendon reflexes, and bilateral extensor plantar responses. Routine laboratory investigations and targeted metabolic and disease-specific evaluations were unrevealing. Clinical exome sequencing identified a homozygous pathogenic variant in the ATP13A2 gene, c.2629G>A (p.Gly877Arg), confirming KRS.

Conclusion: KRS should be considered in adolescents with progressive cognitive decline and juvenile-onset parkinsonism, particularly when routine investigations are non-diagnostic. Genetic testing is central to diagnosis and enables genetic counselling and multidisciplinary supportive care.

DOI: https://doi.org/10.62226/ijarst20262780

 

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DOI

10.62226/ijarst20262780

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How do you cite this paper?

Pulendhar Reddy, Shivangi Sinha, Sabavath Arun, Naveen Kulkarni, Rudra Narayan Behera — “Kufor-Rakeb Syndrome: Recognising a Rare Genetic Cause of Early-Onset Parkinsonism.” International Journal of Advanced Research in Science and Technology (IJARST), Volume 15, Issue 8. DOI: 10.62226/ijarst20262780.

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