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- Title
A rare genetically proven case of young onset Parkinson's Disease -- VPS19C mutation.
- Authors
Reddy, A. Soumya; Raju, G. Butchi; Gopi, S.; Kumar, Sateesh; Kumari, U. Aruna
- Abstract
Objective: To evaluate a 24-year-old patient presenting with young-onset parkinsonism with cognitive decline. Materials and Methods: A 24-year-old female presented with insidious onset stiffness, decreased utility, and rest tremors of right upper limb of 1 year duration. She had difficulty in carrying out activities of daily living due to decreased dexterity of right limb. History of slowness of activities was noted, as she used to take more amount of time to walk/eat along with having a history of micrographia. Her mother gave a history of decreased performance at work, slowness of thought process, and increased forgetfulness. There was no history of psychiatric disturbances/chorea/dystonia/jaundice/diurnal variations/drug or toxin exposure/ataxia/self-mutilation/ cognitive decline/family history. Examination revealed masklike facies, decreased blink rate, positive tests of bradykinesia, cogwheel rigidity in right upper limb, and rigidity of right lower limb. Mini Mental State Evaluation (MMSE) was 24; detailed cognitive examination revealed executive dysfunction, impaired working, and episodic memory. Examination of power, reflexes, and sensory and cerebellar system was normal. Tests for autonomic dysfunction were normal. Results: Routine blood work did not reveal any abnormality. Magnetic resonance imaging (MRI) brain was normal. No Kayser Fleischer ring (KF) ring was seen. Serum cooper and ceruloplasmin were normal. No acanthocytes were found on peripheral smear. In view of inconclusive workup, a clinical exome sequencing for juvenile Parkinson's Disease (PD) panel was sent, which revealed a heterozygous mutation for VPS13C, that is, Parkinson disease-23 (PD-23). Conclusion: Early-onset PD-23 (OMIM#616840) is caused by homozygous or compound heterozygous mutations in the VPS13C gene. This disorder is primarily characterized by young onset parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become disabled within a few decades.
- Subjects
PARKINSON'S disease &; genetics; EPISODIC memory; SELF-mutilation
- Publication
Annals of Movement Disorders, 2022, Vol 5, pS26
- ISSN
2590-3446
- Publication type
Abstract