MOLECULAR INSIGHTS AND GENETIC IMPLICATIONS IN PARKINSONISM-DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS COMPLEX: A CASE REPORT
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Keywords
Parkinsonism, Dementia, Amyotrophic Lateral Sclerosis, Neurodegenerative Disease
Abstract
Introduction: The parkinsonism-dementia-amyotrophic lateral sclerosis complex was first described in the islands of Guam, with its peak incidence in the 1950s. Due to its rarity, we present a clinical case to shed light on this association. The objective is to describe the nosological and pathogenetic implications of this neurodegenerative disease, particularly in populations where this association is unexpected.
Clinical Case: We report a case of Pakistani origin with systemic symptoms evolving over 5 years, followed by cognitive alterations. Subsequently, the patient developed gait disturbances and motor symptoms suggestive of parkinsonism with atypical features and signs of motor neuron disease. Extension studies confirmed the involvement of both upper and lower motor neurons, with a mutation observed in the POLG gene associated with mitochondrial depletion syndrome.
Conclusion: Despite being a known association, diagnosis of this entity remains challenging clinically. Molecular mechanisms have not been fully elucidated; common genes associated with parkinsonism and amyotrophic lateral sclerosis have been ruled out, with attempts to localize the locus yielding inconclusive results. Unfortunately, the prognosis remains fatal, and there are currently no disease-modifying treatments available.
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Dr. Rehana Masood
Assistant professor, Department of Biochemistry, Shaheed Benazir Bhutto Women University, Peshawar Pakistan, Sina Labs and Diagnostic Centre, Hayatabad, Peshawar Pakistan
Rabi Taj
Department of Zoology, Shaheed Benazir Bhutto Women University, Charsadda Road, Peshawar, Pakistan
Tanzeela Noreen Alvi
Research Associate, School of Biological Sciences, University of the Punjab, Pakistan
Dr. Sadia Javeed
Women Medical Officer Social Security Hospital (PESSI: Punjab Employees Social Security Institution) Sahiwal, Pakistan
Likowsky Desir
MPH, MSc, Department of Surgery, Wyckoff Heights Medical Center, United States
Maher Ali Rusho
Department of Lockheed Martin Engineering Management, University of Colorado, Boulder, Boulder, CO 80309, USA
Tariq Rafique
Assistant Professor Dadabhoy Institute of Higher Education, Karachi, Pakistan
Zohaib Tariq
MS Scholar, Department of Pyhisics, University of Lahore, Sargodha Campus, Sargodha, Pakistan